Q5TAT6 (CODA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 76.
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(XIII) chain Alternative name(s): COLXIIIA1 | ||
| 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 | 717 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. Ref.10 Ref.11 UniProtKB Q9R1N9 |
| Subunit structure | Homotrimer; disulfide-linked. Nucleation of the type XIII collagen triple helix is likely to occur at the N-terminal region with triple helix formation proceeding from the N- to the C-terminus. Interacts with FN1, perlecan/HSPG2 and NID2. Ref.1 Ref.10 Ref.11 |
| Subcellular location | Cell membrane; Single-pass type II membrane protein Ref.1 UniProtKB Q9R1N9. |
| Tissue specificity | Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid stromal cells of the placental villi, to endothelial cells of developing capillaries and to cells of the cytotrophoblastic columns. Also detected in large decidual cells of the decidual membrane and to stromal cells of the gestational endometrium, but not in the epithelial cells in the endometrial glands. Ref.9 Ref.10 |
| Sequence caution | The sequence AAA51685.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 10 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 Ref.1 (identifier: Q5TAT6-1) 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 Ref.2 (identifier: Q5TAT6-2) The sequence of this isoform differs from the canonical sequence as follows: 239-260: Missing. | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 3 Ref.2 (identifier: Q5TAT6-3) The sequence of this isoform differs from the canonical sequence as follows: 239-260: Missing. 617-628: Missing. | ||||||
| Note: Gene prediction based on EST data. | ||||||
| Isoform 4 Ref.4 (identifier: Q5TAT6-4) The sequence of this isoform differs from the canonical sequence as follows: 239-260: Missing. 551-565: Missing. 617-628: Missing. | ||||||
| Isoform 5 Ref.5 (identifier: Q5TAT6-5) The sequence of this isoform differs from the canonical sequence as follows: 551-565: Missing. | ||||||
| Isoform 6 Ref.6 (identifier: Q5TAT6-6) The sequence of this isoform differs from the canonical sequence as follows: 566-579: Missing. | ||||||
| Isoform 7 Ref.6 (identifier: Q5TAT6-7) The sequence of this isoform differs from the canonical sequence as follows: 566-579: Missing. 617-628: Missing. | ||||||
| Isoform 8 Ref.4 (identifier: Q5TAT6-8) The sequence of this isoform differs from the canonical sequence as follows: 220-238: Missing. 617-628: Missing. | ||||||
| Isoform 9 Ref.4 (identifier: Q5TAT6-9) The sequence of this isoform differs from the canonical sequence as follows: 239-260: Missing. 551-565: Missing. 617-628: Missing. 676-705: Missing. | ||||||
| Isoform 10 (identifier: Q5TAT6-10) The sequence of this isoform differs from the canonical sequence as follows: 122-159: Missing. 220-238: Missing. 551-565: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 717 | 717 | Collagen alpha-1(XIII) chain | PRO_0000284679 | |||||
Regions | |||||||||
| Topological domain | 1 – 44 | 44 | Cytoplasmic Potential | ||||||
| Transmembrane | 45 – 61 | 17 | Helical; Signal-anchor for type II membrane protein; Potential | ||||||
| Topological domain | 62 – 717 | 656 | Extracellular Potential | ||||||
| Region | 1 – 121 | 121 | Nonhelical region 1 (NC1) | ||||||
| Region | 122 – 216 | 95 | Triple-helical region 1 (COL1) | ||||||
| Region | 217 – 269 | 53 | Nonhelical region 2 (NC2) | ||||||
| Region | 270 – 441 | 172 | Triple-helical region 2 (COL2) | ||||||
| Region | 442 – 463 | 22 | Nonhelical region 3 (NC3) | ||||||
| Region | 464 – 699 | 236 | Triple-helical region 3 (COL3) | ||||||
| Region | 700 – 717 | 18 | Nonhelical region 4 (NC4) | ||||||
Natural variations | |||||||||
| Alternative sequence | 122 – 159 | 38 | Missing in isoform 10. | VSP_043361 | |||||
| Alternative sequence | 220 – 238 | 19 | Missing in isoform 8 and isoform 10. Ref.4 | VSP_052382 | |||||
| Alternative sequence | 239 – 260 | 22 | Missing in isoform 2, isoform 3, isoform 4 and isoform 9. Ref.2 Ref.4 Ref.5 | VSP_052383 | |||||
| Alternative sequence | 551 – 565 | 15 | Missing in isoform 4, isoform 5, isoform 9 and isoform 10. Ref.4 Ref.5 | VSP_052384 | |||||
| Alternative sequence | 566 – 579 | 14 | Missing in isoform 6 and isoform 7. Ref.6 | VSP_052385 | |||||
