Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: COL1A1 (collagen type I alpha 1 chain) Homo sapiens
Analyze
Symbol: COL1A1
Name: collagen type I alpha 1 chain
Description: Exhibits identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including animal organ morphogenesis; collagen biosynthetic process; and collagen fibril organization. Localizes to collagen type I trimer and extracellular space. Implicated in several diseases, including beta thalassemia; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Biomarker of several diseases, including alcoholic hepatitis; end stage renal disease; lupus nephritis; multiple sclerosis; and ulcerative colitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
Orthologs:
Mus musculus (house mouse) : Col1a1 (collagen, type I, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col1a1 (collagen type I alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col1a1 (collagen type I alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL1A1 (collagen type I alpha 1 chain)
Canis lupus familiaris (dog) : COL1A1 (collagen type I alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col1a1 (collagen type I alpha 1 chain)
Sus scrofa (pig) : COL1A1 (collagen type I alpha 1 chain)
Chlorocebus sabaeus (African green monkey) : COL1A1 (collagen type I alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col1a1 (collagen type I alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1750,183,289 - 50,201,632 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1750,184,101 - 50,201,632 (-)EnsemblGRCh38hg38GRCh38
GRCh381750,184,096 - 50,201,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371748,261,457 - 48,279,003 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,616,456 - 45,633,999 (-)NCBINCBI36hg18NCBI36
Build 341745,616,455 - 45,633,992NCBI
Celera1744,722,303 - 44,739,829 (-)NCBI
Cytogenetic Map17q21.33NCBI
HuRef1743,630,129 - 43,647,463 (-)NCBIHuRef
CHM1_11748,325,754 - 48,343,284 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model