Q8IZC6 (CORA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Collagen alpha-1(XXVII) chain | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1860 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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 | Secreted › extracellular space › extracellular 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. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Extracellular matrix Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Collagen Repeat Signal |
| Ligand | Calcium Metal-binding |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | extracellular matrix organization Traceable author statement. Source: Reactome |
| Cellular_component | endoplasmic reticulum lumen Traceable author statement. Source: Reactome extracellular regionTraceable author statement. Source: Reactome fibrillar collagenInferred from electronic annotation. Source: Compara |
| Molecular_function | extracellular matrix structural constituent Inferred from electronic annotation. Source: InterPro metal ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 41 | 41 | Potential | ||||||||
| Propeptide | 42 – 624 | 583 | N-terminal propeptide | PRO_0000314667 | |||||||
| Chain | 625 – 1621 | 997 | Collagen alpha-1(XXVII) chain | PRO_5000089163 | |||||||
| Propeptide | 1622 – 1860 | 239 | C-terminal propeptide | PRO_0000314668 | |||||||
Regions | |||||||||||
| Domain | 71 – 236 | 166 | Laminin G-like | ||||||||
| Domain | 625 – 679 | 55 | Collagen-like 1 | ||||||||
| Domain | 688 – 747 | 60 | Collagen-like 2 | ||||||||
| Domain | 748 – 807 | 60 | Collagen-like 3 | ||||||||
| Domain | 808 – 867 | 60 | Collagen-like 4 | ||||||||
| Domain | 871 – 930 | 60 | Collagen-like 5 | ||||||||
| Domain | 931 – 990 | 60 | Collagen-like 6 | ||||||||
| Domain | 1003 – 1062 | 60 | Collagen-like 7 | ||||||||
| Domain | 1066 – 1125 | 60 | Collagen-like 8 | ||||||||
| Domain | 1126 – 1185 | 60 | Collagen-like 9 | ||||||||
| Domain | 1192 – 1251 | 60 | Collagen-like 10 | ||||||||
| Domain | 1258 – 1317 | 60 | Collagen-like 11 | ||||||||
| Domain | 1318 – 1378 | 61 | Collagen-like 12 | ||||||||
| Domain | 1382 – 1441 | 60 | Collagen-like 13 | ||||||||
| Domain | 1442 – 1501 | 60 | Collagen-like 14 | ||||||||
| Domain | 1502 – 1561 | 60 | Collagen-like 15 | ||||||||
| Domain | 1562 – 1621 | 60 | Collagen-like 16 | ||||||||
| Domain | 1660 – 1860 | 201 | Fibrillar collagen NC1 | ||||||||
| Region | 625 – 1618 | 994 | Triple-helical region | ||||||||
| Compositional bias | 283 – 1621 | 1339 | Pro-rich | ||||||||
Sites | |||||||||||
| Metal binding | 1708 | 1 | Calcium By similarity | ||||||||
| Metal binding | 1710 | 1 | Calcium By similarity | ||||||||
| Metal binding | 1713 | 1 | Calcium; via carbonyl oxygen By similarity | ||||||||
| Metal binding | 1716 | 1 | Calcium By similarity | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 271 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1769 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 1690 ↔ 1722 | By similarity | |||||||||
| Disulfide bond | 1696 | Interchain (with C-1285) By similarity | |||||||||
| Disulfide bond | 1713 | Interchain (with C-1268) By similarity | |||||||||
| Disulfide bond | 1731 ↔ 1858 | By similarity | |||||||||
| Disulfide bond | 1767 ↔ 1811 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 1033 | 1033 | Missing in isoform 2. | VSP_030347 | |||||||
| Alternative sequence | 637 – 703 | 67 | GPPGL…SGNPG → VRLSGVCMLLGAPVGDWGIG QVVAPSKDRKRSSLEQGAGY GYILGSSQAPGSSGSAKCII AHPAPDS in isoform 3. | VSP_030348 | |||||||
| Alternative sequence | 704 – 1860 | 1157 | Missing in isoform 3. | VSP_030349 | |||||||
