Gene table of COL4A1 : collagen type IV alpha 1 chain

Gene-disease associations table

Disease IDDisease nameSource of annotation with COL4A1OMIM linkNumber of associated genesgenes
607595BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIESClinVar, OMIM, HUMSAVAR link to OMIM 1COL4A1
PS175780PORENCEPHALYClinVar, OMIM, HUMSAVAR link to OMIM 2COL4A1, COL4A2
614519HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TOClinVar, OMIM, HUMSAVAR link to OMIM 3ACE, COL4A2, COL4A1
611773ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPSClinVar, OMIM, HUMSAVAR link to OMIM 1COL4A1
180000RETINAL ARTERIES, TORTUOSITY OFClinVar, OMIM, HUMSAVAR link to OMIM 1COL4A1
269160SCHIZENCEPHALYHUMSAVAR link to OMIM 4SIX3, EMX2, COL4A1, SHH

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Annotation of the gene COL4A1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 606, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Pathways in cancerhsa052003.98
Amoebiasishsa051465.82
Small cell lung cancerhsa052226.17
Focal adhesionhsa045104.92
ECM-receptor interactionhsa045126.09
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Integrin cell surface interactionsR-HSA-2160836.57
Laminin interactionsR-HSA-30001578.08
NCAM signaling for neurite out-growthR-HSA-3751654.9
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.2
Anchoring fibril formationR-HSA-22143209.08
Degradation of the extracellular matrixR-HSA-14742286.11
Collagen degradationR-HSA-14424907.03
ECM proteoglycansR-HSA-30001786.75
Scavenging by Class A ReceptorsR-HSA-30004808.73
NCAM1 interactionsR-HSA-4190377.59
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Signal TransductionR-HSA-1625821.78
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Signaling by PDGFR-HSA-1867974.53
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
Axon guidanceR-HSA-4224753.93
Binding and Uptake of Ligands by Scavenger ReceptorsR-HSA-21737825.38
Developmental BiologyR-HSA-12667383.48
Vesicle-mediated transportR-HSA-56536564.33
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
extracellular matrix constituent conferring elasticityGO:00300237.95
growth factor bindingGO:00198384.89
structural molecule activityGO:00051983.1
bindingGO:00054880.18
protein bindingGO:00055150.46
platelet-derived growth factor bindingGO:00484077.34
structural molecule activity conferring elasticityGO:00974937.66