adenosine deaminase

Summary
Gene Symbol
  • ADA
Aliases
  • ADA1
Organism
Homo sapiens (human)
NCBI Gene
100
HGNC
186
KEGG Gene ID
PubChem
100
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cell adhesion
  • Cell junction
  • Cell membrane
  • Cytoplasm
  • Cytoplasmic vesicle
  • Direct protein sequencing
  • Disease variant
  • Hereditary hemolytic anemia
  • Hydrolase
  • Lysosome
  • Metal-binding
  • Nucleotide metabolism
  • Proteomics identification
  • Reference proteome
  • SCID
  • Zinc
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A0S2Z381
  • Adenosine aminohydrolase
F5GWI4
P00813
  • Adenosine aminohydrolase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
adenosine deaminase
Functional Category
  • E: Amino acid transport and metabolism
  • F: Nucleotide transport and metabolism
  • T: Signal transduction mechanisms
Disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000100 Nephrotic syndrome
HP:0000246 Sinusitis
HP:0000403 Recurrent otitis media
HP:0000821 Hypothyroidism
HP:0000907 Anterior rib cupping
HP:0000926 Platyspondyly
HP:0000944 Abnormal metaphysis morphology
HP:0000958 Dry skin
HP:0000969 Edema
Displaying all 3 entries
Disease ID Disease Name
ORPHA:277
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM:102700
  • severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ORPHA:39041
  • Omenn syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026