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SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Summary

Gene Symbol

SAMHD1

Aliases

AGS5
Aicardi-Goutieres syndrome 5
HD domain containing 1
HDDC1
MOP-5
Mg11
SBBI88
monocyte protein 5

Organism

Homo sapiens (human)

External Links

NCBI Gene

25939

HGNC

15925

PubChem

25939

Alliance of Genome Resources

HGNC:15925

JoGo

SAMHD1

TogoVar

SAMHD1

Annotation

Keyword

3D-structure
Acetylation
Aicardi-Goutieres syndrome
Allosteric enzyme
Alternative splicing
Antiviral defense
Chromosome
DNA repair
DNA replication
Direct protein sequencing
Disease variant
GTP-binding
Host-virus interaction
Hydrolase
Innate immunity
Isopeptide bond
Metal-binding
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Ubl conjugation
Zinc

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A2R8YCS7	SAM domain and HD domain-containing protein 1
Q59H15
Q9Y3Z3	Dendritic cell-derived IFNG-induced protein Monocyte protein 5 SAM domain and HD domain-containing protein 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 26 in total

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GO Term	Evidence Code	PMID
double-strand break repair via homologous recombination	IDA
dGTP catabolic process	IDA
dGTP catabolic process	IBA
DNA replication
DNA repair

GO Hierarchy

biological process

immune system process [inference]

somatic diversification of immune receptors [inference]

somatic diversification of immune receptors via somatic mutation [inference]

somatic hypermutation of immunoglobulin genes

somatic diversification of immunoglobulins [inference]

somatic hypermutation of immunoglobulin genes

immune response

innate immune response

cellular process [inference]

metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

2'-deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside triphosphate metabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

deoxyribonucleoside triphosphate metabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

deoxyribose phosphate catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

2'-deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside triphosphate metabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

deoxyribonucleoside triphosphate metabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

organophosphate catabolic process [inference]

deoxyribose phosphate catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

catabolic process [inference]

deoxyribonucleotide catabolic process

nucleobase-containing compound catabolic process [inference]

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

organophosphate catabolic process [inference]

deoxyribose phosphate catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine-containing compound catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

carbohydrate derivative catabolic process [inference]

deoxyribose phosphate catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

deoxyribonucleotide metabolic process [inference]

deoxyribonucleotide catabolic process

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

DNA strand resection involved in replication fork processing

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound catabolic process [inference]

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

2'-deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside triphosphate metabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

deoxyribonucleoside triphosphate metabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA replication

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination

DNA strand resection involved in replication fork processing

small molecule metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

2'-deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside triphosphate metabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

deoxyribonucleoside triphosphate metabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate metabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

nucleoside phosphate catabolic process [inference]

nucleoside triphosphate catabolic process [inference]

purine nucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

deoxyribonucleoside triphosphate catabolic process [inference]

purine deoxyribonucleoside triphosphate catabolic process [inference]

nucleotide catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

purine-containing compound catabolic process [inference]

purine nucleotide catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

carbohydrate derivative metabolic process [inference]

2'-deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide metabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

dATP metabolic process [inference]

dATP catabolic process

dGTP metabolic process [inference]

dGTP catabolic process

carbohydrate derivative catabolic process [inference]

deoxyribose phosphate catabolic process [inference]

purine deoxyribonucleotide catabolic process [inference]

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization [inference]

protein homotetramerization

protein tetramerization [inference]

protein homotetramerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization [inference]

protein homotetramerization

protein tetramerization [inference]

protein homotetramerization

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

immune response

innate immune response

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

defense response to virus

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair

recombinational repair [inference]

double-strand break repair via homologous recombination

double-strand break repair [inference]

double-strand break repair via homologous recombination

biological regulation [inference]

regulation of biological process [inference]

regulation of immune system process [inference]

negative regulation of immune system process [inference]

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of immune response [inference]

regulation of innate immune response

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of biological process [inference]

negative regulation of immune system process [inference]

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of response to biotic stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of defense response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to external stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to cytokine stimulus [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of response to stimulus [inference]

regulation of response to biotic stimulus [inference]

negative regulation of response to biotic stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of innate immune response

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of response to external stimulus [inference]

negative regulation of response to external stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of innate immune response

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of response to biotic stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of defense response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to external stimulus [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to cytokine stimulus [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of immune response [inference]

regulation of innate immune response

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of immune response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of response to cytokine stimulus [inference]

regulation of cytokine-mediated signaling pathway [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of response to cytokine stimulus [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of response to stress [inference]

regulation of defense response [inference]

negative regulation of defense response [inference]

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of innate immune response

negative regulation of innate immune response [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

regulation of type I interferon-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of cytokine-mediated signaling pathway [inference]

negative regulation of type I interferon-mediated signaling pathway

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
nucleus	EXP
nucleus	IDA
nucleus	IBA
nucleus	IEA
nucleoplasm	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

nucleoplasm

membrane [inference]

plasma membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

membraneless organelle [inference]

intracellular membraneless organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular membraneless organelle [inference]

chromosome

site of DNA damage [inference]

site of double-strand break

tetraspanin-enriched microdomain

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
nucleic acid binding	IDA
single-stranded DNA binding	IDA
RNA binding	IDA
catalytic activity
RNA nuclease activity	IDA

GO Hierarchy

molecular function

catalytic activity

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

triphosphoric monoester hydrolase activity

catalytic activity, acting on a nucleic acid [inference]

nuclease activity [inference]

RNA nuclease activity

catalytic activity, acting on RNA [inference]

RNA nuclease activity

binding [inference]

nucleic acid binding

DNA binding [inference]

single-stranded DNA binding

RNA binding

protein binding

identical protein binding

small molecule binding [inference]

ion binding [inference]

anion binding [inference]

dGTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

cation binding [inference]

metal ion binding

transition metal ion binding [inference]

zinc ion binding

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl deoxyribonucleotide binding [inference]

dGTP binding

guanyl ribonucleotide binding [inference]

GTP binding

purine deoxyribonucleotide binding [inference]

guanyl deoxyribonucleotide binding [inference]

dGTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine deoxyribonucleotide binding [inference]

guanyl deoxyribonucleotide binding [inference]

dGTP binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl deoxyribonucleotide binding [inference]

dGTP binding

guanyl ribonucleotide binding [inference]

GTP binding

purine deoxyribonucleotide binding [inference]

guanyl deoxyribonucleotide binding [inference]

dGTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

phosphoribosylaminoimidazole-succinocarboxamide synthase

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
'de novo' IMP biosynthetic process
nucleotide binding
phosphoribosylaminoimidazolesuccinocarboxamide synthase activity
purine nucleotide biosynthetic process

Human Protein Atlas

ENSG00000101347

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0050629	Aicardi-Goutieres syndrome	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	Alliance of Genome Resources
DOID:1883	hepatitis C	Alliance of Genome Resources
DOID:2043	hepatitis B	Alliance of Genome Resources
DOID:9119	acute myeloid leukemia	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 84 in total

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5

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000252	Microcephaly
HP:0000369	Low-set ears
HP:0000444	Convex nasal ridge
HP:0000496	Abnormality of eye movement
HP:0000501	Glaucoma
HP:0000508	Ptosis
HP:0000625	Eyelid coloboma

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:614415	chilblain lupus 2
ORPHA:51	Aicardi-Goutieres syndrome
OMIM:612952	Aicardi-Goutieres syndrome 5

PubChem Disease

GHR Health Conditions

Aicardi-Goutières syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements