MCTP1 is a 999 amino acid multi-pass membrane protein that belongs to the MCTP family. Existing as five alternatively spliced isoforms, MCTP1 binds calcium via its C2 domains in the absence of phospholipids. The gene encoding MCTP1 maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Function:
MCTP1 binds calcium via the C2 domains in the absence of phospholipids. There are 5 named isoforms.
Subcellular Location:
Membrane; Multi-pass membrane protein.
SWISS:
Q6DN14
Gene ID:
79772
Database links:
Entrez Gene: 79772 Human
Entrez Gene: 78771 Mouse
Entrez Gene: 309928 Rat
SwissProt: Q6DN14 Human
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