| Natural variant | 89 | 1 | V → I. Corresponds to variant rs2567707 [ dbSNP | Ensembl ]. | VAR_048784 | |||||||
| Natural variant | 120 | 1 | Q → R. Corresponds to variant rs2567706 [ dbSNP | Ensembl ]. | VAR_048785 | |||||||
| Natural variant | 265 | 1 | A → T. Corresponds to variant rs34578955 [ dbSNP | Ensembl ]. | VAR_048786 | |||||||
| Natural variant | 349 | 1 | R → C. Corresponds to variant rs34973417 [ dbSNP | Ensembl ]. | VAR_048787 | |||||||
| Natural variant | 422 | 1 | A → T. Ref.4 Corresponds to variant rs2241671 [ dbSNP | Ensembl ]. | VAR_048788 | |||||||
| Natural variant | 537 | 1 | I → T. Ref.4 Corresponds to variant rs2808770 [ dbSNP | Ensembl ]. | VAR_048789 | |||||||
| Natural variant | 611 | 1 | I → F. Ref.4 Corresponds to variant rs2567705 [ dbSNP | Ensembl ]. | VAR_048790 | |||||||
| Natural variant | 720 | 1 | P → R. Corresponds to variant rs35446342 [ dbSNP | Ensembl ]. | VAR_048791 | |||||||
| Natural variant | 1116 | 1 | P → Q. Corresponds to variant rs7048607 [ dbSNP | Ensembl ]. | VAR_048792 | |||||||
| Natural variant | 1348 | 1 | R → Q. Corresponds to variant rs1631319 [ dbSNP | Ensembl ]. | VAR_048793 | |||||||
| Natural variant | 1354 | 1 | R → Q. Corresponds to variant rs10982134 [ dbSNP | Ensembl ]. | VAR_048794 | |||||||
| Natural variant | 1808 | 1 | M → V. Corresponds to variant rs3736252 [ dbSNP | Ensembl ]. | VAR_048795 | |||||||
Sequences
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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. 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. |
| IPI | IPI00844557. IPI00878670. IPI00878879. |
| RefSeq | NP_116277.2. NM_032888.2. |
| UniGene | Hs.494892. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1Q7D based on UniProtKB Q15201. |
| ProteinModelPortal | Q8IZC6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000348385. |
PTM databases | |
| PhosphoSite | Q8IZC6. |
Polymorphism databases | |
| DMDM | 74762504. |
Proteomic databases | |
| PaxDb | Q8IZC6. |
| PRIDE | Q8IZC6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000356083; ENSP00000348385; ENSG00000196739. |
| GeneID | 85301. |
| KEGG | hsa:85301. |
| UCSC | uc011lxl.2. human. |
Organism-specific databases | |
| CTD | 85301. |
| GeneCards | GC09P116917. |
| HGNC | HGNC:22986. COL27A1. |
| HPA | HPA021884. HPA048471. |
| MIM | 608461. gene. |
| neXtProt | NX_Q8IZC6. |
| PharmGKB | PA134990818. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOGENOM | HOG000085654. |
| HOVERGEN | HBG098141. |
| KO | K06236. |
| OrthoDB | EOG4FBHSB. |
| PhylomeDB | Q8IZC6. |
Enzyme and pathway databases | |
| Reactome | REACT_118779. Extracellular matrix organization. |
Gene expression databases | |
| ArrayExpress | Q8IZC6. |
| Bgee | Q8IZC6. |
| CleanEx | HS_COL27A1. |
| Genevestigator | Q8IZC6. |
Family and domain databases | |
| InterPro | IPR008160. Collagen. IPR008985. ConA-like_lec_gl_sf. IPR000885. Fib_collagen_C. IPR001791. Laminin_G. [Graphical view] |
| Pfam | PF01410. COLFI. 2 hits. PF01391. Collagen. 13 hits. [Graphical view] |
| ProDom | PD002078. Fib_collagen_C. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00038. COLFI. 1 hit. SM00210. TSPN. 1 hit. [Graphical view] |
| SUPFAM | SSF49899. ConA_like_lec_gl. 1 hit. |
| PROSITE | PS50025. LAM_G_DOMAIN. False negative. PS51461. NC1_FIB. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 85301. |
| NextBio | 75783. |
| SOURCE | Search... |
Entry information
| Entry name | CORA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZC6 Secondary accession number(s): Q66K43, Q96JF7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
