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Protein

Collagen alpha-1(XXVII) chain

Gene

COL27A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role during the calcification of cartilage and the transition of cartilage to bone.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1708CalciumBy similarity1
Metal bindingi1710CalciumBy similarity1
Metal bindingi1713Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1716CalciumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33651-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-8874081. MET activates PTK2 signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XXVII) chain
Gene namesi
Name:COL27A1
Synonyms:KIAA1870
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:22986. COL27A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Steel syndrome (STLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge.
See also OMIM:615155
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072564697G → R in STLS. 1 PublicationCorresponds to variant rs140950220dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi85301.
MalaCardsiCOL27A1.
MIMi615155. phenotype.
OpenTargetsiENSG00000196739.
PharmGKBiPA134990818.

Chemistry databases

ChEMBLiCHEMBL2364188.

Polymorphism and mutation databases

BioMutaiCOL27A1.
DMDMi74762504.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 41Sequence analysisAdd BLAST41
PropeptideiPRO_000031466742 – 624N-terminal propeptideAdd BLAST583
ChainiPRO_5000089163625 – 1621Collagen alpha-1(XXVII) chainAdd BLAST997
PropeptideiPRO_00003146681622 – 1860C-terminal propeptideAdd BLAST239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi271N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1690 ↔ 1722PROSITE-ProRule annotation
Disulfide bondi1696Interchain (with C-1285)PROSITE-ProRule annotation
Disulfide bondi1713Interchain (with C-1268)PROSITE-ProRule annotation
Disulfide bondi1731 ↔ 1858PROSITE-ProRule annotation
Disulfide bondi1767 ↔ 1811PROSITE-ProRule annotation
Glycosylationi1769N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IZC6.
PeptideAtlasiQ8IZC6.
PRIDEiQ8IZC6.

PTM databases

iPTMnetiQ8IZC6.
PhosphoSitePlusiQ8IZC6.

Expressioni

Developmental stagei

Detected at E67 in the primary ossification center and is tightly restricted to the pericellular region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At fetal 20-week highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around cells in the resting and proliferative zone of the cartilaginous plate, but the intense detection occurred deep in the hypertrophic zone near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this zone it is also closely situated around hypertrophic chondrocytes.1 Publication

Gene expression databases

BgeeiENSG00000196739.
CleanExiHS_COL27A1.
ExpressionAtlasiQ8IZC6. baseline and differential.
GenevisibleiQ8IZC6. HS.

Organism-specific databases

HPAiHPA021884.
HPA048471.

Interactioni

Protein-protein interaction databases

BioGridi124464. 1 interactor.
IntActiQ8IZC6. 1 interactor.
MINTiMINT-7970406.
STRINGi9606.ENSP00000348385.

Structurei

3D structure databases

ProteinModelPortaliQ8IZC6.
SMRiQ8IZC6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini71 – 236Laminin G-likeAdd BLAST166
Domaini625 – 679Collagen-like 1Add BLAST55
Domaini688 – 747Collagen-like 2Add BLAST60
Domaini748 – 807Collagen-like 3Add BLAST60
Domaini808 – 867Collagen-like 4Add BLAST60
Domaini871 – 930Collagen-like 5Add BLAST60
Domaini931 – 990Collagen-like 6Add BLAST60
Domaini1003 – 1062Collagen-like 7Add BLAST60
Domaini1066 – 1125Collagen-like 8Add BLAST60
Domaini1126 – 1185Collagen-like 9Add BLAST60
Domaini1192 – 1251Collagen-like 10Add BLAST60
Domaini1258 – 1317Collagen-like 11Add BLAST60
Domaini1318 – 1378Collagen-like 12Add BLAST61
Domaini1382 – 1441Collagen-like 13Add BLAST60
Domaini1442 – 1501Collagen-like 14Add BLAST60
Domaini1502 – 1561Collagen-like 15Add BLAST60
Domaini1562 – 1621Collagen-like 16Add BLAST60
Domaini1660 – 1860Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST201

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni625 – 1618Triple-helical regionAdd BLAST994

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi283 – 1621Pro-richAdd BLAST1339

Domaini

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).By similarity

Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Contains 16 collagen-like domains.Curated
Contains 1 fibrillar collagen NC1 domain.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085654.
HOVERGENiHBG098141.
InParanoidiQ8IZC6.
KOiK19721.
OMAiTWMDTSG.
OrthoDBiEOG091G00WS.
PhylomeDBiQ8IZC6.
TreeFamiTF344135.

