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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7157877 (20 images)

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 InterPro	1640

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	col4a1-201 (1) Ensembl	Ensembl		5,961 nt	Select Tool
mRNA	col4a1-202 (1) Ensembl	Ensembl		3,954 nt	Select Tool ZFIN BLAST

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