COL27A1

Protein identityUniProt · HPA

UniProt accession

Q8IZC6

Gene

COL27A1

Ensembl

ENSG00000196739

Chromosome

9

Canonical length

1860 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

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 followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

1860 residues, UniProt reviewed canonical sequence.

>Q8IZC6|COL27A1
     1  MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ RLGLSWTKAG
    61  SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL VLSLCSHRVN HAFLFAVRSQ
   121  KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD MHDGRWHHLA LELRGRTVTL VTACGQRRVP
   181  VLLPFHRDPA LDPGGSFLFG KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD
   241  TYQSPLGPLF SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP
   301  QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP AAAQPSQKIT
   361  ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA LPTQKQVPPT SRPVPARVSR
   421  PAEKPIQRNP GMPRPPPPST RPLPPTTSSS KKPIPTLART EAKITSHASK PASARTSTHK
   481  PPPFTALSSS PAPTPGSTRS TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPIGSE
   541  ASKKAGPKSS PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS
   601  SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA RGPRGPPGPY
   661  GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG NPGPPGRKGH KGYPGPAGHP
   721  GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP GPKGSRGYIG LPGLFGLPGS DGERGLPGVP
   781  GKRGKMGMPG FPGVFGERGP PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK
   841  GLMGSVGEPG LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI
   901  GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP MGPPGAPGLE
   961  GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG LVGEPGIVGE KGDRGMMGPP
  1021  GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR
  1081  GLKGPPGPQG RPGRPGQQGV AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI
  1141  GPPGEMGPKG PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD
  1201  GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE KGRTGAKGAK
  1261  GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG AQGEPGLAGY DGHKGIVGPL
  1321  GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ
  1381  QGQPGHPGPR GWPGPKGSKG AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI
  1441  AGPDGLPGRD GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ
  1501  LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG DIGFKGIQGP
  1561  RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ GPRGPPGPRG RPGPPGPPGG
  1621  PIQLQQDDLG AAFQTWMDTS GALRPESYSY PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL
  1681  GTKENPARVC RDLMDCEQKM VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV
  1741  EFAISRVQMN FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG
  1801  QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY RLEVGPACFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL27A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

113 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL27A1.

Disease | AllUniProt

Conditions COL27A1 is implicated in, by any mechanism.

• Steel syndrome (STLS) MIM:615155

Disease | GeneticClinVar

159 pathogenic / likely-pathogenic of 2,519 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Steel syndrome
• Inborn genetic diseases
• COL27A1-related disorder
• Thyroid cancer, nonmedullary, 1
• Familial cancer of breast

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.59

gnomAD missense Z

0.63

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• extracellular matrix organization
• growth plate cartilage chondrocyte development
• skeletal system development

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• metal ion binding

Cellular components

• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• collagen type XXVII trimer

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• Collagen triple helix repeat
• Concanavalin A-like lectin/glucanase domain superfamily
• Thrombospondin-like, N-terminal domain
• Collagen and Collagen-like Structural Proteins
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain

KeywordsUniProt

• Calcium
• Collagen
• Disulfide bond
• Dwarfism
• Extracellular matrix
• Glycoprotein
• Metal-binding
• Repeat
• Secreted
• Signal