KAZALD1

This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Description

Kazal type serine peptidase inhibitor domain 1

Tissue specificity

Tissue enhanced (lymphoid tissue)

Predicted location

Secreted to extracellular matrix

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

10 (101061989 - 101068131)

Ensembl ID

ENSG00000107821  (ver. 103.38)

Orthologs

Mouse Kazald1: ENSMUSG00000025213

UniProt

Q96I82

neXtProt

NX_Q96I82

Human splice variants
Mouse splice variants

Protein structure