• Gene id: 1297

Gene Summary

• Gene Symbol: COL9A1   Gene   UCSC   Ensembl
• Aliases: DJ149L1.1.2, EDM6, MED, STL4
• Gene name: collagen type IX alpha 1 chain
• Alternate names: collagen alpha-1(IX) chain, alpha-1(IX) collagen chain, cartilage-specific short collagen, collagen IX, alpha-1 polypeptide, collagen, type IX, alpha 1,
• Gene location: 6q13 (70303083: 70215060)     Exons: 43     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 120210

Protein Summary

• Protein general information: P20849  
  • Name: Collagen alpha 1(IX) chain
  • Length: 921  
  • Mass: 91869
• Sequence:

  MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAASRRAIQ
  RVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKEQVGIKINGQT
  QSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLAD
  NPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGP
  PGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIPGPPGPPGTAGLPGEL
  GRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRSGYPGLPGMRGHKGAKGEIGEPGRQGHKGEE
  GDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGAR
  GIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQM
  GNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPK
  GEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQ
  GPPGRAPTDQHIKQVCMRVIQEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPP
  GALGLRGPKGDLGEKGERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGF
  CEPASCTMQAGQRAFNKGPDP

• Structural information:
  • Protein Domains: (50..24-)
    (/note="Laminin-G-like)
    (269..32-)
    (/note="Collagen-like-1)
    (325..35-)
    (/note="Collagen-like-2)
    (358..40-)
    (/note="Collagen-like-3)
    (416..47-)
    (/note="Collagen-like-4)
    (473..51-)
    (/note="Collagen-like-5";)
  • Interpro: IPR008160  IPR013320  IPR001791  
  • PDB: 2UUR 5CTD 5CTI 5CVA 5CVB
  • PDBsum: 2UUR 5CTD 5CTI 5CVA 5CVB
  • STRING: ENSP00000349790
• Other Databases: GeneCards:  COL9A1  Malacards:  COL9A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005594	collagen type IX trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IC	molecular function
GO:0005594	collagen type IX trimer	IDA	cellular component
GO:0005594	collagen type IX trimer	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Multiple epiphyseal dysplasia	KEGG:H00476
Stickler syndrome	KEGG:H02072
Multiple epiphyseal dysplasia	KEGG:H00476
Stickler syndrome	KEGG:H02072
Osteochondrodysplasia	PMID:11565064
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881