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MGP000546

UniProt Annotations

Entry Information
Gene Namechimerin 1
Protein EntryCHIN_HUMAN
UniProt IDP15882
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=Alpha-2; IsoId=P15882-1; Sequence=Displayed; Name=Alpha-1; IsoId=P15882-2; Sequence=VSP_001636; Name=3; IsoId=P15882-3; Sequence=VSP_043297; Note=No experimental confirmation available.;
Developmental StageIncreases in amount during brain development coincident with synaptogenesis.
DiseaseDuane retraction syndrome 2 (DURS2) [MIM:604356]: Duane retraction syndrome is 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, and 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. {ECO:0000269|PubMed:18653847}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionGTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
PtmPhosphorylated. Phosphorylation is EPHA4 kinase activity- dependent (By similarity). {ECO:0000250}.
Sequence CautionSequence=CAA35769.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityContains 1 phorbol-ester/DAG-type zinc finger. {ECO:0000255|PROSITE-ProRule:PRU00226}.
SimilarityContains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}.
SimilarityContains 1 SH2 domain. {ECO:0000255|PROSITE- ProRule:PRU00191}.
SubunitInteracts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation. {ECO:0000250}.
Tissue SpecificityIn neurons in brain regions that are involved in learning and memory processes.
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