Collagen, type XIII, alpha 1

Protein found in humans
COL13A1
Identifiers
AliasesCOL13A1, COLXIIIA1, CMS19, collagen type XIII alpha 1, collagen type XIII alpha 1 chain
External IDsOMIM: 120350 MGI: 1277201 HomoloGene: 22421 GeneCards: COL13A1
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for COL13A1
Genomic location for COL13A1
Band10q22.1Start69,801,880 bp[1]
End69,964,275 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for COL13A1
Genomic location for COL13A1
Band10 32.29 cM|10 B4Start61,674,015 bp[2]
End61,814,887 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 10: 61.67 – 61.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000197467 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. Bibcode:1988PNAS...85.7491T. 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. Bibcode:1987PNAS...84..940P. 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.
  • v
  • t
  • e
Extracellular
matrix
Collagen
Fibril forming
Other
Enzymes
Laminin
Other
Other


Stub icon

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e