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Q8IZC6 (CORA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Collagen alpha-1(XXVII) chain
Gene names
Name:COL27A1
Synonyms:KIAA1870
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1860 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Plays a role during the calcification of cartilage and the transition of cartilage to bone. Ref.5

Subcellular location

Secretedextracellular spaceextracellular matrix. Note: Found on some small banded collagen fibrils and meshworks By similarity.

Developmental stage

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. Ref.5

Domain

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.

Sequence similarities

Belongs to the fibrillar collagen family.

Contains 16 collagen-like domains.

Contains 1 fibrillar collagen NC1 domain.

Contains 1 laminin G-like domain.

Sequence caution

The sequence BAB47499.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZC6-1)

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.
Isoform 2 (identifier: Q8IZC6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1033: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8IZC6-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4141 Potential
Propeptide42 – 624583N-terminal propeptide
PRO_0000314667
Chain625 – 1621997Collagen alpha-1(XXVII) chain
PRO_5000089163
Propeptide1622 – 1860239C-terminal propeptide
PRO_0000314668

Regions

Domain71 – 236166Laminin G-like
Domain625 – 67955Collagen-like 1
Domain688 – 74760Collagen-like 2
Domain748 – 80760Collagen-like 3
Domain808 – 86760Collagen-like 4
Domain871 – 93060Collagen-like 5
Domain931 – 99060Collagen-like 6
Domain1003 – 106260Collagen-like 7
Domain1066 – 112560Collagen-like 8
Domain1126 – 118560Collagen-like 9
Domain1192 – 125160Collagen-like 10
Domain1258 – 131760Collagen-like 11
Domain1318 – 137861Collagen-like 12
Domain1382 – 144160Collagen-like 13
Domain1442 – 150160Collagen-like 14
Domain1502 – 156160Collagen-like 15
Domain1562 – 162160Collagen-like 16
Domain1660 – 1860201Fibrillar collagen NC1
Region625 – 1618994Triple-helical region
Compositional bias283 – 16211339Pro-rich

Sites

Metal binding17081Calcium By similarity
Metal binding17101Calcium By similarity
Metal binding17131Calcium; via carbonyl oxygen By similarity
Metal binding17161Calcium By similarity

Amino acid modifications

Glycosylation2711N-linked (GlcNAc...) Potential
Glycosylation17691N-linked (GlcNAc...) Potential
Disulfide bond1690 ↔ 1722 By similarity
Disulfide bond1696Interchain (with C-1285) By similarity
Disulfide bond1713Interchain (with C-1268) By similarity
Disulfide bond1731 ↔ 1858 By similarity
Disulfide bond1767 ↔ 1811 By similarity

Natural variations

Alternative sequence1 – 10331033Missing in isoform 2.
VSP_030347
Alternative sequence637 – 70367GPPGL…SGNPG → VRLSGVCMLLGAPVGDWGIG QVVAPSKDRKRSSLEQGAGY GYILGSSQAPGSSGSAKCII AHPAPDS in isoform 3.
VSP_030348
Alternative sequence704 – 18601157Missing in isoform 3.
VSP_030349
Natural variant891V → I.
Corresponds to variant rs2567707 [ dbSNP | Ensembl ].
VAR_048784
Natural variant1201Q → R.
Corresponds to variant rs2567706 [ dbSNP | Ensembl ].
VAR_048785
Natural variant2651A → T.
Corresponds to variant rs34578955 [ dbSNP | Ensembl ].
VAR_048786
Natural variant3491R → C.
Corresponds to variant rs34973417 [ dbSNP | Ensembl ].
VAR_048787
Natural variant4221A → T. Ref.4
Corresponds to variant rs2241671 [ dbSNP | Ensembl ].
VAR_048788
Natural variant5371I → T. Ref.4
Corresponds to variant rs2808770 [ dbSNP | Ensembl ].
VAR_048789
Natural variant6111I → F. Ref.4
Corresponds to variant rs2567705 [ dbSNP | Ensembl ].
VAR_048790
Natural variant7201P → R.
Corresponds to variant rs35446342 [ dbSNP | Ensembl ].
VAR_048791
Natural variant11161P → Q.
Corresponds to variant rs7048607 [ dbSNP | Ensembl ].
VAR_048792
Natural variant13481R → Q.
Corresponds to variant rs1631319 [ dbSNP | Ensembl ].
VAR_048793
Natural variant13541R → Q.
Corresponds to variant rs10982134 [ dbSNP | Ensembl ].
VAR_048794
Natural variant18081M → V.
Corresponds to variant rs3736252 [ dbSNP | Ensembl ].
VAR_048795

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 5F8CDFAF4B6014EC

FASTA1,860186,892
        10         20         30         40         50         60 
MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ RLGLSWTKAG 

        70         80         90        100        110        120 
SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL VLSLCSHRVN HAFLFAVRSQ 

       130        140        150        160        170        180 
KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD MHDGRWHHLA LELRGRTVTL VTACGQRRVP 

       190        200        210        220        230        240 
VLLPFHRDPA LDPGGSFLFG KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD 

       250        260        270        280        290        300 
TYQSPLGPLF SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP 

       310        320        330        340        350        360 
QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP AAAQPSQKIT 

       370        380        390        400        410        420 
ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA LPTQKQVPPT SRPVPARVSR 

