COL9A1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enriched (prostate)
GTEx:Tissue enhanced (prostate)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (prostate)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (prostate)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

1297

UniProt

P20849 (UniProt - Evidence at protein level)

neXtProt

NX_P20849

Antibodypedia

COL9A1 antibodies


PROTEIN BROWSER

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ENST00000320755
 
ENST00000357250
 
ENST00000370496
 
 
 
 


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)

COL9A1-001 ENSP00000349790
ENST00000357250
P20849
Show all »
Show » Show » 921 91.9 Yes 0
COL9A1-002 ENSP00000315252
ENST00000320755
P20849
Show all »
Show » Show » 678 64.4 Yes 0
COL9A1-004 ENSP00000359527
ENST00000370496
P20849
Show all »
Show » Show » 328 35.5 Yes 0