Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GJA1 (gap junction protein, alpha 1, 43kDa)

Identity

Other namesAVSD3
CMDR
CX43
GJAL
HLHS1
HSS
ODDD
HGNC (Hugo) GJA1
LocusID (NCBI) 2697
Location 6q22.31
Location_base_pair Starts at 121756723 and ends at 121770890 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)GJA1   4274
Cards
Entrez_Gene (NCBI)GJA1  2697  gap junction protein, alpha 1, 43kDa
GeneCards (Weizmann)GJA1
Ensembl hg19 (Hinxton)ENSG00000152661 [Gene_View]  chr6:121756723-121770890 [Contig_View]  GJA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152661 [Gene_View]  chr6:121756723-121770890 [Contig_View]  GJA1 [Vega]
ICGC DataPortalENSG00000152661
cBioPortalGJA1
AceView (NCBI)GJA1
Genatlas (Paris)GJA1
WikiGenes2697
SOURCE (Princeton)GJA1
Genomic and cartography
GoldenPath hg19 (UCSC)GJA1  -     chr6:121756723-121770890 +  6q22.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GJA1  -     6q22.31   [Description]    (hg38-Dec_2013)
EnsemblGJA1 - 6q22.31 [CytoView hg19]  GJA1 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBIGJA1 [Mapview hg19]  GJA1 [Mapview hg38]
OMIM121014   164200   186100   218400   241550   257850   600309   
Gene and transcription
Genbank (Entrez)AK223289 AK294670 AK295460 AK297761 AK297764
RefSeq transcript (Entrez)NM_000165
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_008308 NT_025741 NW_001838990 NW_004929328
Consensus coding sequences : CCDS (NCBI)GJA1
Cluster EST : UnigeneHs.700699 [ NCBI ]
CGAP (NCI)Hs.700699
Alternative Splicing : Fast-db (Paris)GSHG0026001
Alternative Splicing GalleryENSG00000152661
Gene ExpressionGJA1 [ NCBI-GEO ]     GJA1 [ SEEK ]   GJA1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17302 (Uniprot)
NextProtP17302  [Medical]
With graphics : InterProP17302
Splice isoforms : SwissVarP17302 (Swissvar)
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin43    Connexin43_C    Connexin_CCC    Connexin_CS    Connexin_N   
Related proteins : CluSTrP17302
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin43 (PF03508)    Connexin_CCC (PF10582)   
Domain families : Pfam (NCBI)pfam00029    pfam03508    pfam10582   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
DMDM Disease mutations2697
Blocks (Seattle)P17302
PDB (SRS)2LL2   
PDB (PDBSum)2LL2   
PDB (IMB)2LL2   
PDB (RSDB)2LL2   
Human Protein AtlasENSG00000152661
Peptide AtlasP17302
HPRD00414
IPIIPI00218487   IPI00940619   
Protein Interaction databases
DIP (DOE-UCLA)P17302
IntAct (EBI)P17302
FunCoupENSG00000152661
BioGRIDGJA1
IntegromeDBGJA1
STRING (EMBL)GJA1
Ontologies - Pathways
QuickGOP17302
Ontology : AmiGOGolgi membrane  chronic inflammatory response  positive regulation of glomerular filtration  endothelium development  signal transducer activity  gap junction channel activity  protein binding  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  transport  apoptotic process  muscle contraction  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  heart development  response to pH  vascular transport  cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  SH3 domain binding  PDZ domain binding  Golgi-associated vesicle membrane  ion transmembrane transport  response to fluid shear stress  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to peptide hormone  membrane raft  positive regulation of protein catabolic process  positive regulation of vasoconstriction  positive regulation of vasodilation  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  transmembrane transport  negative regulation of cardiac muscle cell proliferation  membrane organization  extracellular vesicular exosome  connexin binding  cellular response to mechanical stimulus  atrial cardiac muscle cell action potential  regulation of tight junction assembly  positive regulation of behavioral fear response  
Ontology : EGO-EBIGolgi membrane  chronic inflammatory response  positive regulation of glomerular filtration  endothelium development  signal transducer activity  gap junction channel activity  protein binding  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  transport  apoptotic process  muscle contraction  signal transduction  positive regulation of cytosolic calcium ion concentration  cell-cell signaling  heart development  response to pH  vascular transport  cell communication by electrical coupling  positive regulation of cell communication by chemical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  SH3 domain binding  PDZ domain binding  Golgi-associated vesicle membrane  ion transmembrane transport  response to fluid shear stress  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to peptide hormone  membrane raft  positive regulation of protein catabolic process  positive regulation of vasoconstriction  positive regulation of vasodilation  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  transmembrane transport  negative regulation of cardiac muscle cell proliferation  membrane organization  extracellular vesicular exosome  connexin binding  cellular response to mechanical stimulus  atrial cardiac muscle cell action potential  regulation of tight junction assembly  positive regulation of behavioral fear response  
Pathways : BIOCARTAInactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]   
Pathways : KEGGGap junction    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseGJA1
DoCM (Curated mutations)GJA1
Wikipedia pathwaysGJA1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGJA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GJA1
dbVarGJA1
ClinVarGJA1
1000_GenomesGJA1 
Exome Variant ServerGJA1
SNP (GeneSNP Utah)GJA1
SNP : HGBaseGJA1
Genetic variants : HAPMAPGJA1
Genomic VariantsGJA1  GJA1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000152661 
Somatic Mutations in Cancer : COSMICGJA1 
CONAN: Copy Number AnalysisGJA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:121756723-121770890
Mutations and Diseases : HGMDGJA1
OMIM121014    164200    186100    218400    241550    257850    600309   
MedgenGJA1
NextProtP17302 [Medical]
GENETestsGJA1
Disease Genetic AssociationGJA1
Huge Navigator GJA1 [HugePedia]  GJA1 [HugeCancerGEM]
snp3D : Map Gene to Disease2697
DGIdb (Drug Gene Interaction db)GJA1
General knowledge
Homologs : HomoloGeneGJA1
Homology/Alignments : Family Browser (UCSC)GJA1
Phylogenetic Trees/Animal Genes : TreeFamGJA1
Chemical/Protein Interactions : CTD2697
Chemical/Pharm GKB GenePA28685
Clinical trialGJA1
Cancer Resource (Charite)ENSG00000152661
Other databases
Probes
Litterature
PubMed351 Pubmed reference(s) in Entrez
CoreMineGJA1
GoPubMedGJA1
iHOPGJA1
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 21:46:34 CET 2014
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