Collagen, type XIII, alpha 1

COL13A1
Identifiers
Aliases	COL13A1 , COLXIIIA1, CMS19, collagen type XIII alpha 1, collagen type XIII alpha 1 chain
External IDs	OMIM: 120350 MGI: 1277201 HomoloGene: 22421 GeneCards: COL13A1
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q22.1 Start 69,801,880 bp [1] End 69,964,275 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 32.29 cM|10 B4 Start 61,674,015 bp [2] End 61,814,887 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere periodontal fiber tibia corpus epididymis ascending aorta cerebellar vermis popliteal artery lower lobe of lung stromal cell of endometrium spongy bone Top expressed in Meckel's cartilage left lung lobe body of femur calvaria fossa right lung right lung lobe endocardial cushion vas deferens primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function heparin binding protein binding extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component integral component of membrane extracellular region plasma membrane collagen endoplasmic reticulum lumen membrane cell-cell junction collagen type XIII trimer synapse postsynaptic membrane cell junction extracellular space extracellular matrix collagen-containing extracellular matrix Biological process collagen catabolic process multicellular organism development cell differentiation cell-matrix adhesion extracellular matrix organization endochondral ossification cell adhesion ossification morphogenesis of a branching structure cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1305 12817 Ensembl ENSG00000197467 ENSMUSG00000058806 UniProt Q5TAT6 Q9R1N9 RefSeq (mRNA) NM_001130103 NM_005203 NM_080798 NM_080799 NM_080800 NM_080801 NM_080802 NM_080803 NM_080804 NM_080805 NM_080806 NM_080807 NM_080808 NM_080809 NM_080810 NM_080811 NM_080812 NM_080813 NM_080814 NM_080815 NM_001320951 NM_001368882 NM_001368883 NM_001368884 NM_001368885 NM_001368886 NM_001368895 NM_001368896 NM_001368897 NM_001368898 NM_007731 NM_001304757 RefSeq (protein) NP_001123575 NP_001307880 NP_542988 NP_542990 NP_542991 NP_542992 NP_542995 NP_001355811 NP_001355812 NP_001355813 NP_001355814 NP_001355815 NP_001355824 NP_001355825 NP_001355826 NP_001355827 NP_001291686 NP_031757 Location (UCSC) Chr 10: 69.8 – 69.96 Mb Chr 10: 61.67 – 61.81 Mb PubMed search [3] [4]
Wikidata
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Collagen alpha-1(XIII) chain is a protein that in humans is encoded by the COL13A1 gene. ^[5]

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. ^[5] Collagen XIII belongs to the transmembranous subfamily of collagens, like collagen XVII, XXIII and XXV.

References

1. GRCh38: Ensembl release 89: ENSG00000197467 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000058806 - 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. "Entrez Gene: COL13A1 collagen, type XIII, alpha 1".

Further reading

• Juvonen M, Pihlajaniemi T (1992). "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". J. Biol. Chem. 267 (34): 24693–9. doi: 10.1016/S0021-9258(18)35820-4 . PMID   1447209.
• Juvonen M, Sandberg M, Pihlajaniemi T (1992). "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". J. Biol. Chem. 267 (34): 24700–7. doi: 10.1016/S0021-9258(18)35821-6 . PMID   1447210.
• Pihlajaniemi T, Tamminen M (1990). "The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing". J. Biol. Chem. 265 (28): 16922–8. doi: 10.1016/S0021-9258(17)44849-6 . PMID   1698771.
• Tikka L, Elomaa O, Pihlajaniemi T, Tryggvason K (1991). "Human alpha 1 (XIII) collagen gene. Multiple forms of the gene transcripts are generated through complex alternative splicing of several short exons". J. Biol. Chem. 266 (26): 17713–9. doi: 10.1016/S0021-9258(19)47430-9 . PMID   1894651.
• Tikka L, Pihlajaniemi T, Henttu P, et al. (1988). "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". Proc. Natl. Acad. Sci. U.S.A. 85 (20): 7491–5. doi: 10.1073/pnas.85.20.7491 . PMC   282217 . PMID   2459707.
• Shows TB, Tikka L, Byers MG, et al. (1989). "Assignment of the human collagen alpha 1 (XIII) chain gene (COL13A1) to the q22 region of chromosome 10". Genomics. 5 (1): 128–33. doi:10.1016/0888-7543(89)90096-7. PMID   2767682.
• Pihlajaniemi T, Myllylä R, Seyer J, et al. (1987). "Partial characterization of a low molecular weight human collagen that undergoes alternative splicing". Proc. Natl. Acad. Sci. U.S.A. 84 (4): 940–4. doi: 10.1073/pnas.84.4.940 . PMC   304335 . PMID   3547403.
• Juvonen M, Pihlajaniemi T, Autio-Harmainen H (1994). "Location and alternative splicing of type XIII collagen RNA in the early human placenta". Lab. Invest. 69 (5): 541–51. PMID   8246446.
• Hägg P, Rehn M, Huhtala P, et al. (1998). "Type XIII collagen is identified as a plasma membrane protein". J. Biol. Chem. 273 (25): 15590–7. doi: 10.1074/jbc.273.25.15590 . PMID   9624150.
• Kvist AP, Latvanlehto A, Sund M, et al. (1999). "Complete exon-intron organization and chromosomal location of the gene for mouse type XIII collagen (col13a1) and comparison with its human homologue". Matrix Biol. 18 (3): 261–74. doi:10.1016/S0945-053X(99)00018-9. PMID   10429945.
• Nykvist P, Tu H, Ivaska J, et al. (2000). "Distinct recognition of collagen subtypes by alpha(1)beta(1) and alpha(2)beta(1) integrins. Alpha(1)beta(1) mediates cell adhesion to type XIII collagen". J. Biol. Chem. 275 (11): 8255–61. doi: 10.1074/jbc.275.11.8255 . PMID   10713152.
• Sandberg-Lall M, Hägg PO, Wahlström I, Pihlajaniemi T (2000). "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". Exp. Eye Res. 70 (4): 401–10. doi:10.1006/exer.1998.0826. PMID   10865988.
• Tu H, Sasaki T, Snellman A, et al. (2002). "The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin". J. Biol. Chem. 277 (25): 23092–9. doi: 10.1074/jbc.M107583200 . PMID   11956183.
• Latvanlehto A, Snellman A, Tu H, Pihlajaniemi T (2003). "Type XIII collagen and some other transmembrane collagens contain two separate coiled-coil motifs, which may function as independent oligomerization domains". J. Biol. Chem. 278 (39): 37590–9. doi: 10.1074/jbc.M305974200 . PMID   12832406.