       430        440        450        460        470        480 
PAEKPIQRNP GMPRPPPPST RPLPPTTSSS KKPIPTLART EAKITSHASK PASARTSTHK 

       490        500        510        520        530        540 
PPPFTALSSS PAPTPGSTRS TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPIGSE 

       550        560        570        580        590        600 
ASKKAGPKSS PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS 

       610        620        630        640        650        660 
SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA RGPRGPPGPY 

       670        680        690        700        710        720 
GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG NPGPPGRKGH KGYPGPAGHP 

       730        740        750        760        770        780 
GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP GPKGSRGYIG LPGLFGLPGS DGERGLPGVP 

       790        800        810        820        830        840 
GKRGKMGMPG FPGVFGERGP PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK 

       850        860        870        880        890        900 
GLMGSVGEPG LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI 

       910        920        930        940        950        960 
GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP MGPPGAPGLE 

       970        980        990       1000       1010       1020 
GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG LVGEPGIVGE KGDRGMMGPP 

      1030       1040       1050       1060       1070       1080 
GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR 

      1090       1100       1110       1120       1130       1140 
GLKGPPGPQG RPGRPGQQGV AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI 

      1150       1160       1170       1180       1190       1200 
GPPGEMGPKG PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD 

      1210       1220       1230       1240       1250       1260 
GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE KGRTGAKGAK 

      1270       1280       1290       1300       1310       1320 
GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG AQGEPGLAGY DGHKGIVGPL 

      1330       1340       1350       1360       1370       1380 
GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ 

      1390       1400       1410       1420       1430       1440 
QGQPGHPGPR GWPGPKGSKG AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI 

      1450       1460       1470       1480       1490       1500 
AGPDGLPGRD GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ 

      1510       1520       1530       1540       1550       1560 
LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG DIGFKGIQGP 

      1570       1580       1590       1600       1610       1620 
RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ GPRGPPGPRG RPGPPGPPGG 

      1630       1640       1650       1660       1670       1680 
PIQLQQDDLG AAFQTWMDTS GALRPESYSY PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL 

      1690       1700       1710       1720       1730       1740 
GTKENPARVC RDLMDCEQKM VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV 

      1750       1760       1770       1780       1790       1800 
EFAISRVQMN FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG 

      1810       1820       1830       1840       1850       1860 
QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY RLEVGPACFL 

« Hide

Isoform 2 [UniParc].

Checksum: 3941B3A8696704BB
Show »

FASTA82782,801
Isoform 3 [UniParc].

Checksum: 9D3751FE90AE9E0D
Show »

FASTA70373,105

References

« Hide 'large scale' references
[1]"Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1."
Pace J.M., Corrado M., Missero C., Byers P.H.
Matrix Biol. 22:3-14(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Cartilage.
[2]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 238-1860 (ISOFORM 3), VARIANTS THR-422; THR-537 AND PHE-611.
Tissue: Skin.
[5]"Type XXVII collagen at the transition of cartilage to bone during skeletogenesis."
Hjorten R., Hansen U., Underwood R.A., Telfer H.E., Fernandes R.J., Krakow D., Sebald E., Wachsmann-Hogiu S., Bruckner P., Jacquet R., Landis W.J., Byers P.H., Pace J.M.
Bone 41:535-542(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DEVELOPMENTAL STAGE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6802.1. [Q8IZC6-1]
RefSeqNP_116277.2. NM_032888.2. [Q8IZC6-1]
UniGeneHs.494892.

3D structure databases

ProteinModelPortalQ8IZC6.
SMRQ8IZC6. Positions 1678-1860.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124464. 1 interaction.
IntActQ8IZC6. 1 interaction.
MINTMINT-7970406.
STRING9606.ENSP00000348385.

Chemistry

ChEMBLCHEMBL2364188.

PTM databases

PhosphoSiteQ8IZC6.

Polymorphism databases

DMDM74762504.

Proteomic databases

PaxDbQ8IZC6.
PRIDEQ8IZC6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356083; ENSP00000348385; ENSG00000196739. [Q8IZC6-1]
GeneID85301.
KEGGhsa:85301.
UCSCuc011lxl.2. human. [Q8IZC6-1]

Organism-specific databases

CTD85301.
GeneCardsGC09P116917.
HGNCHGNC:22986. COL27A1.
HPAHPA021884.
HPA048471.
MIM608461. gene.
neXtProtNX_Q8IZC6.
PharmGKBPA134990818.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000085654.
HOVERGENHBG098141.
KOK06236.
OMAYSYPDRL.
OrthoDBEOG7Q5HCC.
PhylomeDBQ8IZC6.
TreeFamTF344135.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ8IZC6.
BgeeQ8IZC6.
CleanExHS_COL27A1.
GenevestigatorQ8IZC6.

Family and domain databases

InterProIPR008160. Collagen.
IPR008985. ConA-like_lec_gl_sf.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamPF01410. COLFI. 2 hits.
PF01391. Collagen. 13 hits.
[Graphical view]
ProDomPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
PROSITEPS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCollagen,_type_XXVII,_alpha_1.
GenomeRNAi85301.
NextBio75783.
PROQ8IZC6.
SOURCESearch...

Entry information

Entry nameCORA1_HUMAN
AccessionPrimary (citable) accession number: Q8IZC6
Secondary accession number(s): Q66K43, Q96JF7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 108 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM