Endometriosis Knowledgebase

Search Result

Gene id

2697

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GJA1 Gene UCSC Ensembl

Aliases

AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA

Gene name

gap junction protein alpha 1

Alternate names

gap junction alpha-1 protein, connexin-43, gap junction 43 kDa heart protein, gap junction protein, alpha 1, 43kDa,

Gene location

6q22.31 (121435576: 121449743) Exons: 2 NC_000006.12

Gene summary(Entrez)

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

OMIM

121014

Protein Summary

Protein general information

P17302

Name: Gap junction alpha 1 protein (Connexin 43) (Cx43) (Gap junction 43 kDa heart protein)

Length: 382 Mass: 43,008

Tissue specificity: Expressed in the heart and fetal cochlea. {ECO

Sequence

MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHV
RFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGG
LLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNI
IELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRP
RPDDLEI

Structural information

Interpro:	IPR000500 IPR002261 IPR013124 IPR034634 IPR019570 IPR017990 IPR013092
Prosite:	PS00407 PS00408
Pfam:	PF00029 PF03508
PDB:	2LL2
PDBsum:	2LL2
MINT:	147603
STRING:	ENSP00000282561;

Other Databases

GeneCards: GJA1; Malacards: GJA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0001947	heart looping	IEA	biological_process
GO:0002027	regulation of heart rate	IEA	biological_process
GO:0002070	epithelial cell maturatio n	IEA	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0002544	chronic inflammatory resp onse	IEA	biological_process
GO:0003104	positive regulation of gl omerular filtration	IEA	biological_process
GO:0003158	endothelium development	IEA	biological_process
GO:0003294	atrial ventricular juncti on remodeling	IEA	biological_process
GO:0004871	signal transducer activit y	IMP	molecular_function
GO:0004871	signal transducer activit y	IDA	molecular_function
GO:0005102	receptor binding	IEA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005741	mitochondrial outer membr ane	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005769	early endosome	IEA	cellular_component
GO:0005771	multivesicular body	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005882	intermediate filament	IEA	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005916	fascia adherens	IEA	cellular_component
GO:0005921	gap junction	ISS	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005922	connexin complex	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0007165	signal transduction	IDA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0007507	heart development	TAS	biological_process
GO:0007512	adult heart development	IEA	biological_process
GO:0009268	response to pH	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0010232	vascular transport	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010643	cell communication by che mical coupling	IEA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010652	positive regulation of ce ll communication by chemi cal coupling	IEA	biological_process
GO:0014704	intercalated disc	ISS	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0015075	ion transmembrane transpo rter activity	IDA	molecular_function
GO:0015867	ATP transport	IEA	biological_process
GO:0016264	gap junction assembly	TAS	biological_process
GO:0016264	gap junction assembly	TAS	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0017124	SH3 domain binding	IEA	molecular_function
GO:0030165	PDZ domain binding	IEA	molecular_function
GO:0030308	negative regulation of ce ll growth	ISS	biological_process
GO:0030500	regulation of bone minera lization	IEA	biological_process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0032024	positive regulation of in sulin secretion	IEA	biological_process
GO:0034220	ion transmembrane transpo rt	IDA	biological_process
GO:0034405	response to fluid shear s tress	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0043292	contractile fiber	IEA	cellular_component
GO:0043403	skeletal muscle tissue re generation	IEA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0045121	membrane raft	ISS	cellular_component
GO:0045669	positive regulation of os teoblast differentiation	IEA	biological_process
GO:0045732	positive regulation of pr otein catabolic process	IEA	biological_process
GO:0045844	positive regulation of st riated muscle tissue deve lopment	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IEA	biological_process
GO:0045909	positive regulation of va sodilation	IEA	biological_process
GO:0046850	regulation of bone remode ling	IEA	biological_process
GO:0048487	beta-tubulin binding	IEA	molecular_function
GO:0048514	blood vessel morphogenesi s	IEA	biological_process
GO:0048812	neuron projection morphog enesis	IEA	biological_process
GO:0051259	protein oligomerization	IEA	biological_process
GO:0051924	regulation of calcium ion transport	IEA	biological_process
GO:0060044	negative regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060156	milk ejection reflex	IEA	biological_process
GO:0060307	regulation of ventricular cardiac muscle cell memb rane repolarization	IEA	biological_process
GO:0060371	regulation of atrial card iac muscle cell membrane depolarization	IEA	biological_process
GO:0060373	regulation of ventricular cardiac muscle cell memb rane depolarization	IEA	biological_process
