Q17RW2 (COOA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 67.
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(XXIV) chain | ||
| Gene names |
| ||
| 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 | 1714 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 | May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development. Ref.1 |
| Subcellular location | Secreted › extracellular space › extracellular matrix By similarity. |
| Sequence similarities | Belongs to the fibrillar collagen family. Contains 17 collagen-like domains. Contains 1 fibrillar collagen NC1 domain. Contains 1 laminin G-like domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Extracellular matrix Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Collagen Repeat Signal |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | extracellular matrix organization Traceable author statement. Source: Reactome |
| Cellular_component | collagen Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum lumenTraceable author statement. Source: Reactome extracellular regionTraceable author statement. Source: Reactome |
| Molecular_function | extracellular matrix structural constituent Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q17RW2-1) 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: Q17RW2-2) The sequence of this isoform differs from the canonical sequence as follows: 1459-1479: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 35 | 35 | Potential | ||||||
| Chain | 36 – 1714 | 1679 | Collagen alpha-1(XXIV) chain | PRO_0000317616 | |||||
Regions | |||||||||
| Domain | 141 – 217 | 77 | Laminin G-like | ||||||
| Domain | 487 – 542 | 56 | Collagen-like 1 | ||||||
| Domain | 552 – 611 | 60 | Collagen-like 2 | ||||||
| Domain | 660 – 719 | 60 | Collagen-like 3 | ||||||
| Domain | 741 – 797 | 57 | Collagen-like 4 | ||||||
| Domain | 798 – 857 | 60 | Collagen-like 5 | ||||||
| Domain | 858 – 887 | 30 | Collagen-like 6 | ||||||
| Domain | 888 – 947 | 60 | Collagen-like 7 | ||||||
| Domain | 948 – 1007 | 60 | Collagen-like 8 | ||||||
| Domain | 1011 – 1052 | 42 | Collagen-like 9 | ||||||
| Domain | 1053 – 1112 | 60 | Collagen-like 10 | ||||||
| Domain | 1116 – 1170 | 55 | Collagen-like 11 | ||||||
| Domain | 1172 – 1196 | 25 | Collagen-like 12 | ||||||
| Domain | 1201 – 1249 | 49 | Collagen-like 13 | ||||||
| Domain | 1252 – 1306 | 55 | Collagen-like 14 | ||||||
| Domain | 1309 – 1353 | 45 | Collagen-like 15 | ||||||
| Domain | 1354 – 1413 | 60 | Collagen-like 16 | ||||||
| Domain | 1420 – 1479 | 60 | Collagen-like 17 | ||||||
| Domain | 1515 – 1714 | 200 | Fibrillar collagen NC1 | ||||||
| Compositional bias | 470 – 475 | 6 | Poly-Tyr | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 155 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 321 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 376 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1459 – 1479 | 21 | Missing in isoform 2. | VSP_031090 | |||||
| Natural variant | 61 | 1 | A → V. Ref.1 Ref.4 Corresponds to variant rs11161747 [ dbSNP | Ensembl ]. | VAR_062865 | |||||
| Natural variant | 151 | 1 | P → L. Corresponds to variant rs1027819 [ dbSNP | Ensembl ]. | VAR_055672 | |||||
| Natural variant | 293 | 1 | I → T. Corresponds to variant rs17128866 [ dbSNP | Ensembl ]. | VAR_055673 | |||||
| Natural variant | 481 | 1 | M → L. Corresponds to variant rs10493784 [ dbSNP | Ensembl ]. | VAR_055674 | |||||
| Natural variant | 546 | 1 | P → S. Ref.1 Corresponds to variant rs11161732 [ dbSNP | Ensembl ]. | VAR_055675 | |||||
| Natural variant | 641 | 1 | R → H. Corresponds to variant rs60891279 [ dbSNP | Ensembl ]. | VAR_061116 | |||||
| Natural variant | 731 | 1 | P → S. Ref.1 Corresponds to variant rs641712 [ dbSNP | Ensembl ]. | VAR_055676 | |||||
| Natural variant | 1423 | 1 | G → R. Corresponds to variant rs7520146 [ dbSNP | Ensembl ]. | VAR_038565 | |||||
Experimental info | |||||||||
| Sequence conflict | 828 – 849 | 22 | GYAGE…QGNIG → ITVFATLYSFLTGRSRRSRK YW in BAD92923. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone." Koch M., Laub F., Zhou P., Hahn R.A., Tanaka S., Burgeson R.E., Gerecke D.R., Ramirez F., Gordon M.K. J. Biol. Chem. 278:43236-43244(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS VAL-61; SER-546 AND SER-731. Tissue: Cartilage. |
| [2] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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] (ISOFORM 1), VARIANT VAL-61. |
| [5] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 827-1714 (ISOFORM 2). Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY244357 mRNA. Translation: AAP80185.1. AL356059 AL445427 Genomic DNA. Translation: CAH71121.1.AL359971 AL445427 Genomic DNA. Translation: CAI16233.1.AL445427 AL359971 Genomic DNA. Translation: CAI19120.1.CH471097 Genomic DNA. Translation: EAW73193.1. BC113654 mRNA. Translation: AAI13655.1. BC117170 mRNA. Translation: AAI17171.1. AB209686 mRNA. Translation: BAD92923.1. |
| IPI | IPI00168920. IPI00878900. |
| RefSeq | NP_690850.2. NM_152890.5. |
| UniGene | Hs.659516. |
3D structure databases | |
| ProteinModelPortal | Q17RW2. |
| SMR | Q17RW2. Positions 1533-1714. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000359603. |
PTM databases | |
| PhosphoSite | Q17RW2. |
Polymorphism databases | |
| DMDM | 290457636. |
Proteomic databases | |
| PaxDb | Q17RW2. |
| PRIDE | Q17RW2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000370571; ENSP00000359603; ENSG00000171502. ENST00000436319; ENSP00000392531; ENSG00000171502. |
| GeneID | 255631. |
| KEGG | hsa:255631. |
| UCSC | uc001dlj.3. human. |
Organism-specific databases | |
| CTD | 255631. |
| GeneCards | GC01M086194. |
| H-InvDB | HIX0018170. |
| HGNC | HGNC:20821. COL24A1. |
| HPA | HPA038423. |
| MIM | 610025. gene. |
| neXtProt | NX_Q17RW2. |
| PharmGKB | PA134932695. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOGENOM | HOG000085654. |
| HOVERGEN | HBG098141. |
| InParanoid | Q17RW2. |
| KO | K06236. |
| OMA | FPGDFGD. |
| OrthoDB | EOG4WQ11P. |
| PhylomeDB | Q17RW2. |
Enzyme and pathway databases | |
| Reactome | REACT_118779. Extracellular matrix organization. |
Gene expression databases | |
| ArrayExpress | Q17RW2. |
| Bgee | Q17RW2. |
| CleanEx | HS_COL24A1. |
| Genevestigator | Q17RW2. |
Family and domain databases | |
| Gene3D | 2.60.120.200. 1 hit. |
| InterPro | IPR008160. Collagen. IPR008985. ConA-like_lec_gl_sf. IPR013320. ConA-like_subgrp. IPR000885. Fib_collagen_C. IPR001791. Laminin_G. [Graphical view] |
| Pfam | PF01410. COLFI. 2 hits. PF01391. Collagen. 14 hits. PF02210. Laminin_G_2. 1 hit. [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 | 255631. |
| NextBio | 92614. |
| SOURCE | Search... |
Entry information
| Entry name | COOA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q17RW2 Secondary accession number(s): C9J1X6 Q7Z5L5 | ||||||||
| 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 1 Human chromosome 1: 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
