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Q14050

- CO9A3_HUMAN

UniProt

Q14050 - CO9A3_HUMAN

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Protein
Collagen alpha-3(IX) chain
Gene
COL9A3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Structural component of hyaline cartilage and vitreous of the eye.

GO - Molecular functioni

  1. extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL

GO - Biological processi

  1. axon guidance Source: Reactome
  2. collagen catabolic process Source: Reactome
  3. extracellular matrix disassembly Source: Reactome
  4. extracellular matrix organization Source: Reactome
  5. female gonad development Source: Ensembl
  6. male gonad development Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150401. Collagen degradation.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_18312. NCAM1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-3(IX) chain
Gene namesi
Name:COL9A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:2219. COL9A3.

Subcellular locationi

GO - Cellular componenti

  1. collagen type IX trimer Source: BHF-UCL
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular region Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (1 Publication).1 Publication

Keywords - Diseasei

Dwarfism

Organism-specific databases

MIMi600969. phenotype.
603932. phenotype.
Orphaneti250984. Autosomal recessive Stickler syndrome.
166002. Multiple epiphyseal dysplasia due to collagen 9 anomaly.
PharmGKBiPA26735.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525 Reviewed prediction
Add
BLAST
Chaini26 – 684659Collagen alpha-3(IX) chain
PRO_0000005848Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi483 – 4831N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Keywords - PTMi

Glycoprotein, Hydroxylation

Proteomic databases

MaxQBiQ14050.
PaxDbiQ14050.
PRIDEiQ14050.

PTM databases

PhosphoSiteiQ14050.

Expressioni

Gene expression databases

ArrayExpressiQ14050.
BgeeiQ14050.
CleanExiHS_COL9A3.
GenevestigatoriQ14050.

Organism-specific databases

HPAiHPA040125.

Interactioni

Subunit structurei

Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.

Protein-protein interaction databases

BioGridi107696. 1 interaction.
IntActiQ14050. 1 interaction.
STRINGi9606.ENSP00000341640.

Structurei

3D structure databases

ProteinModelPortaliQ14050.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni29 – 519491Triple-helical region 3 (COL3)
Add
BLAST
Regioni520 – 55031Nonhelical region 3 (NC3)
Add
BLAST
Regioni551 – 63080Triple-helical region 2 (COL2)
Add
BLAST
Regioni631 – 6322Nonhelical region 2 (NC2)
Regioni633 – 66129Triple-helical region 1 (COL1)
Add
BLAST
Regioni662 – 68423Nonhelical region 1 (NC1)
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi423 – 4253Cell attachment site Reviewed prediction
Motifi601 – 6033Cell attachment site Reviewed prediction

Sequence similaritiesi

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG297550.
HOGENOMiHOG000085653.
HOVERGENiHBG004933.
InParanoidiQ14050.
KOiK08131.
OMAiTGHKGEP.
OrthoDBiEOG7J180G.
PhylomeDBiQ14050.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 9 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14050-1 [UniParc]FASTAAdd to Basket

« Hide

MAGPRACAPL LLLLLLGELL AAAGAQRVGL PGPPGPPGPP GKPGQDGIDG    50
EAGPPGLPGP PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP 100
GERGSLGPPG PPGLGGKGLP GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP 150
GPPGPPGPPG HPGVLPEGAT DLQCPSICPP GPPGPPGMPG FKGPTGYKGE 200
QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL GPPGDRGPIG 250
FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP 300
GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE 350
RGRAGELGEA GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG 400
VRGFQGQKGS MGDPGLPGPQ GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP 450
GDKGELGPSG LVGPKGESGS RGELGPKGTQ GPNGTSGVQG VPGPPGPLGL 500
QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL AAHLRKPLAP 550
GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD 600
RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP 650
GAIGAQGTPG ICDTSACQGA VLGGVGEKSG SRSS 684
Length:684
Mass (Da):63,616
Last modified:January 23, 2002 - v2
Checksum:i892F035CF6E06733
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941P → S.
Corresponds to variant rs35908728 [ dbSNP | Ensembl ].
VAR_048808
Natural varianti103 – 1031R → Q.1 Publication
Corresponds to variant rs142639450 [ dbSNP | Ensembl ].
VAR_026467
Natural varianti103 – 1031R → W Associated with an increased risk for intervertebral disk disease. 1 Publication
Corresponds to variant rs61734651 [ dbSNP | Ensembl ].
VAR_026468
Natural varianti296 – 2961P → L.1 Publication
Corresponds to variant rs45628843 [ dbSNP | Ensembl ].
VAR_026469
Natural varianti402 – 4021R → Q.1 Publication
VAR_026470
Natural varianti435 – 4351A → E.2 Publications
Corresponds to variant rs751557 [ dbSNP | Ensembl ].
VAR_026471
Natural varianti563 – 5653Missing.
VAR_012660
Natural varianti564 – 5663Missing.
VAR_012661

