The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
Function:
Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis.
Subcellular Location:
Cytoplasm > cytoskeleton.
Tissue Specificity:
Expressed in a variety of human tissues including kidney, skeletal muscle, lung and placenta.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in PTPN14 are a cause of choanal atresia and lymphedema (CHATLY) [MIM:613611]. A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. Note=A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.
Similarity:
Belongs to the protein-tyrosine phosphatase family.
Non-receptor class subfamily.
Contains 1 FERM domain.
Contains 1 tyrosine-protein phosphatase domain.
SWISS:
Q15678
Gene ID:
5784
Database links:
Entrez Gene: 5784 Human
Omim: 603155 Human
SwissProt: Q15678 Human
Unigene: 193557 Human
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