Entity Details

Primary name CHIN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP15882
EntryNameCHIN_HUMAN
FullNameN-chimaerin
TaxID9606
Evidenceevidence at protein level
Length459
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesCHN1

GO terms

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GOName
GO:0005096 GTPase activator activity
GO:0005829 cytosol
GO:0008045 motor neuron axon guidance
GO:0035556 intracellular signal transduction
GO:0043087 regulation of GTPase activity
GO:0046872 metal ion binding
GO:0046875 ephrin receptor binding
GO:0048013 ephrin receptor signaling pathway
GO:0050770 regulation of axonogenesis
GO:0051056 regulation of small GTPase mediated signal transduction

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000198 Rho GTPase-activating protein domainDomainDomain
IPR000980 SH2 domainDomainDomain
IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domainDomainDomain
IPR008936 Rho GTPase activation proteinFamilyHomologous superfamily
IPR017356 ChimaerinFamilyFamily
IPR020454 Diacylglycerol/phorbol-ester bindingDomainDomain
IPR035840 Chimaerin, SH2 domainDomainDomain
IPR036860 SH2 domain superfamilyFamilyHomologous superfamily
IPR037860 Chimaerin, RhoGAP domainDomainDomain

Diseases

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Disease IDSourceNameDescription
604356 OMIMDuane retraction syndrome 2 (DURS2)A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. The disease is caused by variants affecting the gene represented in this entry.