• Gene id: 85301

Gene Summary

• Gene Symbol: COL27A1   Gene   UCSC   Ensembl
• Aliases: STLS
• Gene name: collagen type XXVII alpha 1 chain
• Alternate names: collagen alpha-1(XXVII) chain, collagen, type XXVII, alpha 1,
• Gene location: 9q32 (114154270: 114312510)     Exons: 66     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is
• OMIM: 611754

Protein Summary

• Protein general information: Q8IZC6  
  • Name: Collagen alpha 1(XXVII) chain
  • Length: 1860  
  • Mass: 186892
• Sequence:

  MGAGSARGARGTAAAAAARGGGFLFSWILVSFACHLASTQGAPEDVDILQRLGLSWTKAGSPAPPGVIPFQSGFI
  FTQRARLQAPTGTVIPAALGTELALVLSLCSHRVNHAFLFAVRSQKRKLQLGLQFLPGKTVVHLGSRRSVAFDLD
  MHDGRWHHLALELRGRTVTLVTACGQRRVPVLLPFHRDPALDPGGSFLFGKMNPHAVQFEGALCQFSIYPVTQVA
  HNYCTHLRKQCGQADTYQSPLGPLFSQDSGRPFTFQSDLALLGLENLTTATPALGSLPAGRGPRGTVAPATPTKP
  QRTSPTNPHQHMAVGGPAQTPLLPAKLSASNALDPMLPASVGGSTRTPRPAAAQPSQKITATKIPKSLPTKPSAP
  STSIVPIKSPHPTQKTAPSSFTKSALPTQKQVPPTSRPVPARVSRPAEKPIQRNPGMPRPPPPSTRPLPPTTSSS
  KKPIPTLARTEAKITSHASKPASARTSTHKPPPFTALSSSPAPTPGSTRSTRPPATMVPPTSGTSTPRTAPAVPT
  PGSAPTGSKKPIGSEASKKAGPKSSPRKPVPLRPGKAARDVPLSDLTTRPSPRQPQPSQQTTPALVLAPAQFLSS
  SPRPTSSGYSIFHLAGSTPFPLLMGPPGPKGDCGLPGPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQK
  GDPGLSPGKAHDGAKGDMGLPGLSGNPGPPGRKGHKGYPGPAGHPGEQGQPGPEGSPGAKGYPGRQGLPGPVGDP
  GPKGSRGYIGLPGLFGLPGSDGERGLPGVPGKRGKMGMPGFPGVFGERGPPGLDGNPGELGLPGPPGVPGLIGDL
  GVLGPIGYPGPKGMKGLMGSVGEPGLKGDKGEQGVPGVSGDPGFQGDKGSQGLPGFPGARGKPGPLGKVGDKGSI
  GFPGPPGPEGFPGDIGPPGDNGPEGMKGKPGARGLPGPRGQLGPEGDEGPMGPPGAPGLEGQPGRKGFPGRPGLD
  GVKGEPGDPGRPGPVGEQGFMGFIGLVGEPGIVGEKGDRGMMGPPGVPGPKGSMGHPGMPGGMGTPGEPGPQGPP
  GSRGPPGMRGAKGRRGPRGPDGPAGEQGSRGLKGPPGPQGRPGRPGQQGVAGERGHLGSRGFPGIPGPSGPPGTK
  GLPGEPGPQGPQGPIGPPGEMGPKGPPGAVGEPGLPGEAGMKGDLGPLGTPGEQGLIGQRGEPGLEGDSGPMGPD
  GLKGDRGDPGPDGEHGEKGQEGLMGEDGPPGPPGVTGVRGPEGKSGKQGEKGRTGAKGAKGYQGQLGEMGVPGDP
  GPPGTPGPKGSRGSLGPTGAPGRMGAQGEPGLAGYDGHKGIVGPLGPPGPKGEKGEQGEDGKAEGPPGPPGDRGP
  VGDRGDRGEPGDPGYPGQEGVQGLRGKPGQQGQPGHPGPRGWPGPKGSKGAEGPKGKQGKAGAPGRRGVQGLQGL
  PGPRGVVGRQGLEGIAGPDGLPGRDGQAGQQGEQGDDGDPGPMGPAGKRGNPGVAGLPGAQGPPGFKGESGLPGQ
  LGPPGKRGTEGRTGLPGNQGEPGSKGQPGDSGEMGFPGMAGLFGPKGPPGDIGFKGIQGPRGPPGLMGKEGIVGP
  LGILGPSGLPGPKGDKGSRGDWGLQGPRGPPGPRGRPGPPGPPGGPIQLQQDDLGAAFQTWMDTSGALRPESYSY
  PDRLVLDQGGEIFKTLHYLSNLIQSIKTPLGTKENPARVCRDLMDCEQKMVDGTYWVDPNLGCSSDTIEVSCNFT
  HGGQTCLKPITASKVEFAISRVQMNFLHLLSSEVTQHITIHCLNMTVWQEGTGQTPAKQAVRFRAWNGQIFEAGG
  QFRPEVSMDGCKVQDGRWHQTLFTFRTQDPQQLPIISVDNLPPASSGKQYRLEVGPACFL

• Structural information:
  • Protein Domains: (71..23-)
    (/note="Laminin-G-like)
    (625..67-)
    (/note="Collagen-like-1)
    (688..74-)
    (/note="Collagen-like-2)
    (748..80-)
    (/note="Collagen-like-3)
    (808..86-)
    (/note="Collagen-like-4)
    (871..93-)
    (/note="Collagen-like-5";)
  • Interpro: IPR008160  IPR013320  IPR000885  IPR001791  
  • Prosite: PS51461
  • STRING: ENSP00000348385
• Other Databases: GeneCards:  COL27A1  Malacards:  COL27A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0003431	growth plate cartilage chondrocyte development	IEA	biological process
GO:0005583	fibrillar collagen trimer	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Steel syndrome	KEGG:H02300
Steel syndrome	KEGG:H02300
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq