Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder α1-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The FLJ44817 gene product has been provisionally designated FLJ44817 pending further characterization.
Function:
Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.
Subunit:
Interacts with MPDZ and PTPN13.
Subcellular Location:
Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2.
Tissue Specificity:
Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.
Similarity:
Contains 2 PH domains.
SWISS:
A6NEE1
Gene ID:
400224
Database links:
Entrez Gene: 400224 Human
Entrez Gene: 217682 Mouse
Entrez Gene: 500685 Rat
SwissProt: A6NEE1 Human
SwissProt: B2RPU2 Mouse
SwissProt: B1WBU8 Rat
Unigene: 509796 Human
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