Gene

col4a1

ID
ZDB-GENE-081105-114
Name
collagen, type IV, alpha 1
Symbol
col4a1 Nomenclature History
Previous Names
  • fj65e07
  • im:7157877 (1)
  • si:ch211-174g17.1 (1)
  • wu:fj65e07 (1)
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in COL4A1-related familial vascular leukoencephalopathy; myocardial infarction; and retinal arterial tortuosity. Is expressed in cardiovascular system; hypodermis; paraxial mesoderm; and vasculature. Orthologous to human COL4A1 (collagen type IV alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
14 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Stratman et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col4a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
brain small vessel disease 1 Alliance Brain small vessel disease with or without ocular anomalies 175780
retinal arterial tortuosity Alliance ?Retinal arteries, tortuosity of 180000
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564
{Hemorrhage, intracerebral, susceptibility to} 614519
Associated With col4a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001442 Collagen IV, non-collagenous
Family IPR050149 Collagen superfamily
Homologous_superfamily IPR016187 C-type lectin fold
Homologous_superfamily IPR036954 Collagen IV, non-collagenous domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen IV, non-collagenous Collagen IV, non-collagenous domain superfamily Collagen superfamily Collagen triple helix repeat C-type lectin fold
UniProtKB:A0A8N7UT91 1640
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA col4a1-201 (1) Ensembl 5,961 nt
mRNA col4a1-202 (1) Ensembl 3,954 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations