GenTIGS

Collagen type IV alpha 1 chain (COL4A1) Associated conditions: 1. Irido-corneo-trabecular dysgenesis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001303110.2	NP_001290039.1	NC_000013.11	(110148962..110307156, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001845.6	NP_001836.3	NC_000013.11	(110148962..110307156, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1262 reference articles

Variant Information Collagen type IV alpha 1 chain (COL4A1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type IV alpha 1 chain (COL4A1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Collagen type IV alpha 1 chain (COL4A1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	angiogenesis	Process	-
2	Homo sapiens	IMP	involved_in	branching involved in blood vessel morphogenesis	Process	20818663
3	Homo sapiens	IEA	enables	extracellular matrix structural constituent	Function	-
4	Homo sapiens	IMP	enables	extracellular matrix structural constituent	Function	20818663
5	Homo sapiens	IPI	enables	protein binding	Function	12011424
6	Homo sapiens	NAS	located_in	extracellular region	Component	14718574
7	Homo sapiens	TAS	located_in	extracellular region	Component	-
8	Homo sapiens	IEA	part_of	collagen trimer	Component	-
9	Homo sapiens	IBA	part_of	collagen type IV trimer	Component	-
10	Homo sapiens	IEA	part_of	collagen type IV trimer	Component	-
11	Homo sapiens	IMP	part_of	collagen type IV trimer	Component	16107487
12	Homo sapiens	IC	located_in	basement membrane	Component	23065703
13	Homo sapiens	IEA	located_in	basement membrane	Component	-
14	Homo sapiens	IEA	located_in	endoplasmic reticulum lumen	Component	-
15	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
16	Homo sapiens	IMP	involved_in	brain development	Process	16107487
17	Homo sapiens	HDA	enables	extracellular matrix structural constituent conferring tensile strength	Function	28344315
18	Homo sapiens	IBA	enables	extracellular matrix structural constituent conferring tensile strength	Function	-
19	Homo sapiens	IMP	enables	extracellular matrix structural constituent conferring tensile strength	Function	16107487
20	Homo sapiens	RCA	enables	extracellular matrix structural constituent conferring tensile strength	Function	23979707 25037231 27068509 27559042 28327460 28675934
21	Homo sapiens	IBA	involved_in	extracellular matrix organization	Process	-
22	Homo sapiens	NAS	involved_in	collagen fibril organization	Process	29853175
23	Homo sapiens	IEA	involved_in	epithelial cell differentiation	Process	-
24	Homo sapiens	HDA	located_in	extracellular matrix	Component	23658023 23979707 25037231 27068509 27559042 28327460 28344315 28675934
25	Homo sapiens	IBA	is_active_in	extracellular matrix	Component	-
26	Homo sapiens	ISS	colocalizes_with	extracellular matrix	Component	22261194
27	Homo sapiens	IDA	enables	platelet-derived growth factor binding	Function	8900172
28	Homo sapiens	IMP	involved_in	blood vessel morphogenesis	Process	20818663
29	Homo sapiens	IMP	involved_in	retinal blood vessel morphogenesis	Process	20818663
30	Homo sapiens	IMP	involved_in	renal tubule morphogenesis	Process	18160688
31	Homo sapiens	IMP	involved_in	basement membrane organization	Process	18160688 19949034 23065703