| Alternative sequence | 617 – 628 | 12 | Missing in isoform 3, isoform 4, isoform 7, isoform 8 and isoform 9. Ref.2 Ref.4 Ref.6 | VSP_052386 | |||||
| Alternative sequence | 676 – 705 | 30 | Missing in isoform 9. Ref.4 | VSP_052387 | |||||
| Natural variant | 531 | 1 | H → Q. Corresponds to variant rs1061954 [ dbSNP | Ensembl ]. | VAR_055670 | |||||
Experimental info | |||||||||
| Sequence conflict | 182 | 1 | K → F in AAA51685. Ref.4 | ||||||
| Sequence conflict | 394 | 1 | G → A in CAC00688. Ref.1 | ||||||
| Sequence conflict | 394 | 1 | G → A in AAA51685. Ref.4 | ||||||
| Sequence conflict | 466 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 466 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 469 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 469 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 475 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 475 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 478 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 478 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 480 – 481 | 2 | IP → ML in AAA51685. Ref.4 | ||||||
| Sequence conflict | 480 – 481 | 2 | IP → ML in AAA52047. Ref.5 | ||||||
| Sequence conflict | 490 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 490 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 493 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 493 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 498 | 1 | Missing in AAA51685. Ref.4 | ||||||
| Sequence conflict | 498 | 1 | Missing in AAA52047. Ref.5 | ||||||
| Sequence conflict | 505 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 505 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 511 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 511 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 517 | 1 | P → L in AAA51685. Ref.4 | ||||||
| Sequence conflict | 517 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 570 | 1 | P → L in AAA52047. Ref.5 | ||||||
| Sequence conflict | 570 | 1 | P → L in AAA51987. Ref.6 | ||||||
| Sequence conflict | 570 | 1 | P → L in AAA51990. Ref.6 | ||||||
| Sequence conflict | 570 | 1 | P → L in AAA51991. Ref.6 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA52047. Ref.5 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA52048. Ref.5 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA51987. Ref.6 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA51988. Ref.6 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA51989. Ref.6 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA51990. Ref.6 | ||||||
| Sequence conflict | 706 | 1 | E → Q in AAA51991. Ref.6 | ||||||
| Sequence conflict | 709 | 1 | L → Y in AAA51987. Ref.6 | ||||||
| Sequence conflict | 709 | 1 | L → Y in AAA51988. Ref.6 | ||||||
| Sequence conflict | 709 | 1 | L → Y in AAA51989. Ref.6 | ||||||
| Sequence conflict | 709 | 1 | L → Y in AAA51990. Ref.6 | ||||||
| Sequence conflict | 709 | 1 | L → Y in AAA51991. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins." Snellman A., Tu H., Vaisanen T., Kvist A.-P., Huhtala P., Pihlajaniemi T. EMBO J. 19:5051-5059(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBUNIT, SUBCELLULAR LOCATION. |
| [2] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] (ISOFORM 10). Tissue: Testis. |
| [4] | "The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing." Pihlajaniemi T., Tamminen M. J. Biol. Chem. 265:16922-16928(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 44-717 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 84-717 (ISOFORMS 8 AND 9). Tissue: Endothelial cell. |
| [5] | "Partial characterization of a low molecular weight human collagen that undergoes alternative splicing." Pihlajaniemi T., Myllyla R., Seyer J., Kurkinen M., Prockop D.J. Proc. Natl. Acad. Sci. U.S.A. 84:940-944(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 457-717 (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 573-717 (ISOFORMS 3/4/7/8). Tissue: Fibrosarcoma. |
| [6] | "Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon." Tikka L., Pihlajaniemi T., Henttu P., Prockop D.J., Tryggvason K. Proc. Natl. Acad. Sci. U.S.A. 85:7491-7495(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 551-717 (ISOFORMS 6 AND 7), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 551-717 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 566-771 (ISOFORMS 3/4/8). |
| [7] | "Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants." Juvonen M., Pihlajaniemi T. J. Biol. Chem. 267:24693-24699(1992) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING. |
| [8] | "Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines." Juvonen M., Sandberg M., Pihlajaniemi T. J. Biol. Chem. 267:24700-24707(1992) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING. |
| [9] | "Location and alternative splicing of type XIII collagen RNA in the early human placenta." Juvonen M., Pihlajaniemi T., Autio-Harmainen H. Lab. Invest. 69:541-551(1993) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY. |
| [10] | "Type XIII collagen is widely expressed in the adult and developing human eye and accentuated in the ciliary muscle, the optic nerve and the neural retina." Sandberg-Lall M., Hagg P.O., Wahlstrom I., Pihlajaniemi T. Exp. Eye Res. 70:401-410(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [11] | "The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin." Tu H., Sasaki T., Snellman A., Gohring W., Pirila P., Timpl R., Pihlajaniemi T. J. Biol. Chem. 277:23092-23099(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH FN1; HSPG2 AND NID2, HEPARIN-BINDING. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ293624 mRNA. Translation: CAC00688.1. AL138925, AC024601, AC025426 Genomic DNA. Translation: CAI15450.1. AL138925, AC024601, AC025426 Genomic DNA. Translation: CAI15451.2. AL138925, AC024601, AC025426 Genomic DNA. Translation: CAI15452.1. BC136385 mRNA. Translation: AAI36386.1. M59217 mRNA. Translation: AAA51685.1. Different initiation. M33653 mRNA. Translation: AAA52047.1. M15524 mRNA. Translation: AAA52048.1. M20803 M20805 Genomic DNA. Translation: AAA51987.1.M20803 M20804 Genomic DNA. Translation: AAA51988.1.M20803 M20804 Genomic DNA. Translation: AAA51989.1.M20803 M20805 Genomic DNA. Translation: AAA51990.1.M20803 M20805 Genomic DNA. Translation: AAA51991.1. |
| IPI | IPI00299472. IPI00375408. IPI00375412. IPI00375413. IPI00375414. IPI00375417. IPI00377036. IPI00383356. IPI00844070. IPI01008962. |
| PIR | B40983. |
| RefSeq | NP_001123575.1. NM_001130103.1. NP_542988.3. NM_080798.3. NP_542990.3. NM_080800.3. NP_542991.3. NM_080801.3. NP_542992.3. NM_080802.3. |
| UniGene | Hs.695934. |
3D structure databases | |
| ProteinModelPortal | Q5TAT6. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q5TAT6. |
Polymorphism databases | |
| DMDM | 74745860. |
Proteomic databases | |
| PaxDb | Q5TAT6. |
| PRIDE | Q5TAT6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000354547; ENSP00000346553; ENSG00000197467. ENST00000357811; ENSP00000350463; ENSG00000197467. ENST00000398978; ENSP00000381949; ENSG00000197467. ENST00000517713; ENSP00000430061; ENSG00000197467. ENST00000520267; ENSP00000428057; ENSG00000197467. ENST00000522165; ENSP00000428342; ENSG00000197467. |
| GeneID | 1305. |
| KEGG | hsa:1305. |
| UCSC | uc001jqk.2. human. uc001jql.3. human. uc021prz.1. human. uc021psc.1. human. |
Organism-specific databases | |
| CTD | 1305. |
| GeneCards | GC10P071561. |
| H-InvDB | HIX0025928. |
| HGNC | HGNC:2190. COL13A1. |
| HPA | HPA050392. |
| MIM | 120350. gene. |
| neXtProt | NX_Q5TAT6. |
| PharmGKB | PA26706. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG254293. |
| HOGENOM | HOG000085653. |
| HOVERGEN | HBG004933. |
| KO | K16617. |
| OMA | TSPGCHC. |
| OrthoDB | EOG4894NC. |
Enzyme and pathway databases | |
| Reactome | REACT_118779. Extracellular matrix organization. |
Gene expression databases | |
| ArrayExpress | Q5TAT6. |
| Bgee | Q5TAT6. |
| Genevestigator | Q5TAT6. |
Family and domain databases | |
| InterPro | IPR008160. Collagen. [Graphical view] |
| Pfam | PF01391. Collagen. 10 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB01076. Atorvastatin. DB00641. Simvastatin. |
| GenomeRNAi | 1305. |
| NextBio | 5305. |
| SOURCE | Search... |
Entry information
| Entry name | CODA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5TAT6 Secondary accession number(s): A6NFR5 Q9NQ52 | ||||||||
| 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 10 Human chromosome 10: 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 |

Clusters with