Family and domain databases

InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 13 hits.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZC6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ
60 70 80 90 100
RLGLSWTKAG SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL
110 120 130 140 150
VLSLCSHRVN HAFLFAVRSQ KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD
160 170 180 190 200
MHDGRWHHLA LELRGRTVTL VTACGQRRVP VLLPFHRDPA LDPGGSFLFG
210 220 230 240 250
KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD TYQSPLGPLF
260 270 280 290 300
SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP
310 320 330 340 350
QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP
360 370 380 390 400
AAAQPSQKIT ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA
410 420 430 440 450
LPTQKQVPPT SRPVPARVSR PAEKPIQRNP GMPRPPPPST RPLPPTTSSS
460 470 480 490 500
KKPIPTLART EAKITSHASK PASARTSTHK PPPFTALSSS PAPTPGSTRS
510 520 530 540 550
TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPIGSE ASKKAGPKSS
560 570 580 590 600
PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS
610 620 630 640 650
SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA
660 670 680 690 700
RGPRGPPGPY GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG
710 720 730 740 750
NPGPPGRKGH KGYPGPAGHP GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP
760 770 780 790 800
GPKGSRGYIG LPGLFGLPGS DGERGLPGVP GKRGKMGMPG FPGVFGERGP
810 820 830 840 850
PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK GLMGSVGEPG
860 870 880 890 900
LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI
910 920 930 940 950
GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP
960 970 980 990 1000
MGPPGAPGLE GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG
1010 1020 1030 1040 1050
LVGEPGIVGE KGDRGMMGPP GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP
1060 1070 1080 1090 1100
GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR GLKGPPGPQG RPGRPGQQGV
1110 1120 1130 1140 1150
AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI GPPGEMGPKG
1160 1170 1180 1190 1200
PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD
1210 1220 1230 1240 1250
GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE
1260 1270 1280 1290 1300
KGRTGAKGAK GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG
1310 1320 1330 1340 1350
AQGEPGLAGY DGHKGIVGPL GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP
1360 1370 1380 1390 1400
VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ QGQPGHPGPR GWPGPKGSKG
1410 1420 1430 1440 1450
AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI AGPDGLPGRD
1460 1470 1480 1490 1500
GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ
1510 1520 1530 1540 1550
LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG
1560 1570 1580 1590 1600
DIGFKGIQGP RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ
1610 1620 1630 1640 1650
GPRGPPGPRG RPGPPGPPGG PIQLQQDDLG AAFQTWMDTS GALRPESYSY
1660 1670 1680 1690 1700
PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL GTKENPARVC RDLMDCEQKM
1710 1720 1730 1740 1750
VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV EFAISRVQMN
1760 1770 1780 1790 1800
FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG
1810 1820 1830 1840 1850
QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY
1860
RLEVGPACFL
Length:1,860
Mass (Da):186,892
Last modified:March 1, 2003 - v1
Checksum:i5F8CDFAF4B6014EC
GO
Isoform 2 (identifier: Q8IZC6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1033: Missing.

Note: No experimental confirmation available.
Show »
Length:827
Mass (Da):82,801
Checksum:i3941B3A8696704BB
GO
Isoform 3 (identifier: Q8IZC6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     637-703: GPPGLPGLPG...GLPGLSGNPG → VRLSGVCMLL...CIIAHPAPDS
     704-1860: Missing.

Note: No experimental confirmation available.
Show »
Length:703
Mass (Da):73,105
Checksum:i9D3751FE90AE9E0D
GO

