Collagen, type XIX, alpha 1

COL19A1
Identifiers
Aliases	COL19A1 , COL9A1L, D6S228E, collagen type XIX alpha 1, collagen type XIX alpha 1 chain
External IDs	OMIM: 120165 MGI: 1095415 HomoloGene: 55608 GeneCards: COL19A1
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q13 Start 69,866,556 bp [1] End 70,212,468 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 A5 Start 24,300,971 bp [2] End 24,626,553 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa endothelial cell cerebellar vermis tibialis anterior muscle lymph node popliteal artery Brodmann area 23 middle temporal gyrus urinary bladder appendix Top expressed in primary motor cortex rib mammillary body lateral part of occipital bone membranous bone entorhinal cortex sphenoid bone nasal septum lesser wing of sphenoid bone urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component endoplasmic reticulum lumen collagen extracellular region extracellular matrix extracellular space collagen-containing extracellular matrix Biological process collagen catabolic process multicellular organism development skeletal system development cell differentiation muscle organ development skeletal muscle tissue development extracellular matrix organization cell adhesion cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1310 12823 Ensembl ENSG00000082293 ENSMUSG00000026141 UniProt Q14993 Q0VF58 RefSeq (mRNA) NM_001858 NM_007733 RefSeq (protein) NP_001849 NP_031759 Location (UCSC) Chr 6: 69.87 – 70.21 Mb Chr 1: 24.3 – 24.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(XIX) chain is a protein that in humans is encoded by the COL19A1 gene. ^{[5] [6] [7]}

This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000082293 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026141 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Myers JC, Sun MJ, D'Ippolito JA, Jabs EW, Neilson EG, Dion AS (Mar 1993). "Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain". Gene. 123 (2): 211–7. doi:10.1016/0378-1119(93)90126-N. PMID   7916703.
6. Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson RE (Jul 1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics. 41 (2): 236–42. doi:10.1006/geno.1997.4638. PMID   9143499.
7. "Entrez Gene: COL19A1 collagen, type XIX, alpha 1".

Further reading

• Yoshioka H, Zhang H, Ramirez F, et al. (1992). "Synteny between the loci for a novel FACIT-like collagen locus (D6S228E) and alpha 1 (IX) collagen (COL9A1) on 6q12-q14 in humans". Genomics. 13 (3): 884–6. doi:10.1016/0888-7543(92)90176-S. PMID   1639419.
• Inoguchi K, Yoshioka H, Khaleduzzaman M, Ninomiya Y (1995). "The mRNA for alpha 1(XIX) collagen chain, a new member of FACITs, contains a long unusual 3' untranslated region and displays many unique splicing variants". J. Biochem. 117 (1): 137–46. doi:10.1093/oxfordjournals.jbchem.a124700. PMID   7775380.
• Myers JC, Yang H, D'Ippolito JA, et al. (1994). "The triple-helical region of human type XIX collagen consists of multiple collagenous subdomains and exhibits limited sequence homology to alpha 1(XVI)". J. Biol. Chem. 269 (28): 18549–57. doi: 10.1016/S0021-9258(17)32344-X . PMID   8034603.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Sumiyoshi H, Inoguchi K, Khaleduzzaman M, et al. (1997). "Ubiquitous expression of the alpha1(XIX) collagen gene (Col19a1) during mouse embryogenesis becomes restricted to a few tissues in the adult organism". J. Biol. Chem. 272 (27): 17104–11. doi: 10.1074/jbc.272.27.17104 . PMID   9202028.
• Khaleduzzaman M, Sumiyoshi H, Ueki Y, et al. (1998). "Structure of the human type XIX collagen (COL19A1) gene, which suggests it has arisen from an ancestor gene of the FACIT family". Genomics. 45 (2): 304–12. doi:10.1006/geno.1997.4921. PMID   9344653.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Myers JC, Li D, Amenta PS, et al. (2003). "Type XIX collagen purified from human umbilical cord is characterized by multiple sharp kinks delineating collagenous subdomains and by intermolecular aggregates via globular, disulfide-linked, and heparin-binding amino termini". J. Biol. Chem. 278 (34): 32047–57. doi: 10.1074/jbc.M304629200 . PMID   12788917.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi: 10.1038/nature02055 . PMID   14574404.
• Käpylä J, Jäälinoja J, Tulla M, et al. (2005). "The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix". J. Biol. Chem. 279 (49): 51677–87. doi: 10.1074/jbc.M409412200 . PMID   15383545.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.