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COL4A1 (collagen type IV alpha 1 chain)

Identity

Alias (NCBI)BSVD
BSVD1
COL4A1s
PADMAL
RATOR
HGNC (Hugo) COL4A1
HGNC Previous namecollagen, type IV, alpha 1
LocusID (NCBI) 1282
Atlas_Id 43831
Location 13q34  [Link to chromosome band 13q34]
Location_base_pair Starts at 110148963 and ends at 110307157 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COL4A1 (13q34) / COL4A1 (13q34)COL4A1 (13q34) / ELK3 (12q23.1)COL4A1 (13q34) / ZNF827 (4q31.21)
MIRLET7BHG (22q13.31) / COL4A1 (13q34)SLC9A1 (1p36.11) / COL4A1 (13q34)UGGT2 (13q32.1) / COL4A1 (13q34)
COL4A1 13q34 / ELK3 12q23.1COL4A1 13q34 / ZNF827 4q31.21MIRLET7BHG 22q13.31 / COL4A1 13q34
UGGT2 13q32.1 / COL4A1 13q34

Note

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

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)COL4A1   2202
LRG (Locus Reference Genomic)LRG_1116
Cards
Entrez_Gene (NCBI)COL4A1    collagen type IV alpha 1 chain
AliasesBSVD; BSVD1; COL4A1s; PADMAL; 
RATOR
GeneCards (Weizmann)COL4A1
Ensembl hg19 (Hinxton)ENSG00000187498 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187498 [Gene_View]  ENSG00000187498 [Sequence]  chr13:110148963-110307157 [Contig_View]  COL4A1 [Vega]
ICGC DataPortalENSG00000187498
TCGA cBioPortalCOL4A1
AceView (NCBI)COL4A1
Genatlas (Paris)COL4A1
SOURCE (Princeton)COL4A1
Genetics Home Reference (NIH)COL4A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL4A1  -     chr13:110148963-110307157 -  13q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL4A1  -     13q34   [Description]    (hg19-Feb_2009)
GoldenPathCOL4A1 - 13q34 [CytoView hg19]  COL4A1 - 13q34 [CytoView hg38]
ImmunoBaseENSG00000187498
Genome Data Viewer NCBICOL4A1 [Mapview hg19]  
OMIM120130   175780   180000   611773   614519   618564   
Gene and transcription
Genbank (Entrez)AA678474 AB209646 AF258349 AF363672 AF400431
RefSeq transcript (Entrez)NM_001303110 NM_001845
Consensus coding sequences : CCDS (NCBI)COL4A1
Gene ExpressionCOL4A1 [ NCBI-GEO ]   COL4A1 [ EBI - ARRAY_EXPRESS ]   COL4A1 [ SEEK ]   COL4A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL4A1 [ Firebrowse - Broad ]
GenevisibleExpression of COL4A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1282
GTEX Portal (Tissue expression)COL4A1
Human Protein AtlasENSG00000187498-COL4A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02462   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02462  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02462
PhosPhoSitePlusP02462
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)Collagen    Collagen_IV_NC    Collagen_IV_NC_sf    CTDL_fold   
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
Conserved Domain (NCBI)COL4A1
PDB (RSDB)1LI1    5NAX    5NAY    6MPX   
PDB Europe1LI1    5NAX    5NAY    6MPX   
PDB (PDBSum)1LI1    5NAX    5NAY    6MPX   
PDB (IMB)1LI1    5NAX    5NAY    6MPX   
Structural Biology KnowledgeBase1LI1    5NAX    5NAY    6MPX   
SCOP (Structural Classification of Proteins)1LI1    5NAX    5NAY    6MPX   
CATH (Classification of proteins structures)1LI1    5NAX    5NAY    6MPX   
SuperfamilyP02462
AlphaFold pdb e-kbP02462   
Human Protein Atlas [tissue]ENSG00000187498-COL4A1 [tissue]
HPRD00359
Protein Interaction databases
DIP (DOE-UCLA)P02462
IntAct (EBI)P02462
BioGRIDCOL4A1
STRING (EMBL)COL4A1
ZODIACCOL4A1
Ontologies - Pathways
QuickGOP02462
Ontology : AmiGObranching involved in blood vessel morphogenesis  extracellular matrix structural constituent  extracellular matrix structural constituent  protein binding  extracellular region  extracellular region  collagen type IV trimer  basement membrane  basement membrane  extracellular space  endoplasmic reticulum lumen  brain development  neuromuscular junction development  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  epithelial cell differentiation  extracellular matrix  collagen-activated tyrosine kinase receptor signaling pathway  platelet-derived growth factor binding  blood vessel morphogenesis  retinal blood vessel morphogenesis  renal tubule morphogenesis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cellular response to amino acid stimulus  basement membrane organization  
