EF-CAB4A is a 399 amino acid protein belonging to the EFCAB4 family. Containing two EF-hand domains, EF-CAB4A may be involved in store-operated Ca2+ entry (SOCE). EF-CAB4A exists as three alternatively spliced isoforms, and is encoded by a gene mapping to human chromosome 11p15.5. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.
Function:
Plays a role in store-operated Ca(2+) entry (SOCE).
Similarity:
Belongs to the EFCAB4 family.
Contains 2 EF-hand domains.
SWISS:
Q8N4Y2
Gene ID:
283229
Database links:
Entrez Gene: 283229 Human
Entrez Gene: 213573 Mouse
Entrez Gene: 309112 Rat
Omim: 614177 Human
SwissProt: Q8N4Y2 Human
SwissProt: Q80ZJ8 Mouse
SwissProt: B0BNK9 Rat
Unigene: 660936 Human
Unigene: 386851 Mouse
Unigene: 13220 Rat
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