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Q14050

- CO9A3_HUMAN

UniProt

Q14050 - CO9A3_HUMAN

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
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    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 (PubMed:11308397).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 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 684659Collagen alpha-3(IX) chainPRO_0000005848Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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 siteSequence Analysis
    Motifi601 – 6033Cell attachment siteSequence Analysis

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti18 – 181E → Q in AAC41947. (PubMed:8586434)Curated
    Sequence conflicti18 – 181E → Q in AAD47357. (PubMed:10428822)Curated
    Sequence conflicti39 – 391P → R in AAC41947. (PubMed:8586434)Curated
    Sequence conflicti144 – 1441S → P in AAC41947. (PubMed:8586434)Curated
    Sequence conflicti524 – 5241R → H in CAA62495. (PubMed:9164858)Curated
    Sequence conflicti576 – 5761A → T in CAA62495. (PubMed:9164858)Curated

    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.1 Publication
    VAR_012660
    Natural varianti564 – 5663Missing.1 Publication
    VAR_012661

    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

    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: October 1, 2014
    This is version 144 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