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Protein

Collagen alpha-3(IX) chain

Gene

COL9A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Structural component of hyaline cartilage and vitreous of the eye.

GO - Molecular functioni

  • extracellular matrix structural constituent Source: GO_Central
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-3(IX) chain
Gene namesi
Name:COL9A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000092758.15
HGNCiHGNC:2219 COL9A3
MIMi120270 gene
neXtProtiNX_Q14050

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Multiple epiphyseal dysplasia 3 (EDM3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600969
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07273635G → D in EDM3. 1 PublicationCorresponds to variant dbSNP:rs1390736361Ensembl.1
Intervertebral disc disease (IDD)2 Publications
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
Disease descriptionA common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
See also OMIM:603932

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi1299
GeneReviewsiCOL9A3
MalaCardsiCOL9A3
MIMi600969 phenotype
603932 phenotype
OpenTargetsiENSG00000092758
Orphaneti250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
PharmGKBiPA26735

Polymorphism and mutation databases

BioMutaiCOL9A3
DMDMi20137327

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000584826 – 684Collagen alpha-3(IX) chainAdd BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi483N-linked (GlcNAc...) asparagineSequence analysis1

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

EPDiQ14050
MaxQBiQ14050
PaxDbiQ14050
PeptideAtlasiQ14050
PRIDEiQ14050
ProteomicsDBi59803

PTM databases

iPTMnetiQ14050
PhosphoSitePlusiQ14050

Expressioni

Gene expression databases

BgeeiENSG00000092758 Expressed in 181 organ(s), highest expression level in tibia
CleanExiHS_COL9A3
ExpressionAtlasiQ14050 baseline and differential
GenevisibleiQ14050 HS

Organism-specific databases

HPAiHPA040125
HPA058323

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 interactor
ComplexPortaliCPX-1748 Collagen type IX trimer
IntActiQ14050, 1 interactor
STRINGi9606.ENSP00000341640

Structurei

Secondary structure

1684
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14050
SMRiQ14050
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni29 – 519Triple-helical region 3 (COL3)Add BLAST491
Regioni520 – 550Nonhelical region 3 (NC3)Add BLAST31
Regioni551 – 630Triple-helical region 2 (COL2)Add BLAST80
Regioni631 – 632Nonhelical region 2 (NC2)2
Regioni633 – 661Triple-helical region 1 (COL1)Add BLAST29
Regioni662 – 684Nonhelical region 1 (NC1)Add BLAST23

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi423 – 425Cell attachment siteSequence analysis3
Motifi601 – 603Cell attachment siteSequence analysis3

Sequence similaritiesi

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00900000140850
HOGENOMiHOG000085653
HOVERGENiHBG004933
InParanoidiQ14050
KOiK08131
OMAiFKGPTGY
OrthoDBiEOG091G0C0F
PhylomeDBiQ14050

