This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a SLCterminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the SLCterminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
Function:
Plays a role in membrane reorganization in response to nucleotide hydrolysis. Binds to liposomes and deforms them into tubules. Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for normal fusion of myoblasts to skeletal muscle myotubes. Binds ATP; does not bind GTP.
Subcellular Location:
Cell membrane. Endosome membrane. Colocalizes with GLUT4 in intracellular tubulovesicular structures that are associated with cortical F-actin.
Tissue Specificity:
Highly expressed in heart and moderately expressed in placenta, lung, and skeletal muscle.
Similarity:
Contains 1 EF-hand domain.
Contains 1 EH domain.
SWISS:
Q9NZN4
Gene ID:
30846
Database links:
Entrez Gene: 30846 Human
Entrez Gene: 538348 Cow
Entrez Gene: 259300 Mouse
Entrez Gene: 361512 Rat
Omim: 605890 Human
SwissProt: Q9NZN4 Human
SwissProt: Q8SH64 Mouse
SwissProt: Q4V8H8 Rat
Unigene: 631554 Human
Unigene: 138215 Mouse
Unigene: 438817 Mouse
Unigene: 16016 Rat
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