The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
Function:
Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1.
Subcellular Location:
Endomembrane system. Cell junction > synapse > synaptosome. Cell projection > lamellipodium.
Tissue Specificity:
Isoform 2 is ubiquitous in adult and fetal tissues with high expression in skeletal muscle, heart, spleen, ovary, testis and all fetal tissues tested and low expression in thymus, blood, lung, liver and pancreas. Isoform 1 is expressed almost exclusively in the brain, in all brain regions. Not expressed in the spinal cord.
Similarity:
Contains 1 C2 domain.
Contains 1 DH (DBL-homology) domain.
Contains 2 EF-hand domains.
Contains 2 EH domains.
Contains 1 PH domain.
Contains 5 SH3 domains.
SWISS:
Q15811
Gene ID:
602442
Database links:
Entrez Gene: 6453 Human
Entrez Gene: 16443 Mouse
Entrez Gene: 29491 Rat
Omim: 602442 Human
SwissProt: Q15811 Human
SwissProt: Q9Z0R4 Mouse
SwissProt: Q9WVE9 Rat
Unigene: 160324 Human
Unigene: 40546 Mouse
Unigene: 48657 Rat
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