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COL9A1

GENERAL INFORMATION

Gene name

 COL9A1

Gene description

 Collagen, type IX, alpha 1

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Group enriched (AF22, NTERA-2)
HPA (normal tissue):Tissue enriched (prostate)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 COL9A1

Synonyms

Description

 Collagen, type IX, alpha 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 q13

Chromosome location (bp)

 70215061 - 70303083

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000112280 (version 83.38)

Entrez gene

 1297

UniProt

 P20849 (UniProt - Evidence at protein level)

neXtProt

 NX_P20849

Antibodypedia

 COL9A1 antibodies

PROTEIN BROWSER
COL9A1-001
COL9A1-002
COL9A1-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL9A1-001
ENSP00000349790
ENST00000357250
P20849 [Direct mapping]
Collagen alpha-1(IX) chain
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001894 [tissue homeostasis]
GO:0002062 [chondrocyte differentiation]
GO:0003417 [growth plate cartilage development]
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005594 [collagen type IX trimer]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007411 [axon guidance]
GO:0009887 [organ morphogenesis]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0046872 [metal ion binding]
GO:0051216 [cartilage development]
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 921 aa
91.9 kDa 		Yes 0
COL9A1-002
ENSP00000315252
ENST00000320755
P20849 [Direct mapping]
Collagen alpha-1(IX) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005594 [collagen type IX trimer]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007411 [axon guidance]
GO:0009887 [organ morphogenesis]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0046872 [metal ion binding]
Show all
 678 aa
64.4 kDa 		Yes 0
COL9A1-004
ENSP00000359527
ENST00000370496
P20849 [Direct mapping]
Collagen alpha-1(IX) chain
Show all
   MEMSAT3 predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005594 [collagen type IX trimer]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007411 [axon guidance]
GO:0009887 [organ morphogenesis]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030574 [collagen catabolic process]
GO:0046872 [metal ion binding]
Show all
 328 aa
35.5 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.