This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Function:
Thought to regulate cation conductance. May regulate ACCN1 and ACCN3 gating.
Subunit:
Homooligomer containing between 9 and 12 monomers. Interacts with ASIC1, ASIC2 and ASIC3. Interacts with LANCL1.
Subcellular Location:
Cell membrane. Cell membrane. Melanosome. Exposed on the cytoplasmic surface of the membrane. Associated with lipid rafts. Concentrates preferentially in plasma membrane protrusions and in a juxta-nuclear region which may represent Golgi-derived vesicles. Colocalizes with actin. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue Specificity:
Widely expressed.
Similarity:
Belongs to the band 7/mec-2 family.
SWISS:
P27105
Gene ID:
2040
Database links:
Entrez Gene: 2040 Human
Entrez Gene: 13830 Mouse
Entrez Gene: 296655 Rat
Omim: 133090 Human
SwissProt: P27105 Human
SwissProt: P54116 Mouse
Unigene: 253903 Human
Unigene: 295284 Mouse
Unigene: 229238 Rat
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