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
PfamiView protein in Pfam
PF01391 Collagen, 6 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q14050-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGPRACAPL LLLLLLGELL AAAGAQRVGL PGPPGPPGPP GKPGQDGIDG
60 70 80 90 100
EAGPPGLPGP PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP
110 120 130 140 150
GERGSLGPPG PPGLGGKGLP GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP
160 170 180 190 200
GPPGPPGPPG HPGVLPEGAT DLQCPSICPP GPPGPPGMPG FKGPTGYKGE
210 220 230 240 250
QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL GPPGDRGPIG
260 270 280 290 300
FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP
310 320 330 340 350
GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE
360 370 380 390 400
RGRAGELGEA GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG
410 420 430 440 450
VRGFQGQKGS MGDPGLPGPQ GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP
460 470 480 490 500
GDKGELGPSG LVGPKGESGS RGELGPKGTQ GPNGTSGVQG VPGPPGPLGL
510 520 530 540 550
QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL AAHLRKPLAP
560 570 580 590 600
GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD
610 620 630 640 650
RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP
660 670 680
GAIGAQGTPG ICDTSACQGA VLGGVGEKSG SRSS
Length:684
Mass (Da):63,616
Last modified:January 23, 2002 - v2
Checksum:i892F035CF6E06733
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q4VXW1Q4VXW1_HUMAN
Collagen alpha-3(IX) chain
COL9A3
191Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18E → Q in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti18E → Q in AAD47357 (PubMed:10428822).Curated1
Sequence conflicti39P → R in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti144S → P in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti524R → H in CAA62495 (PubMed:9164858).Curated1
Sequence conflicti576A → T in CAA62495 (PubMed:9164858).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07273635G → D in EDM3. 1 PublicationCorresponds to variant dbSNP:rs1390736361Ensembl.1
Natural variantiVAR_04880894P → S. Corresponds to variant dbSNP:rs35908728EnsemblClinVar.1
Natural variantiVAR_026467103R → Q1 PublicationCorresponds to variant dbSNP:rs142639450EnsemblClinVar.1
Natural variantiVAR_026468103R → W Associated with an increased risk for intervertebral disk disease. 1 PublicationCorresponds to variant dbSNP:rs61734651EnsemblClinVar.1
Natural variantiVAR_026469296P → L1 PublicationCorresponds to variant dbSNP:rs45628843EnsemblClinVar.1
Natural variantiVAR_026470402R → Q1 PublicationCorresponds to variant dbSNP:rs373519549Ensembl.1
Natural variantiVAR_026471435A → E2 PublicationsCorresponds to variant dbSNP:rs751557EnsemblClinVar.1
Natural variantiVAR_012660563 – 565Missing 1 Publication3
Natural variantiVAR_012661564 – 566Missing 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41162 mRNA Translation: AAC41947.1
AF026802, AF026801 Genomic DNA Translation: AAD47357.1
AL035669 Genomic DNA No translation available.
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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L41162 mRNA Translation: AAC41947.1
AF026802, AF026801 Genomic DNA Translation: AAD47357.1
AL035669 Genomic DNA No translation available.
BC011705 mRNA Translation: AAH11705.1
X91013 mRNA Translation: CAA62495.1
CCDSiCCDS13505.1
RefSeqiNP_001844.3, NM_001853.3
UniGeneiHs.716639

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60C517-553[»]
5CTIX-ray1.90C517-553[»]
5CVAX-ray2.10C/F517-553[»]
5CVBX-ray2.25C/F517-553[»]
ProteinModelPortaliQ14050
SMRiQ14050
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107696, 1 interactor
ComplexPortaliCPX-1748 Collagen type IX trimer
IntActiQ14050, 1 interactor
STRINGi9606.ENSP00000341640

PTM databases

iPTMnetiQ14050
PhosphoSitePlusiQ14050

Polymorphism and mutation databases

BioMutaiCOL9A3
DMDMi20137327

Proteomic databases

EPDiQ14050
MaxQBiQ14050
PaxDbiQ14050
PeptideAtlasiQ14050
PRIDEiQ14050
ProteomicsDBi59803

Protocols and materials databases

DNASUi1299
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1299
DisGeNETi1299
EuPathDBiHostDB:ENSG00000092758.15
GeneCardsiCOL9A3
GeneReviewsiCOL9A3
HGNCiHGNC:2219 COL9A3
HPAiHPA040125
HPA058323
MalaCardsiCOL9A3
MIMi120270 gene
600969 phenotype
603932 phenotype
neXtProtiNX_Q14050
OpenTargetsiENSG00000092758
Orphaneti250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
PharmGKBiPA26735
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00900000140850
HOGENOMiHOG000085653
HOVERGENiHBG004933
InParanoidiQ14050
KOiK08131
OMAiFKGPTGY
OrthoDBiEOG091G0C0F
PhylomeDBiQ14050

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

ChiTaRSiCOL9A3 human
GeneWikiiCOL9A3
GenomeRNAii1299
PROiPR:Q14050
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092758 Expressed in 181 organ(s), highest expression level in tibia
CleanExiHS_COL9A3
ExpressionAtlasiQ14050 baseline and differential
GenevisibleiQ14050 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
PfamiView protein in Pfam
PF01391 Collagen, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCO9A3_HUMAN
AccessioniPrimary (citable) accession number: Q14050
Secondary accession number(s): Q13681, Q9H4G9, Q9UPE2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: January 23, 2002
Last modified: November 7, 2018
This is version 176 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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