COL27A1

GENE INFORMATION

? »

Gene name

COL27A1 (HGNC Symbol)

Synonyms

FLJ11895, KIAA1870, MGC11337

Description

Collagen, type XXVII, alpha 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

9

Cytoband

q32

Chromosome location (bp)

114155560 - 114312511

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196739 (version 78.38)

Entrez gene

85301

UniProt

Q8IZC6 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8IZC6

Antibodypedia

COL27A1 antibodies
 

PROTEIN VIEW

? »
 
 
 
COL27A1-001
 
COL27A1-004
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL27A1-001 ENSP00000348385
ENST00000356083
Q8IZC6
Show all »
Show » Show » 1860 186.9 Yes 0
COL27A1-004 ENSP00000391328
ENST00000451716
Q5T1U7
Show all »
Show » 714 73.6 No 0