Cell atlas - COL9A1 - The Human Protein Atlas

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COL9A1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Group enriched (AF22, NTERA-2)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (AF22, NTERA-2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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] Show all	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

contact@proteinatlas.org

The Project

The Human Protein Atlas

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