COL4A1 (collagen type IV alpha 1 chain)

2007-02-01 Affiliation

Identity

HGNC

COL4A1

LOCATION

13q34

LOCUSID

1282

ALIAS

BSVD,BSVD1,COL4A1s,PADMAL,RATOR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1282
MIM: 120130
HGNC: 2202
Ensembl: ENSG00000187498

Variants:

dbSNP: 1282
ClinVar: 1282
TCGA: ENSG00000187498
COSMIC: COL4A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187498	ENST00000375820	P02462
ENSG00000187498	ENST00000543140	P02462
ENSG00000187498	ENST00000615732	A0A087WTY5
ENSG00000187498	ENST00000647797	A0A3B3ITG7
ENSG00000187498	ENST00000648695	A0A3B3ITC8
ENSG00000187498	ENST00000648966	A0A3B3ISZ8
ENSG00000187498	ENST00000648989	A0A3B3IUD0
ENSG00000187498	ENST00000649484	A0A3B3ISH5
ENSG00000187498	ENST00000650115	A0A3B3ITS9
ENSG00000187498	ENST00000650424	A0A3B3ISV3
ENSG00000187498	ENST00000650566	A0A3B3IU02

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Focal adhesion	KEGG	ko04510
ECM-receptor interaction	KEGG	ko04512
Small cell lung cancer	KEGG	ko05222
Focal adhesion	KEGG	hsa04510
ECM-receptor interaction	KEGG	hsa04512
Pathways in cancer	KEGG	hsa05200
Small cell lung cancer	KEGG	hsa05222
Amoebiasis	KEGG	ko05146
Amoebiasis	KEGG	hsa05146
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Signal Transduction	REACTOME	R-HSA-162582
Signaling by PDGF	REACTOME	R-HSA-186797
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Binding and Uptake of Ligands by Scavenger Receptors	REACTOME	R-HSA-2173782
Scavenging by Class A Receptors	REACTOME	R-HSA-3000480
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Assembly of collagen fibrils and other multimeric structures	REACTOME	R-HSA-2022090
Integrin cell surface interactions	REACTOME	R-HSA-216083
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
NCAM1 interactions	REACTOME	R-HSA-419037
AGE-RAGE signaling pathway in diabetic complications	KEGG	ko04933
AGE-RAGE signaling pathway in diabetic complications	KEGG	hsa04933
Collagen chain trimerization	REACTOME	R-HSA-8948216

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA179	GP1BB	Gene	Pathway	associated	20938371
PA204	ITGA2	Gene	Pathway	associated	20938371
PA26212	CD36	Gene	Pathway	associated	20938371
PA28823	GP5	Gene	Pathway	associated	20938371
PA28824	GP6	Gene	Pathway	associated	20938371
PA28825	GP9	Gene	Pathway	associated	20938371

References

Pubmed ID	Year	Title	Citations
38058103	2024	Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.	0
38331745	2024	Collagen type IV alpha 1 chain (COL4A1) expression in the developing human lung.	0
38630472	2024	An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.	0
38058103	2024	Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.	0
38331745	2024	Collagen type IV alpha 1 chain (COL4A1) expression in the developing human lung.	0
38630472	2024	An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.	0
36349777	2023	Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy.	0
37540089	2023	Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study.	1
36349777	2023	Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy.	0
37540089	2023	Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study.	1
34281442	2022	Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.	2
34415564	2022	A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.	5
35297303	2022	Collagen type IV alpha 1 (COL4A1) silence hampers the invasion, migration and epithelial-mesenchymal transition (EMT) of gastric cancer cells through blocking Hedgehog signaling pathway.	11
35382634	2022	Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.	1
35532293	2022	The ETS1-LINC00278 negative feedback loop plays a role in COL4A1/COL4A2 regulation in laryngeal squamous cell carcinoma.	4

Citation

Dessen P

COL4A1 (collagen type IV alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43831/gene-fusions/favicon/cancer-prone-explorer/