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti18 – 181E → Q in AAC41947. 1 Publication
Sequence conflicti18 – 181E → Q in AAD47357. 1 Publication
Sequence conflicti39 – 391P → R in AAC41947. 1 Publication
Sequence conflicti144 – 1441S → P in AAC41947. 1 Publication
Sequence conflicti524 – 5241R → H in CAA62495. 1 Publication
Sequence conflicti576 – 5761A → T in CAA62495. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L41162 mRNA. Translation: AAC41947.1.
AF026802, AF026801 Genomic DNA. Translation: AAD47357.1.
AL035669 Genomic DNA. Translation: CAC12750.1.
BC011705 mRNA. Translation: AAH11705.1.
X91013 mRNA. Translation: CAA62495.1.
CCDSiCCDS13505.1.
RefSeqiNP_001844.3. NM_001853.3.
UniGeneiHs.716639.

Genome annotation databases

EnsembliENST00000343916; ENSP00000341640; ENSG00000092758.
GeneIDi1299.
KEGGihsa:1299.
UCSCiuc002ydm.3. human.

Polymorphism databases

DMDMi20137327.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L41162 mRNA. Translation: AAC41947.1 .
AF026802 , AF026801 Genomic DNA. Translation: AAD47357.1 .
AL035669 Genomic DNA. Translation: CAC12750.1 .
BC011705 mRNA. Translation: AAH11705.1 .
X91013 mRNA. Translation: CAA62495.1 .
CCDSi CCDS13505.1.
RefSeqi NP_001844.3. NM_001853.3.
UniGenei Hs.716639.

3D structure databases

ProteinModelPortali Q14050.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107696. 1 interaction.
IntActi Q14050. 1 interaction.
STRINGi 9606.ENSP00000341640.

PTM databases

PhosphoSitei Q14050.

Polymorphism databases

DMDMi 20137327.

Proteomic databases

MaxQBi Q14050.
PaxDbi Q14050.
PRIDEi Q14050.

Protocols and materials databases

DNASUi 1299.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000343916 ; ENSP00000341640 ; ENSG00000092758 .
GeneIDi 1299.
KEGGi hsa:1299.
UCSCi uc002ydm.3. human.

Organism-specific databases

CTDi 1299.
GeneCardsi GC20P061447.
GeneReviewsi COL9A3.
HGNCi HGNC:2219. COL9A3.
HPAi HPA040125.
MIMi 120270. gene.
600969. phenotype.
603932. phenotype.
neXtProti NX_Q14050.
Orphaneti 250984. Autosomal recessive Stickler syndrome.
166002. Multiple epiphyseal dysplasia due to collagen 9 anomaly.
PharmGKBi PA26735.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297550.
HOGENOMi HOG000085653.
HOVERGENi HBG004933.
InParanoidi Q14050.
KOi K08131.
OMAi TGHKGEP.
OrthoDBi EOG7J180G.
PhylomeDBi Q14050.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150401. Collagen degradation.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_18312. NCAM1 interactions.

Miscellaneous databases

ChiTaRSi COL9A3. human.
GeneWikii COL9A3.
GenomeRNAii 1299.
NextBioi 5275.
PROi Q14050.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14050.
Bgeei Q14050.
CleanExi HS_COL9A3.
Genevestigatori Q14050.

Family and domain databases

InterProi IPR008160. Collagen.
[Graphical view ]
Pfami PF01391. Collagen. 9 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3."
    Brewton R.G., Wood B.M., Ren Z.-X., Gong Y., Tiller G.E., Warman M.L., Lee B., Horton W.A., Olsen B.R., Baker J.R., Mayne R.
    Genomics 30:329-336(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-435.
    Tissue: Cartilage.
  2. "Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants."
    Paassilta P., Pihlajamaa T., Annunen S., Brewton R.G., Wood B.M., Johnson C.C., Liu J., Gong Y., Warman M.L., Prockop D.J., Mayne R., Ala-Kokko L.
    J. Biol. Chem. 274:22469-22475(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS 563-GLY--PRO-565 DEL AND 564-PRO--GLY-566 DEL.
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  5. "Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis."
    Peraelae M., Savontaus M., Metsaeranta M., Vuorio E.
    Biochem. J. 324:209-216(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 522-667.
    Tissue: Cartilage.
  6. Cited for: INVOLVEMENT IN EDM3.
  7. Erratum
    Paassilta P., Lohiniva J., Annunen S., Bonaventure J., Le Merrer M., Pai L., Ala-Kokko L.
    Am. J. Hum. Genet. 65:1214-1214(1999)
  8. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO IDD.
  9. Cited for: VARIANTS GLN-103; TRP-103; LEU-296; GLN-402 AND GLU-435.

Entry informationi

Entry nameiCO9A3_HUMAN
AccessioniPrimary (citable) accession number: Q14050
Secondary accession number(s): Q13681, Q9H4G9, Q9UPE2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: September 3, 2014
This is version 143 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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