1. Gene
  2. Col4a1 - collagen, type IV, alpha 1 Gene

Col4a1 - collagen, type IV, alpha 1 Gene

Mus musculus

Also known as Bru; Raw; Svc; Col4a-1

Gene ID: 12826 | Gene type: protein coding

About Col4a1

Summary

This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV Collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of Collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Col4a1 Products(1)

mRNA Protein Name
NM_009931.2 NP_034061.2 collagen alpha-1(IV) chain precursor
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cellular response to amino acid stimulus IDA
IDA: Inferred from direct assay
20548288 MGI
acts upstream of or within collagen-activated tyrosine kinase receptor signaling pathway IGI
IGI: Inferred from genetic interaction
10970885 MGI
acts upstream of or within neuromuscular junction development IMP
IMP: Inferred from mutant phenotype
17418794 MGI
Cellular Component GO Annotation Evidence Reference Source
located in basement membrane IDA
IDA: Inferred from direct assay
11511678 MGI
part of collagen type IV trimer IDA
IDA: Inferred from direct assay
12101409 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

collagen alpha-1(IV) chain

alpha-1 type IV collagen

alpha1(IV) collagen

procollagen, type IV, alpha 1

Orthologs Information

Species Symbol Source ID
Homo sapiens Col4a1 NCBI NCBI:1282