COL1A1

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Description

Collagen type I alpha 1 chain

Tissue specificity

Tissue enhanced (cervix, gallbladder)

Subcell location

Endoplasmic reticulum, Vesicles

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (50184101 - 50201632)

Ensembl ID

ENSG00000108821  (ver. 103.38)

Orthologs

Mouse Col1a1: ENSMUSG00000001506

UniProt

P02452

neXtProt

NX_P02452

Human splice variants
Mouse splice variants

Protein structure