Sequence cautioni

The sequence BAB47499 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04878489V → I.Corresponds to variant rs2567707dbSNPEnsembl.1
Natural variantiVAR_048785120Q → R.Corresponds to variant rs2567706dbSNPEnsembl.1
Natural variantiVAR_048786265A → T.Corresponds to variant rs34578955dbSNPEnsembl.1
Natural variantiVAR_048787349R → C.Corresponds to variant rs34973417dbSNPEnsembl.1
Natural variantiVAR_048788422A → T.1 PublicationCorresponds to variant rs2241671dbSNPEnsembl.1
Natural variantiVAR_048789537I → T.1 PublicationCorresponds to variant rs2808770dbSNPEnsembl.1
Natural variantiVAR_048790611I → F.1 PublicationCorresponds to variant rs2567705dbSNPEnsembl.1
Natural variantiVAR_072564697G → R in STLS. 1 PublicationCorresponds to variant rs140950220dbSNPEnsembl.1
Natural variantiVAR_048791720P → R.Corresponds to variant rs35446342dbSNPEnsembl.1
Natural variantiVAR_0487921116P → Q.Corresponds to variant rs7048607dbSNPEnsembl.1
Natural variantiVAR_0487931348R → Q.Corresponds to variant rs1631319dbSNPEnsembl.1
Natural variantiVAR_0487941354R → Q.Corresponds to variant rs10982134dbSNPEnsembl.1
Natural variantiVAR_0487951808M → V.Corresponds to variant rs3736252dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0303471 – 1033Missing in isoform 2. 1 PublicationAdd BLAST1033
Alternative sequenceiVSP_030348637 – 703GPPGL…SGNPG → VRLSGVCMLLGAPVGDWGIG QVVAPSKDRKRSSLEQGAGY GYILGSSQAPGSSGSAKCII AHPAPDS in isoform 3. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_030349704 – 1860Missing in isoform 3. 1 PublicationAdd BLAST1157

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY149237 mRNA. Translation: AAN41263.1.
AB058773 mRNA. Translation: BAB47499.1. Different initiation.
AL445543, AL356796 Genomic DNA. Translation: CAI14772.1.
AL356796, AL445543 Genomic DNA. Translation: CAI16857.1.
BC080610 mRNA. Translation: AAH80610.1.
CCDSiCCDS6802.1. [Q8IZC6-1]
RefSeqiNP_116277.2. NM_032888.3. [Q8IZC6-1]
UniGeneiHs.494892.
Hs.593318.

Genome annotation databases

EnsembliENST00000356083; ENSP00000348385; ENSG00000196739. [Q8IZC6-1]
GeneIDi85301.
KEGGihsa:85301.
UCSCiuc011lxl.3. human. [Q8IZC6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY149237 mRNA. Translation: AAN41263.1.
AB058773 mRNA. Translation: BAB47499.1. Different initiation.
AL445543, AL356796 Genomic DNA. Translation: CAI14772.1.
AL356796, AL445543 Genomic DNA. Translation: CAI16857.1.
BC080610 mRNA. Translation: AAH80610.1.
CCDSiCCDS6802.1. [Q8IZC6-1]
RefSeqiNP_116277.2. NM_032888.3. [Q8IZC6-1]
UniGeneiHs.494892.
Hs.593318.

3D structure databases

ProteinModelPortaliQ8IZC6.
SMRiQ8IZC6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124464. 1 interactor.
IntActiQ8IZC6. 1 interactor.
MINTiMINT-7970406.
STRINGi9606.ENSP00000348385.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiQ8IZC6.
PhosphoSitePlusiQ8IZC6.

Polymorphism and mutation databases

BioMutaiCOL27A1.
DMDMi74762504.

Proteomic databases

PaxDbiQ8IZC6.
PeptideAtlasiQ8IZC6.
PRIDEiQ8IZC6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356083; ENSP00000348385; ENSG00000196739. [Q8IZC6-1]
GeneIDi85301.
KEGGihsa:85301.
UCSCiuc011lxl.3. human. [Q8IZC6-1]

Organism-specific databases

CTDi85301.
DisGeNETi85301.
GeneCardsiCOL27A1.
HGNCiHGNC:22986. COL27A1.
HPAiHPA021884.
HPA048471.
MalaCardsiCOL27A1.
MIMi608461. gene.
615155. phenotype.
neXtProtiNX_Q8IZC6.
OpenTargetsiENSG00000196739.
PharmGKBiPA134990818.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085654.
HOVERGENiHBG098141.
InParanoidiQ8IZC6.
KOiK19721.
OMAiTWMDTSG.
OrthoDBiEOG091G00WS.
PhylomeDBiQ8IZC6.
TreeFamiTF344135.

Enzyme and pathway databases

BioCyciZFISH:G66-33651-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-8874081. MET activates PTK2 signaling.

Miscellaneous databases

ChiTaRSiCOL27A1. human.
GeneWikiiCollagen,_type_XXVII,_alpha_1.
GenomeRNAii85301.
PROiQ8IZC6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196739.
CleanExiHS_COL27A1.
ExpressionAtlasiQ8IZC6. baseline and differential.
GenevisibleiQ8IZC6. HS.

Family and domain databases

InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 13 hits.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCORA1_HUMAN
AccessioniPrimary (citable) accession number: Q8IZC6
Secondary accession number(s): Q66K43, Q96JF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 133 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.