COL1A1 (collagen type I alpha 1 chain) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: COL1A1 (collagen type I alpha 1 chain) Homo sapiens
Symbol: COL1A1
Name: collagen type I alpha 1 chain
RGD ID: 734049
HGNC Page HGNC:2197
Description: Enables identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including collagen biosynthetic process; collagen fibril organization; and skin morphogenesis. Acts upstream of or within skeletal system development. Located in extracellular space. Part of collagen type I trimer. Implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Biomarker of several diseases, including alcoholic hepatitis; autoimmune disease (multiple); end stage renal disease; lupus nephritis; and thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1 type I collagen; alpha1(I) procollagen; CAFYD; collagen alpha 1 chain type I; collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; collagen of skin, tendon and bone, alpha-1 chain; collagen type I alpha 1; collagen, type I, alpha 1; EDSARTH1; EDSC; OI1; OI2; OI3; OI4; pro-alpha-1 collagen type 1; type I proalpha 1; type I procollagen alpha 1 chain
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381750,184,101 - 50,201,631 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,184,101 - 50,201,632 (-)EnsemblGRCh38hg38GRCh38
GRCh371748,261,462 - 48,278,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,616,456 - 45,633,999 (-)NCBINCBI36Build 36hg18NCBI36
Build 341745,616,455 - 45,633,992NCBI
Celera1744,722,303 - 44,739,829 (-)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,630,129 - 43,647,463 (-)NCBIHuRef
CHM1_11748,325,754 - 48,343,284 (-)NCBICHM1_1
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)