About   Help   FAQ
Gja1
Gene Detail
 Symbol
Name
ID
Gja1
gap junction protein, alpha 1
MGI:95713
STS D10Mit88
Synonyms alpha 1 connexin, connexin43, connexin 43, Cx43, Cx43alpha1, Gja-1
Feature Type protein coding gene
Genetic Map
Chromosome 10
28.64 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr10:56377300-56390419 bp, + strand
From NCBI annotation of GRCm38

  13120 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:136  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Gja1

Human
homologs
Human Homolog GJA1, gap junction protein, alpha 1, 43kDa
NCBI Gene ID 2697
neXtProt AC  NX_P17302
Human Synonyms  AVSD3, CMDR, CX43, GJAL, HLHS1, HSS, ODDD
Human Chr (Location)  6q22.31; chr6:121435599-121449727 (+)  GRCh38
Disease Associations  (6) Diseases Associated with Human GJA1
Mutations,
alleles, and
phenotypes
All mutations/alleles(58) : Chemically induced (ENU)(2) Gene trapped(33) Targeted(23)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects.
 
Human Diseases Modeled Using Mouse Gja1 (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(10)
Interactions
Gja1 interacts with 250 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (114 annotations)
Process adult heart development, apoptotic process, ...
Component apical plasma membrane, cell-cell junction, ...
Function beta-tubulin binding, connexin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (159 records)
Data Summary: Results (554)    Tissues (428)    Images (79)
Theiler Stages: 1, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 179
RNA in situ 244
Northern blot 27
Western blot 4
RT-PCR 23
RNase protection 11
Nuclease S1 66
cDNA source data(361)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(383) Genomic(9) cDNA(364) Primer pair(7) Other(3)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000050953 (Evidence)
Entrez Gene14609 (Evidence)
UniGene378921
DFCITC1573904, TC1609420, TC1695804, TC1697753, TC1747961, TC1753164
DoTSDT.101202265, DT.101260712, DT.102536605, DT.102536606, DT.535884, DT.91332685, DT.94172605, DT.94361371, DT.97370709, DT.97384101, DT.99867731
NIA Mouse Gene IndexU011522
Consensus CDS ProjectCCDS23851.1
International Mouse Knockout Project StatusGja1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14609 NCBI Gene Model | MGI Sequence Detail 13120 C57BL/6J ±  kb
transcript NM_010288 RefSeq | MGI Sequence Detail 3105 C57BL/6 
polypeptide P23242 UniProt | EBI | MGI Sequence Detail 382 Not Applicable 

For the selected sequences
All sequences(67) RefSeq(4) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(100 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002261 Gap junction alpha-1 protein (Cx43)
InterPro IPR013124 Gap junction alpha-1 protein (Cx43), C-terminal
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000008373 gap junction alpha-1 protein
Graphical View of Protein Domain Structure
References (Earliest) J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
(Latest) J:208385 Huang T, et al., Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. Biochem J. 2014 Feb 1;457(3):441-9
All references(478)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-10079, MGD-MRK-10085, MGI:2143760, MGI:2143856

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/12/2014
MGI 5.19
The Jackson Laboratory