Entity Details

Primary name GRAP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13588
EntryNameGRAP_HUMAN
FullNameGRB2-related adapter protein
TaxID9606
Evidenceevidence at protein level
Length217
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesGRAP

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0007265 Ras protein signal transduction
GO:0007267 cell-cell signaling
GO:0007605 sensory perception of sound
GO:0016020 membrane
GO:0098793 presynapse

Subcellular Location

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Subcellular Location
Cell junction
Membrane

Domains

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DomainNameCategoryType
IPR000980 SH2 domainDomainDomain
IPR001452 SH3 domainDomainDomain
IPR035645 GRAP, N-terminal SH3 domainDomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily
IPR036860 SH2 domain superfamilyFamilyHomologous superfamily
IPR043539 Grb2-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
618456 OMIMDeafness, autosomal recessive, 114 (DFNB114)A form of non-syndromic deafness characterized by congenital profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.