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Dehydrodolichyl diphosphate synthase complex subunit NUS1

Summary

UniProt ID: Q96E22
Gene Symbol: NUS1 C6orf68 NGBR
Gene ID: 116150
Organism: Homo sapiens (human)

External Links

GlyGen: Q96E22
PubChem: Q96E22
The Human Metabolome Database: HMDBP09222
Re-Glyco: Q96E22

Annotation

Keyword: 3D-structure Angiogenesis Congenital disorder of glycosylation Developmental protein Differentiation Disease variant Endoplasmic reticulum Glycoprotein Intellectual disability Lipid metabolism Magnesium Metal-binding Proteomics identification Receptor Reference proteome Transferase Transmembrane helix

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	Reference
angiogenesis
dolichyl diphosphate biosynthetic process	IDA	PMID PMID
cell differentiation
regulation of intracellular cholesterol transport	IGI	PMID
regulation of intracellular cholesterol transport	IEA	GO_REF

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway [inference]

vascular endothelial growth factor signaling pathway

metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process [inference]

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process [inference]

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

primary metabolic process [inference]

lipid metabolic process [inference]

phospholipid metabolic process [inference]

phospholipid biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

cellular developmental process [inference]

cell differentiation

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

angiogenesis

cellular developmental process [inference]

cell differentiation

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of transport [inference]

regulation of lipid transport [inference]

regulation of sterol transport [inference]

regulation of cholesterol transport [inference]

regulation of intracellular cholesterol transport

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of intracellular lipid transport [inference]

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of lipid localization [inference]

regulation of lipid transport [inference]

regulation of sterol transport [inference]

regulation of cholesterol transport [inference]

regulation of intracellular cholesterol transport

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of intracellular lipid transport [inference]

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of locomotion [inference]

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of cell motility [inference]

regulation of cell migration [inference]

regulation of endothelial cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of blood vessel endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of cell migration involved in sprouting angiogenesis [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of biological process [inference]

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway [inference]

vascular endothelial growth factor signaling pathway

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

regulation of epithelial cell proliferation [inference]

regulation of endothelial cell proliferation [inference]

positive regulation of endothelial cell proliferation [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation [inference]

positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

regulation of intracellular lipid transport [inference]

regulation of intracellular sterol transport [inference]

regulation of intracellular cholesterol transport

regulation of cell motility [inference]

regulation of cell migration [inference]

regulation of endothelial cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of blood vessel endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

regulation of cell migration involved in sprouting angiogenesis [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of endothelial cell migration [inference]

positive regulation of blood vessel endothelial cell migration [inference]

positive regulation of cell migration involved in sprouting angiogenesis

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

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GO Term	Evidence Code	Reference
endoplasmic reticulum membrane	EXP	PMID
endoplasmic reticulum membrane	NAS	PMID
endoplasmic reticulum membrane	TAS	Reactome Reactome
endoplasmic reticulum membrane	IDA	PMID
endoplasmic reticulum membrane	IBA	GO_REF

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex [inference]

transferase complex [inference]

polyprenyl diphosphate synthase complex [inference]

dehydrodolichyl diphosphate synthase complex

cellular anatomical structure [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying **all 4** entries
GO Term	Evidence Code	Reference
ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	EXP	PMID PMID
ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IDA	PMID
ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IEA	GO_REF GO_REF
metal ion binding

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring alkyl or aryl (other than methyl) groups [inference]

prenyltransferase activity [inference]

prenyl diphosphate synthase activity [inference]

ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity

binding [inference]

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPPAVGRNRRHHRHPRGGSCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASLVVWCMAVGISYISVYDHQGIFKRNNSRLMDEILKQQQELLGLDCSKYSPEFANSNDKDDQVLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLLSSNGCPDPDLVLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALRQYAACEQRLGK

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 2** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
144	N-linked (GlcNAc...) asparagine	21572394		UniProt GlyGen
271	N-linked (GlcNAc...) asparagine	21572394		UniProt GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
Defective DHDDS causes RP59	Homo sapiens
Synthesis of dolichyl-phosphate	Homo sapiens

Disease

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080553	congenital disorder of glycosylation Iaa	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55	Alliance of Genome Resources