1. Gene
  2. COL19A1 - collagen type XIX alpha 1 chain Gene

COL19A1 - collagen type XIX alpha 1 chain Gene

Homo sapiens

Also known as COL9A1L; D6S228E

Gene ID: 1310 | Gene type: protein coding

About COL19A1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:69,866,556-70,212,468 (from NCBI)

This gene has 5 transcripts (splice variants), 132 orthologues and 23 paralogues. Broad expression in lymph node (RPKM 1.1), appendix (RPKM 0.8) and 14 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

COL19A1 Products(1)

mRNA Protein Name
NM_001858.6 NP_001849.2 collagen alpha-1(XIX) chain precursor
Protein Preferred Names Protein Names

collagen alpha-1(XIX) chain

a1 chain of type XIX collagen

Related Diseases

Diseases Alias
Megaesophagus

Esophageal Achalasia

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus COL19A1 VGNC VGNC:102407
Rattus norvegicus COL19A1 RGD RGD:1308920
Mus musculus COL19A1 MGD MGI:1095415
Canis familiaris COL19A1 VGNC VGNC:39463
Macaca mulatta COL19A1 VGNC VGNC:71294