COL10A1

GENE INFORMATION

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Gene name

COL10A1

Synonyms

Description

Collagen, type X, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

q22.1

Chromosome location (bp)

116118923 - 116158747

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000123500 (version 78.38)

Entrez gene

1300

UniProt

Q03692 (UniProt - Evidence at protein level)

neXtProt

NX_Q03692

Antibodypedia

COL10A1 antibodies
 

PROTEIN VIEW

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COL10A1-001
 
COL10A1-002
 
COL10A1-003
 
COL10A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL10A1-001 ENSP00000327368
ENST00000327673
Q03692
Show all »
Show » Show » 680 66.2 Yes 0
COL10A1-002 ENSP00000392712
ENST00000418500
Q5QPC8
Show all »
Show » 51 5.9 Yes 0
COL10A1-003 ENSP00000411285
ENST00000452729
Q5QPC7
Show all »
Show » 216 21 Yes 0
COL10A1-201 ENSP00000243222
ENST00000243222
Q03692
Show all »
Show » Show » 680 66.2 Yes 0