• Gene id: 1301

Gene Summary

• Gene Symbol: COL11A1   Gene   UCSC   Ensembl
• Aliases: CO11A1, COLL6, DFNA37, STL2
• Gene name: collagen type XI alpha 1 chain
• Alternate names: collagen alpha-1(XI) chain, collagen XI, alpha-1 polypeptide, collagen, type XI, alpha 1, deafness, autosomal dominant 37,
• Gene location: 1p21.1 (103108579: 102876466)     Exons: 71     NC_000001.11
• Gene summary(Entrez): This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated wit
• OMIM: 120280

Protein Summary

• Protein general information: P12107  
  • Name: Collagen alpha 1(XI) chain
  • Length: 1806  
  • Mass: 181065
  • Tissue specificity: Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.
• Sequence:

  MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGSDTAYR
  VSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPED
  YPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLI
  TGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
  NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLYENKEIDGRDSDLLVD
  GDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPA
  GIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARI
  ALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
  GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPP
  GPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPP
  GPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDP
  GPSGQAGEKGKLGVPGLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
  GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPT
  GETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQ
  GPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGED
  GDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
  GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEAGNPGPPGEAGVGGPK
  GERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPS
  GEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAA
  GQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
  GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEGMQADADDNILDYSDG
  MEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIY
  PDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSS
  GSYDKALRFLGSNDEEMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
  PVCFLG

• Structural information:
  • Protein Domains: (71..24-)
    (/note="Laminin-G-like)
    (442..49-)
    (/note="Collagen-like-1)
    (532..58-)
    (/note="Collagen-like-2)
    (583..64-)
    (/note="Collagen-like-3)
    (616..67-)
    (/note="Collagen-like-4)
    (643..69-)
    (/note="Collagen-like-5";)
  • Interpro: IPR008160  IPR013320  IPR000885  IPR001791  
  • Prosite: PS51461
  • STRING: ENSP00000359114
• Other Databases: GeneCards:  COL11A1  Malacards:  COL11A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005592	collagen type XI trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0035989	tendon development	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0002063	chondrocyte development	IEA	biological process
GO:1904399	heparan sulfate binding	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0001503	ossification	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0006029	proteoglycan metabolic process	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001502	cartilage condensation	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005592	collagen type XI trimer	IDA	cellular component
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IMP	biological process
GO:0030198	extracellular matrix organization	NAS	biological process
GO:0005592	collagen type XI trimer	NAS	cellular component
GO:0050840	extracellular matrix binding	NAS	molecular function
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0005201	extracellular matrix structural constituent	NAS	molecular function
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0030199	collagen fibril organization	NAS	biological process
GO:0007605	sensory perception of sound	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Stickler syndrome	KEGG:H02072
Vitreoretinal degeneration	KEGG:H00805
Fibrochondrogenesis	KEGG:H02080
Marshall syndrome	KEGG:H02081
Stickler syndrome	KEGG:H02072
Vitreoretinal degeneration	KEGG:H00805
Fibrochondrogenesis	KEGG:H02080
Marshall syndrome	KEGG:H02081
Marshall syndrome	PMID:9529347
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray