ELMOD1 is a 334 amino acid protein that contains one ELMO domain and is encoded by a gene that maps to human chromosome 11. With approximately 135 million base pairs and 1,400 genes, chromosome 11 comprises approximately 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while 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:
Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.
Similarity:
Contains 1 ELMO domain.
SWISS:
Q8N336
Gene ID:
55531
Database links:
Entrez Gene: 55531 Human
Entrez Gene: 768233 Cow
Entrez Gene: 270162 Mouse
Entrez Gene: 315670 Rat
SwissProt: Q0IIE6 Cow
SwissProt: Q8N336 Human
SwissProt: Q3V1U8 Mouse
Unigene: 495779 Human
Unigene: 259791 Mouse
Unigene: 13823 Rat
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