Collagen, type XII, alpha 1

COL12A1
Identifiers
Aliases	COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP
External IDs	OMIM: 120320; MGI: 88448; GeneCards: COL12A1
Gene location (Human)
Chr.	Chromosome 6 (human)
End	75,206,267 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	79,626,113 bp
RNA expression pattern
	Top expressed in
	tibia; ; Achilles tendon; ; cartilage tissue; ; stromal cell of endometrium; ; skin of arm; ; pericardium; ; synovial joint; ; vulva; ; tail of epididymis; ; synovial membrane;
	Top expressed in
	body of femur; ; calvaria; ; umbilical cord; ; dermis; ; stroma of bone marrow; ; molar; ; vas deferens; ; human fetus; ; efferent ductule; ; external carotid artery;
	More reference expression data
	n/a
Gene ontology
Molecular function	extracellular matrix structural constituent conferring tensile strength;
Cellular component	extracellular vesicle; collagen type XII trimer; collagen; endoplasmic reticulum lumen; extracellular exosome; extracellular space; extracellular matrix; extracellular region; collagen-containing extracellular matrix;
Biological process	collagen catabolic process; skeletal system development; cell adhesion; endodermal cell differentiation; collagen fibril organization; growth plate cartilage chondrocyte morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	1303
	12816
	ENSG00000111799
	ENSMUSG00000032332
	Q99715
	Q60847
	NM_004370; NM_080645
	NM_001290308; NM_007730
	NP_004361; NP_542376
	NP_001277237
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.^[5]^[6]

AliasesCOL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP

External IDsOMIM: 120320; MGI: 88448; GeneCards: COL12A1

Chr.Chromosome 6 (human)^[1]

End75,206,267 bp^[1]

Quick facts COL12A1, Identifiers ...

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This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.

Alternatively spliced transcript variants encoding different isoforms have been identified.^[6]

[5]

[6]

[1]

[2]

[3]

[4]

Collagen, type XII, alpha 1

Clinical significance

References

Further reading

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"Immunoidentification of type XII collagen in embryonic tissues"

"Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning"

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"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes"