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
DFNB38
GJAL
HLHS1
HSS
ODDD
HGNC (Hugo) GJA1
LocusID (NCBI) 2697
Location 6q22.31
Location_base_pair Starts at 121756745 and ends at 121770873 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 (Hinxton)ENSG00000152661 [Gene_View]  chr6:121756745-121770873 [Contig_View]  GJA1 [Vega]
ICGC DataPortalENSG00000152661
cBioPortalGJA1
AceView (NCBI)GJA1
Genatlas (Paris)GJA1
WikiGenes2697
SOURCE (Princeton)NM_000165
Genomic and cartography
GoldenPath (UCSC)GJA1  -  6q22.31   chr6:121756745-121770873 +  6q22.31   [Description]    (hg19-Feb_2009)
EnsemblGJA1 - 6q22.31 [CytoView]
Mapping of homologs : NCBIGJA1 [Mapview]
OMIM121014   164200   186100   234100   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.74471 [ NCBI ]
CGAP (NCI)Hs.74471
Alternative Splicing : Fast-db (Paris)GSHG0026001
Alternative Splicing GalleryENSG00000152661
Gene ExpressionGJA1 [ NCBI-GEO ]     GJA1 [ SEEK ]   GJA1 [ MEM ]
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 [organisation]   Connexin43 [organisation]   Connexin43_C [organisation]   Connexin_CCC [organisation]   Connexin_CS [organisation]   Connexin_N [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP17302
HPRD00414
IPIIPI00218487   IPI00940619   
Protein Interaction databases
DIP (DOE-UCLA)P17302
IntAct (EBI)P17302
FunCoupENSG00000152661
BioGRIDGJA1
InParanoidP17302
Interologous Interaction database P17302
IntegromeDBGJA1
STRING (EMBL)GJA1
Ontologies - Pathways
Ontology : AmiGOGolgi membrane  osteoblast differentiation  in utero embryonic development  neuron migration  heart looping  epithelial cell maturation  lens development in camera-type eye  atrial ventricular junction remodeling  signal transducer activity  receptor binding  gap junction channel activity  protein binding  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  cytosol  intermediate filament  plasma membrane  plasma membrane  integral to plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  transport  apoptotic process  muscle contraction  signal transduction  cell-cell signaling  heart development  adult heart development  negative regulation of cell proliferation  response to pH  vascular transport  positive regulation of gene expression  negative regulation of gene expression  cell communication by chemical coupling  cell communication by electrical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  apical plasma membrane  lateral plasma membrane  SH3 domain binding  PDZ domain binding  regulation of bone mineralization  Golgi-associated vesicle membrane  positive regulation of I-kappaB kinase/NF-kappaB cascade  contractile fiber  skeletal muscle tissue regeneration  response to peptide hormone  membrane raft  positive regulation of protein catabolic process  positive regulation of striated muscle tissue development  regulation of bone remodeling  beta-tubulin binding  blood vessel morphogenesis  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  milk ejection  limb bud formation  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  regulation of atrial cardiac muscle cell action potential  scaffold protein binding  regulation of tight junction assembly  
Ontology : EGO-EBIGolgi membrane  osteoblast differentiation  in utero embryonic development  neuron migration  heart looping  epithelial cell maturation  lens development in camera-type eye  atrial ventricular junction remodeling  signal transducer activity  receptor binding  gap junction channel activity  protein binding  mitochondrial outer membrane  lysosome  early endosome  multivesicular body  endoplasmic reticulum membrane  Golgi apparatus  cytosol  intermediate filament  plasma membrane  plasma membrane  integral to plasma membrane  fascia adherens  gap junction  gap junction  connexon complex  transport  apoptotic process  muscle contraction  signal transduction  cell-cell signaling  heart development  adult heart development  negative regulation of cell proliferation  response to pH  vascular transport  positive regulation of gene expression  negative regulation of gene expression  cell communication by chemical coupling  cell communication by electrical coupling  intercalated disc  intercalated disc  ion transmembrane transporter activity  ATP transport  gap junction assembly  apical plasma membrane  lateral plasma membrane  SH3 domain binding  PDZ domain binding  regulation of bone mineralization  Golgi-associated vesicle membrane  positive regulation of I-kappaB kinase/NF-kappaB cascade  contractile fiber  skeletal muscle tissue regeneration  response to peptide hormone  membrane raft  positive regulation of protein catabolic process  positive regulation of striated muscle tissue development  regulation of bone remodeling  beta-tubulin binding  blood vessel morphogenesis  neuron projection morphogenesis  protein oligomerization  regulation of calcium ion transport  milk ejection  limb bud formation  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  regulation of ventricular cardiac muscle cell membrane depolarization  regulation of atrial cardiac muscle cell action potential  scaffold protein binding  regulation of tight junction assembly  
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
Wikipedia pathwaysGJA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GJA1
snp3D : Map Gene to Disease2697
SNP (GeneSNP Utah)GJA1
SNP : HGBaseGJA1
Genetic variants : HAPMAPGJA1
Exome VariantGJA1
1000_GenomesGJA1 
ICGC programENSG00000152661 
Somatic Mutations in Cancer : COSMICGJA1 
CONAN: Copy Number AnalysisGJA1 
Mutations and Diseases : HGMDGJA1
Genomic VariantsGJA1  GJA1 [DGVbeta]
dbVarGJA1
ClinVarGJA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM121014    164200    186100    234100    241550    257850    600309   
MedgenGJA1
GENETestsGJA1
Disease Genetic AssociationGJA1
Huge Navigator GJA1 [HugePedia]  GJA1 [HugeCancerGEM]
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
PubMed329 Pubmed reference(s) in Entrez
CoreMineGJA1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:57:09 CEST 2014
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