SPINK9 is an 86 amino acid secreted protein that contains one kazal-like domain and is thought to function as a serine protease inhibitor, possibly playing a role in proteolytic cascades. The gene encoding SPINK9 maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. 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:
Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5.
Subunit:
Dimer. Interacts with KLK5 and KLK8.
Subcellular Location:
Secreted.
Tissue Specificity:
Skin. Highly expressed at sites of hyperkeratosis. Also detected in thymus, tonsils, testis, pancreas, liver, placenta and brain. Expressed at stratum granulosum and stratum corneum at palmar and plantar sites (at protein level).
Similarity:
Contains 1 Kazal-like domain.
SWISS:
Q5DT21
Gene ID:
643394
Database links:
Entrez Gene: 643394 Human
SwissProt: Q5DT21 Human
Unigene: 631798 Human
|
|
