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COL4A1 (collagen, type IV, alpha 1)

Identity

Other namesHANAC
ICH
POREN1
arresten
HGNC (Hugo) COL4A1
LocusID (NCBI) 1282
Location 13q34
Location_base_pair Starts at 110801310 and ends at 110959496 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)COL4A1  1282  collagen, type IV, alpha 1
GeneCards (Weizmann)COL4A1
Ensembl hg19 (Hinxton)ENSG00000187498 [Gene_View]  chr13:110801310-110959496 [Contig_View]  COL4A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000187498 [Gene_View]  chr13:110801310-110959496 [Contig_View]  COL4A1 [Vega]
ICGC DataPortalENSG00000187498
cBioPortalCOL4A1
AceView (NCBI)COL4A1
Genatlas (Paris)COL4A1
WikiGenes1282
SOURCE (Princeton)COL4A1
Genomic and cartography
GoldenPath hg19 (UCSC)COL4A1  -     chr13:110801310-110959496 -  13q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL4A1  -     13q34   [Description]    (hg38-Dec_2013)
EnsemblCOL4A1 - 13q34 [CytoView hg19]  COL4A1 - 13q34 [CytoView hg38]
Mapping of homologs : NCBICOL4A1 [Mapview hg19]  COL4A1 [Mapview hg38]
OMIM120130   175780   607595   611773   614519   
Gene and transcription
Genbank (Entrez)AB209646 AF258349 AF363672 AF400431 AF536207
RefSeq transcript (Entrez)NM_001845
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_011544 NT_009952 NW_001838084 NW_004929389
Consensus coding sequences : CCDS (NCBI)COL4A1
Cluster EST : UnigeneHs.17441 [ NCBI ]
CGAP (NCI)Hs.17441
Alternative Splicing : Fast-db (Paris)GSHG0008636
Alternative Splicing GalleryENSG00000187498
Gene ExpressionCOL4A1 [ NCBI-GEO ]     COL4A1 [ SEEK ]   COL4A1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02462 (Uniprot)
NextProtP02462  [Medical]
With graphics : InterProP02462
Splice isoforms : SwissVarP02462 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_IV (PS51403)   
Domains : Interpro (EBI)C-type_lectin_fold    Collagen    Collagen_VI_NC   
Related proteins : CluSTrP02462
Domain families : Pfam (Sanger)C4 (PF01413)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01413    pfam01391   
Domain families : Smart (EMBL)C4 (SM00111)  
DMDM Disease mutations1282
Blocks (Seattle)P02462
PDB (SRS)1LI1   
PDB (PDBSum)1LI1   
PDB (IMB)1LI1   
PDB (RSDB)1LI1   
Human Protein AtlasENSG00000187498
Peptide AtlasP02462
HPRD00359
IPIIPI00743696   IPI00873684   IPI01010175   IPI00816684   
Protein Interaction databases
DIP (DOE-UCLA)P02462
IntAct (EBI)P02462
FunCoupENSG00000187498
BioGRIDCOL4A1
IntegromeDBCOL4A1
STRING (EMBL)COL4A1
Ontologies - Pathways
QuickGOP02462
Ontology : AmiGOpatterning of blood vessels  extracellular matrix structural constituent  protein binding  extracellular region  extracellular region  collagen type IV trimer  basement membrane  endoplasmic reticulum lumen  axon guidance  brain development  neuromuscular junction development  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  collagen catabolic process  epithelial cell differentiation  extracellular matrix  platelet-derived growth factor binding  blood vessel morphogenesis  retinal blood vessel morphogenesis  renal tubule morphogenesis  cellular response to amino acid stimulus  basement membrane organization  
Ontology : EGO-EBIpatterning of blood vessels  extracellular matrix structural constituent  protein binding  extracellular region  extracellular region  collagen type IV trimer  basement membrane  endoplasmic reticulum lumen  axon guidance  brain development  neuromuscular junction development  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  collagen catabolic process  epithelial cell differentiation  extracellular matrix  platelet-derived growth factor binding  blood vessel morphogenesis  retinal blood vessel morphogenesis  renal tubule morphogenesis  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   
Protein Interaction DatabaseCOL4A1
DoCM (Curated mutations)COL4A1
Wikipedia pathwaysCOL4A1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCOL4A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL4A1
dbVarCOL4A1
ClinVarCOL4A1
1000_GenomesCOL4A1 
Exome Variant ServerCOL4A1
SNP (GeneSNP Utah)COL4A1
SNP : HGBaseCOL4A1
Genetic variants : HAPMAPCOL4A1
Genomic VariantsCOL4A1  COL4A1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000187498 
Somatic Mutations in Cancer : COSMICCOL4A1 
CONAN: Copy Number AnalysisCOL4A1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Connective tissue disorders (VUMC Amsterdam)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:110801310-110959496
Mutations and Diseases : HGMDCOL4A1
OMIM120130    175780    607595    611773    614519   
MedgenCOL4A1
NextProtP02462 [Medical]
GENETestsCOL4A1
Disease Genetic AssociationCOL4A1
Huge Navigator COL4A1 [HugePedia]  COL4A1 [HugeCancerGEM]
snp3D : Map Gene to Disease1282
DGIdb (Drug Gene Interaction db)COL4A1
General knowledge
Homologs : HomoloGeneCOL4A1
Homology/Alignments : Family Browser (UCSC)COL4A1
Phylogenetic Trees/Animal Genes : TreeFamCOL4A1
Chemical/Protein Interactions : CTD1282
Chemical/Pharm GKB GenePA26717
Clinical trialCOL4A1
Cancer Resource (Charite)ENSG00000187498
Other databases
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
CoreMineCOL4A1
GoPubMedCOL4A1
iHOPCOL4A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:56:03 CET 2014

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