COL4A1 (collagen type IV alpha 1 chain)

2007-02-01  

Identity

HGNC
COL4A1
LOCATION
13q34
LOCUSID
1282
ALIAS
BSVD,BSVD1,COL4A1s,PADMAL,RATOR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187498ENST00000375820P02462
ENSG00000187498ENST00000543140P02462
ENSG00000187498ENST00000615732A0A087WTY5
ENSG00000187498ENST00000647797A0A3B3ITG7
ENSG00000187498ENST00000648695A0A3B3ITC8
ENSG00000187498ENST00000648966A0A3B3ISZ8
ENSG00000187498ENST00000648989A0A3B3IUD0
ENSG00000187498ENST00000649484A0A3B3ISH5
ENSG00000187498ENST00000650115A0A3B3ITS9
ENSG00000187498ENST00000650424A0A3B3ISV3
ENSG00000187498ENST00000650566A0A3B3IU02

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA179GP1BBGenePathwayassociated20938371
PA204ITGA2GenePathwayassociated20938371
PA26212CD36GenePathwayassociated20938371
PA28823GP5GenePathwayassociated20938371
PA28824GP6GenePathwayassociated20938371
PA28825GP9GenePathwayassociated20938371

References

Pubmed IDYearTitleCitations
159054002005Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.143
165980452006Role of COL4A1 in small-vessel disease and hemorrhagic stroke.130
181606882007COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186695832008Gene expression profiling identifies genes predictive of oral squamous cell carcinoma.80
200677972010High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
222092472012COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.59
251183282014Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126.51
205588312010COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.45

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/col4a1