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, CX43, DFNB38, GJAL, HLHS1, HSS, ODDD
Human Chr (Location)		6q21-q23.2; chr6:121756745-121770873 (+)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human GJA1

Alleles and phenotypes

All alleles(59) : Targeted(23) Gene trapped(34) Chemically induced(2)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (106 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: (155 records)
Data Summary: Results (551)    Tissues (427)    Images (76)
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 Type	Results
Immunohistochemistry	178
RNA in situ	244
Northern blot	27
Western blot	4
RT-PCR	21
RNase protection	11
Nuclease S1	66

cDNA source data(360)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(381) Genomic(9) cDNA(363) Primer pair(6) Other(3)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000050953 (Evidence)
Entrez Gene	14609 (Evidence)
UniGene	378921
DFCI	TC1573904, TC1609420, TC1695804, TC1697753, TC1747961, TC1753164
DoTS	DT.101202265, DT.101260712, DT.102536605, DT.102536606, DT.535884, DT.91332685, DT.94172605, DT.94361371, DT.97370709, DT.97384101, DT.99867731
NIA Mouse Gene Index	U011522
Consensus CDS Project	CCDS23851.1
International Mouse Knockout Project Status	Gja1

Sequences

Length	Strain/Species
genomic	14609	NCBI Gene Model | MGI Sequence Detail	13120	C57BL/6J
transcript	NM_010288	RefSeq | MGI Sequence Detail	3105	C57BL/6
polypeptide	P23242	UniProt | EBI | MGI Sequence Detail	382	Not Applicable

All sequences(65) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(81 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194957 Lubkemeier I, et al., Deletion of the last five C-terminal amino acid residues of connexin43 leads to lethal ventricular arrhythmias in mice without affecting coupling via gap junction channels. Basic Res Cardiol. 2013 May;108(3):348
All references(450)

Other accession IDs

MGD-MRK-10079, MGD-MRK-10085, MGI:2143760, MGI:2143856