COL27A1

This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

Description

Collagen type XXVII alpha 1 chain

Tissue specificity

Tissue enhanced (cervix)

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

9 (114155537 - 114312511)

Ensembl ID

ENSG00000196739  (ver. 103.38)

Orthologs

Mouse Col27a1: ENSMUSG00000045672

UniProt

Q8IZC6

neXtProt

NX_Q8IZC6

Human splice variants
Mouse splice variants

Protein structure