Ontology : EGO-EBIbranching involved in blood vessel morphogenesis  extracellular matrix structural constituent  extracellular matrix structural constituent  protein binding  extracellular region  extracellular region  collagen type IV trimer  basement membrane  basement membrane  extracellular space  endoplasmic reticulum lumen  brain development  neuromuscular junction development  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix structural constituent conferring tensile strength  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  epithelial cell differentiation  extracellular matrix  collagen-activated tyrosine kinase receptor signaling pathway  platelet-derived growth factor binding  blood vessel morphogenesis  retinal blood vessel morphogenesis  renal tubule morphogenesis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cellular response to amino acid stimulus  basement membrane organization  
Pathways : BIOCARTARegulators of Bone Mineralization [Genes]    Vitamin C in the Brain [Genes]    Angiotensin-converting enzyme 2 regulates heart function [Genes]    Platelet Amyloid Precursor Protein Pathway [Genes]    Intrinsic Prothrombin Activation Pathway [Genes]    Acute Myocardial Infarction [Genes]   
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis    Pathways in cancer    Small cell lung cancer   
NDEx NetworkCOL4A1
Atlas of Cancer Signalling NetworkCOL4A1
Wikipedia pathwaysCOL4A1
Orthology - Evolution
OrthoDB1282
GeneTree (enSembl)ENSG00000187498
Phylogenetic Trees/Animal Genes : TreeFamCOL4A1
Homologs : HomoloGeneCOL4A1
Homology/Alignments : Family Browser (UCSC)COL4A1
Gene fusions - Rearrangements
Fusion : MitelmanCOL4A1/ELK3 [13q34/12q23.1]  
Fusion : MitelmanCOL4A1/ZNF827 [13q34/4q31.21]  
Fusion : MitelmanMIRLET7BHG/COL4A1 [22q13.31/13q34]  
Fusion : MitelmanUGGT2/COL4A1 [13q32.1/13q34]  
Fusion : QuiverCOL4A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL4A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A1
dbVarCOL4A1
ClinVarCOL4A1
MonarchCOL4A1
1000_GenomesCOL4A1 
Exome Variant ServerCOL4A1
GNOMAD BrowserENSG00000187498
Varsome BrowserCOL4A1
ACMGCOL4A1 variants
VarityP02462
Genomic Variants (DGV)COL4A1 [DGVbeta]
DECIPHERCOL4A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL4A1 
Mutations
ICGC Data PortalCOL4A1 
TCGA Data PortalCOL4A1 
Broad Tumor PortalCOL4A1
OASIS PortalCOL4A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL4A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOL4A1
Mutations and Diseases : HGMDCOL4A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCOL4A1
DgiDB (Drug Gene Interaction Database)COL4A1
DoCM (Curated mutations)COL4A1
CIViC (Clinical Interpretations of Variants in Cancer)COL4A1
Cancer3DCOL4A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120130    175780    180000    611773    614519    618564   
Orphanet580    8725    11071    11037    10421    14383   
DisGeNETCOL4A1
MedgenCOL4A1
Genetic Testing Registry COL4A1
NextProtP02462 [Medical]
GENETestsCOL4A1
Target ValidationCOL4A1
Huge Navigator COL4A1 [HugePedia]
ClinGenCOL4A1
Clinical trials, drugs, therapy
MyCancerGenomeCOL4A1
Protein Interactions : CTDCOL4A1
Pharm GKB GenePA26717
Pharm GKB PathwaysPA154444041   
PharosP02462
Clinical trialCOL4A1
Miscellaneous
canSAR (ICR)COL4A1
HarmonizomeCOL4A1
DataMed IndexCOL4A1
Probes
Litterature
PubMed230 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOL4A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:04:44 CEST 2021

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