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

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

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

Identity

Other names	AVSD3
	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 DataPortal	ENSG00000152661
cBioPortal	GJA1
AceView (NCBI)	GJA1
Genatlas (Paris)	GJA1
WikiGenes	2697
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)
Ensembl	GJA1 - 6q22.31 [CytoView hg19] GJA1 - 6q22.31 [CytoView hg38]
Mapping of homologs : NCBI	GJA1 [Mapview hg19] GJA1 [Mapview hg38]
OMIM	121014 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 : Unigene	Hs.700699 [ NCBI ]
CGAP (NCI)	Hs.700699
Alternative Splicing : Fast-db (Paris)	GSHG0026001
Alternative Splicing Gallery	ENSG00000152661
Gene Expression	GJA1 [ NCBI-GEO ] GJA1 [ SEEK ] GJA1 [ MEM ]
SOURCE (Princeton)	Expression in : [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P17302 (Uniprot)
NextProt	P17302 [Medical]
With graphics : InterPro	P17302
Splice isoforms : SwissVar	P17302 (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 : CluSTr	P17302
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 mutations	2697
Blocks (Seattle)	P17302
PDB (SRS)	2LL2
PDB (PDBSum)	2LL2
PDB (IMB)	2LL2
PDB (RSDB)	2LL2
Human Protein Atlas	ENSG00000152661
Peptide Atlas	P17302
HPRD	00414
IPI	IPI00218487 IPI00940619
	Protein Interaction databases
DIP (DOE-UCLA)	P17302
IntAct (EBI)	P17302
FunCoup	ENSG00000152661
BioGRID	GJA1
IntegromeDB	GJA1
STRING (EMBL)	GJA1
	Ontologies - Pathways
QuickGO	P17302
Ontology : AmiGO	Golgi 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-EBI	Golgi 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 : BIOCARTA	Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]
Pathways : KEGG	Gap junction Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Protein Interaction Database	GJA1
DoCM (Curated mutations)	GJA1
Wikipedia pathways	GJA1
	Gene fusion - rearrangements
	Polymorphisms : SNP, variants
NCBI Variation Viewer	GJA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	GJA1
dbVar	GJA1
ClinVar	GJA1
1000_Genomes	GJA1
Exome Variant Server	GJA1
SNP (GeneSNP Utah)	GJA1
SNP : HGBase	GJA1
Genetic variants : HAPMAP	GJA1
Genomic Variants (DGV)	GJA1 [DGVbeta]
	Mutations
ICGC Data Portal	ENSG00000152661
Somatic Mutations in Cancer : COSMIC	GJA1
CONAN: Copy Number Analysis	GJA1
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 : HGMD	GJA1
OMIM	121014 164200 186100 218400 241550 257850 600309
Medgen	GJA1
NextProt	P17302 [Medical]
GENETests	GJA1
Disease Genetic Association	GJA1
Huge Navigator	GJA1 [HugePedia] GJA1 [HugeCancerGEM]
snp3D : Map Gene to Disease	2697
DGIdb (Drug Gene Interaction db)	GJA1
	General knowledge
Homologs : HomoloGene	GJA1
Homology/Alignments : Family Browser (UCSC)	GJA1
Phylogenetic Trees/Animal Genes : TreeFam	GJA1
Chemical/Protein Interactions : CTD	2697
Chemical/Pharm GKB Gene	PA28685
Clinical trial	GJA1
Cancer Resource (Charite)	ENSG00000152661
	Other databases
	Probes
	Litterature
PubMed	351 Pubmed reference(s) in Entrez
CoreMine	GJA1
GoPubMed	GJA1
iHOP	GJA1

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2014	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Feb 14 16:00:50 CET 2015

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jlhuret@AtlasGeneticsOncology.org.