Entity Details

Primary name GEPH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NQX3
EntryNameGEPH_HUMAN
FullNameGephyrin
TaxID9606
Evidenceevidence at protein level
Length736
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesGPHN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0007529 establishment of synaptic specificity at neuromuscular junction
GO:0008940 nitrate reductase activity
GO:0010038 response to metal ion
GO:0014069 postsynaptic density
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex
GO:0030425 dendrite
GO:0032324 molybdopterin cofactor biosynthetic process
GO:0042802 identical protein binding
GO:0043546 molybdopterin cofactor binding
GO:0045211 postsynaptic membrane
GO:0046872 metal ion binding
GO:0061598 molybdopterin adenylyltransferase activity
GO:0061599 molybdopterin molybdotransferase activity
GO:0072579 glycine receptor clustering
GO:0097060 synaptic membrane
GO:0097112 gamma-aminobutyric acid receptor clustering
GO:0098970 postsynaptic neurotransmitter receptor diffusion trapping
GO:0099144 anchored component of synaptic membrane
GO:0099572 postsynaptic specialization
GO:0099634 postsynaptic specialization membrane

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001453 MoaB/Mog domainDomainDomain
IPR005110 MoeA, N-terminal and linker domainDomainDomain
IPR005111 MoeA, C-terminal, domain IVDomainDomain
IPR008284 Molybdenum cofactor biosynthesis, conserved siteSiteConserved site
IPR036135 MoeA, N-terminal and linker domain superfamilyFamilyHomologous superfamily
IPR036425 MoaB/Mog-like domain superfamilyFamilyHomologous superfamily
IPR036688 MoeA, C-terminal, domain IV superfamilyFamilyHomologous superfamily
IPR038987 Molybdopterin biosynthesis protein MoeA-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
615501 OMIMMolybdenum cofactor deficiency, complementation group C (MOCODC)A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01942 Formic acidDrugbanksmall molecule
DB03366 ImidazoleDrugbanksmall molecule
DB03766 Propanoic acidDrugbanksmall molecule