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Q14050 (CO9A3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Collagen alpha-3(IX) chain
Gene names
Name:COL9A3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Structural component of hyaline cartilage and vitreous of the eye.

Subunit structure

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

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Post-translational modification

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.

Involvement in disease

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. Ref.6

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 (Ref.8). Ref.8

Sequence similarities

Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 684659Collagen alpha-3(IX) chain
PRO_0000005848

Regions

Region29 – 519491Triple-helical region 3 (COL3)
Region520 – 55031Nonhelical region 3 (NC3)
Region551 – 63080Triple-helical region 2 (COL2)
Region631 – 6322Nonhelical region 2 (NC2)
Region633 – 66129Triple-helical region 1 (COL1)
Region662 – 68423Nonhelical region 1 (NC1)
Motif423 – 4253Cell attachment site Potential
Motif601 – 6033Cell attachment site Potential

Amino acid modifications

Glycosylation4831N-linked (GlcNAc...) Potential

Natural variations

Natural variant941P → S.
Corresponds to variant rs35908728 [ dbSNP | Ensembl ].
VAR_048808
Natural variant1031R → Q. Ref.9
Corresponds to variant rs142639450 [ dbSNP | Ensembl ].
VAR_026467
Natural variant1031R → W Associated with an increased risk for intervertebral disk disease. Ref.9
Corresponds to variant rs61734651 [ dbSNP | Ensembl ].
VAR_026468
Natural variant2961P → L. Ref.9
Corresponds to variant rs45628843 [ dbSNP | Ensembl ].
VAR_026469
Natural variant4021R → Q. Ref.9
VAR_026470
Natural variant4351A → E. Ref.1 Ref.9
Corresponds to variant rs751557 [ dbSNP | Ensembl ].
VAR_026471
Natural variant563 – 5653Missing.
VAR_012660
Natural variant564 – 5663Missing.
VAR_012661

Experimental info

Sequence conflict181E → Q in AAC41947. Ref.1
Sequence conflict181E → Q in AAD47357. Ref.2
Sequence conflict391P → R in AAC41947. Ref.1
Sequence conflict1441S → P in AAC41947. Ref.1
Sequence conflict5241R → H in CAA62495. Ref.5
Sequence conflict5761A → T in CAA62495. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q14050 [UniParc].

Last modified January 23, 2002. Version 2.
Checksum: 892F035CF6E06733

FASTA68463,616
        10         20         30         40         50         60 
MAGPRACAPL LLLLLLGELL AAAGAQRVGL PGPPGPPGPP GKPGQDGIDG EAGPPGLPGP 

        70         80         90        100        110        120 
PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP GERGSLGPPG PPGLGGKGLP 

       130        140        150        160        170        180 
GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP GPPGPPGPPG HPGVLPEGAT DLQCPSICPP 

       190        200        210        220        230        240 
GPPGPPGMPG FKGPTGYKGE QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL 

       250        260        270        280        290        300 
GPPGDRGPIG FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP 

       310        320        330        340        350        360 
GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE RGRAGELGEA 

       370        380        390        400        410        420 
GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG VRGFQGQKGS MGDPGLPGPQ 

       430        440        450        460        470        480 
GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP GDKGELGPSG LVGPKGESGS RGELGPKGTQ 

       490        500        510        520        530        540 
GPNGTSGVQG VPGPPGPLGL QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL 

       550        560        570        580        590        600 
AAHLRKPLAP GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD 

       610        620        630        640        650        660 
RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP GAIGAQGTPG 

       670        680 
ICDTSACQGA VLGGVGEKSG SRSS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"COL9A3: A third locus for multiple epiphyseal dysplasia."
Paassilta P., Lohiniva J., Annunen S., Bonaventure J., Le Merrer M., Pai L., Ala-Kokko L.
Am. J. Hum. Genet. 64:1036-1044(1999) [PubMed] [Europe PMC] [Abstract]
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]"Identification of a novel common genetic risk factor for lumbar disk disease."
Paassilta P., Lohiniva J., Goring H.H., Perala M., Raina S.S., Karppinen J., Hakala M., Palm T., Kroger H., Kaitila I., Vanharanta H., Ott J., Ala-Kokko L.
JAMA 285:1843-1849(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO IDD.
[9]"A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity."
Czarny-Ratajczak M., Lohiniva J., Rogala P., Kozlowski K., Peraelae M., Carter L., Spector T.D., Kolodziej L., Seppaenen U., Glazar R., Krolewski J., Latos-Bielenska A., Ala-Kokko L.
Am. J. Hum. Genet. 69:969-980(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-103; TRP-103; LEU-296; GLN-402 AND GLU-435.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001844.3. NM_001853.3.
UniGeneHs.716639.

3D structure databases

ProteinModelPortalQ14050.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107696. 1 interaction.
IntActQ14050. 1 interaction.
STRING9606.ENSP00000341640.

PTM databases

PhosphoSiteQ14050.

Polymorphism databases

DMDM20137327.

Proteomic databases

PaxDbQ14050.
PRIDEQ14050.

Protocols and materials databases

DNASU1299.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000343916; ENSP00000341640; ENSG00000092758.
GeneID1299.
KEGGhsa:1299.
UCSCuc002ydm.3. human.

Organism-specific databases

CTD1299.
GeneCardsGC20P061447.
HGNCHGNC:2219. COL9A3.
HPAHPA040125.
MIM120270. gene.
600969. phenotype.
603932. phenotype.
neXtProtNX_Q14050.
Orphanet166002. Multiple epiphyseal dysplasia due to collagen 9 anomaly.
PharmGKBPA26735.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297550.
HOGENOMHOG000085653.
HOVERGENHBG004933.
InParanoidQ14050.
KOK08131.
OMATGHKGEP.
OrthoDBEOG7J180G.
PhylomeDBQ14050.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_111102. Signal Transduction.
REACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ14050.
BgeeQ14050.
CleanExHS_COL9A3.
GenevestigatorQ14050.

Family and domain databases

InterProIPR008160. Collagen.
[Graphical view]
PfamPF01391. Collagen. 9 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCOL9A3. human.
GeneWikiCOL9A3.
GenomeRNAi1299.
NextBio5275.
PROQ14050.
SOURCESearch...

Entry information

Entry nameCO9A3_HUMAN
AccessionPrimary (citable) accession number: Q14050
Secondary accession number(s): Q13681, Q9H4G9, Q9UPE2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: April 16, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM