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MGP003912

UniProt Annotations

Entry Information
Gene NameRac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Protein EntryARHG6_HUMAN
UniProt IDQ15052
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15052-1; Sequence=Displayed; Name=2; IsoId=Q15052-2; Sequence=VSP_015782;
DiseaseMental retardation, X-linked 46 (MRX46) [MIM:300436]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionActs as a RAC1 guanine nucleotide exchange factor (GEF).
InteractionP41227:NAA10; NbExp=3; IntAct=EBI-1642523, EBI-747693; Q13177:PAK2; NbExp=2; IntAct=EBI-1642523, EBI-1045887; O60880:SH2D1A; NbExp=2; IntAct=EBI-1642523, EBI-6983382;
Sequence CautionSequence=BAA02796.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityContains 1 CH (calponin-homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00044}.
SimilarityContains 1 DH (DBL-homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00062}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
Subcellular LocationCell projection, lamellipodium {ECO:0000250}.
SubunitInteracts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1 (By similarity). Interacts with PARVB. Interacts with BIN2. Identified in a complex with BIN2 and GIT2. {ECO:0000250, ECO:0000269|PubMed:15005707, ECO:0000269|PubMed:23285027}.
Tissue SpecificityUbiquitous.
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