Collagen, type XXVII, alpha 1

COL27A1
Identifiers
Aliases	COL27A1, STLS, collagen type XXVII alpha 1, collagen type XXVII alpha 1 chain
External IDs	OMIM: 608461; MGI: 2672118; HomoloGene: 69400; GeneCards: COL27A1; OMA:COL27A1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	114,312,511 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	63,334,991 bp
RNA expression pattern
	Top expressed in
	tibia; ; cerebellar vermis; ; pancreatic ductal cell; ; canal of the cervix; ; pylorus; ; cartilage tissue; ; cerebellar hemisphere; ; renal medulla; ; right hemisphere of cerebellum; ; skin of arm;
	Top expressed in
	molar; ; lesser wing of sphenoid bone; ; stria vascularis; ; otolith organ; ; utricle; ; internal carotid artery; ; hand; ; index finger; ; phalanx of index finger; ; rib;
	More reference expression data
	n/a
Gene ontology
Molecular function	extracellular matrix structural constituent; metal ion binding; extracellular matrix structural constituent conferring tensile strength;
Cellular component	extracellular region; fibrillar collagen trimer; collagen; endoplasmic reticulum lumen; extracellular space; extracellular matrix; collagen-containing extracellular matrix;
Biological process	growth plate cartilage chondrocyte development; extracellular matrix organization;
	Sources:Amigo / QuickGO
Orthologs
	85301
	373864
	ENSG00000196739
	ENSMUSG00000045672
	Q8IZC6
	Q5QNQ9
	NM_032161; NM_032888
	NM_025685
	NP_116277
	NP_079961
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1 (XXVII) chain (COL27A1) is a protein that in humans is encoded by the COL27A1 gene.^[5]

COL27A1 is a type XXVII collagen. It was discovered by James Pace.^[6] This gene appears to be turned on in cartilage, the eye, and in the ear. Type XXVII collagen is related to the "fibrillar" class of collagens and may play a role in development of the skeleton.

Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon.^[5]^[7]

Location

COL27A1 is located on chromosome 9 in homo sapiens specifically on spot number 32.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000196739 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045672 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: collagen".
^ Pace JM, Corrado M, Missero C, Byers PH (March 2003). "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1". Matrix Biol. 22 (1): 3–14. doi:10.1016/S0945-053X(03)00007-6. PMID 12714037.
^ Boot-Handford RP, Tuckwell DS, Plumb DA, Rock CF, Poulsom R (August 2003). "A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family". J. Biol. Chem. 278 (33): 31067–77. doi:10.1074/jbc.M212889200. PMID 12766169.
^ "COL27A1 gene - Genetics Home Reference". ghr.nlm.nih.gov. Archived from the original on 2017-02-07.

Gudbjartsson DF, Walters GB, Thorleifsson G, et al. (2008). "Many sequence variants affecting diversity of adult human height". Nat. Genet. 40 (5): 609–15. doi:10.1038/ng.122. PMID 18391951. S2CID 3005450.
Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Nagase T, Nakayama M, Nakajima D, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
Jenkins E, Moss JB, Pace JM, Bridgewater LC (2005). "The new collagen gene COL27A1 contains SOX9-responsive enhancer elements". Matrix Biol. 24 (3): 177–84. doi:10.1016/j.matbio.2005.02.004. PMC 3205994. PMID 15922909.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
Vieira AR, McHenry TG, Daack-Hirsch S, et al. (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genet. Med. 10 (9): 668–74. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000196739 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000045672 – 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.

[entrez-5] "Entrez Gene: collagen".

[pmid12714037-6] Pace JM, Corrado M, Missero C, Byers PH (March 2003). "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1". Matrix Biol. 22 (1): 3–14. doi:10.1016/S0945-053X(03)00007-6. PMID 12714037.

[pmid12766169-7] Boot-Handford RP, Tuckwell DS, Plumb DA, Rock CF, Poulsom R (August 2003). "A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family". J. Biol. Chem. 278 (33): 31067–77. doi:10.1074/jbc.M212889200. PMID 12766169.

[8] "COL27A1 gene - Genetics Home Reference". ghr.nlm.nih.gov. Archived from the original on 2017-02-07.

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Location

References

Further reading