GO:0061045	negative regulation of wo und healing	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071253	connexin binding	IEA	molecular_function
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0086014	atrial cardiac muscle cel l action potential	TAS	biological_process
GO:0086064	cell communication by ele ctrical coupling involved in cardiac conduction	NAS	biological_process
GO:0086075	gap junction channel acti vity involved in cardiac conduction electrical cou pling	NAS	molecular_function
GO:0097110	scaffold protein binding	IEA	molecular_function
GO:1903763	gap junction channel acti vity involved in cell com munication by electrical coupling	IDA	molecular_function
GO:2000279	negative regulation of DN A biosynthetic process	IEA	biological_process
GO:2000810	regulation of bicellular tight junction assembly	IEA	biological_process
GO:2000987	positive regulation of be havioral fear response	IEA	biological_process
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001937	negative regulation of en dothelial cell proliferat ion	IEA	biological_process
GO:0001947	heart looping	IEA	biological_process
GO:0002027	regulation of heart rate	IEA	biological_process
GO:0002070	epithelial cell maturatio n	IEA	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0002544	chronic inflammatory resp onse	IEA	biological_process
GO:0003104	positive regulation of gl omerular filtration	IEA	biological_process
GO:0003158	endothelium development	IEA	biological_process
GO:0003294	atrial ventricular juncti on remodeling	IEA	biological_process
GO:0004871	signal transducer activit y	IMP	molecular_function
GO:0004871	signal transducer activit y	IDA	molecular_function
GO:0005102	receptor binding	IEA	molecular_function
GO:0005243	gap junction channel acti vity	IEA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005741	mitochondrial outer membr ane	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005769	early endosome	IEA	cellular_component
GO:0005770	late endosome	IEA	cellular_component
GO:0005771	multivesicular body	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005882	intermediate filament	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0005916	fascia adherens	IEA	cellular_component
GO:0005921	gap junction	IEA	cellular_component
GO:0005921	gap junction	ISS	cellular_component
GO:0005921	gap junction	IEA	cellular_component
GO:0005921	gap junction	IEA	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005922	connexin complex	IEA	cellular_component
GO:0005922	connexin complex	IEA	cellular_component
GO:0005922	connexin complex	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0007154	cell communication	IEA	biological_process
GO:0007154	cell communication	IEA	biological_process
GO:0007165	signal transduction	IDA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007267	cell-cell signaling	IEA	biological_process
GO:0007267	cell-cell signaling	IEA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007507	heart development	TAS	biological_process
GO:0007512	adult heart development	IEA	biological_process
GO:0008016	regulation of heart contr action	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0009268	response to pH	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0010232	vascular transport	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010643	cell communication by che mical coupling	IEA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IEA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010652	positive regulation of ce ll communication by chemi cal coupling	IEA	biological_process
GO:0014704	intercalated disc	IEA	cellular_component
GO:0014704	intercalated disc	ISS	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0015075	ion transmembrane transpo rter activity	IDA	molecular_function
GO:0015867	ATP transport	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016264	gap junction assembly	TAS	biological_process
GO:0016264	gap junction assembly	TAS	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0017124	SH3 domain binding	IEA	molecular_function
GO:0019904	protein domain specific b inding	IEA	molecular_function
GO:0022857	transmembrane transporter activity	IEA	molecular_function
GO:0030054	cell junction	IEA	cellular_component
GO:0030054	cell junction	IEA	cellular_component
GO:0030165	PDZ domain binding	IEA	molecular_function
GO:0030308	negative regulation of ce ll growth	IEA	biological_process
GO:0030308	negative regulation of ce ll growth	ISS	biological_process
GO:0030500	regulation of bone minera lization	IEA	biological_process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0032024	positive regulation of in sulin secretion	IEA	biological_process
GO:0034220	ion transmembrane transpo rt	IDA	biological_process
GO:0034405	response to fluid shear s tress	IEA	biological_process
GO:0035050	embryonic heart tube deve lopment	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0043292	contractile fiber	IEA	cellular_component
GO:0043403	skeletal muscle tissue re generation	IEA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0045121	membrane raft	IEA	cellular_component
GO:0045121	membrane raft	ISS	cellular_component
GO:0045216	cell-cell junction organi zation	IEA	biological_process
GO:0045669	positive regulation of os teoblast differentiation	IEA	biological_process
GO:0045732	positive regulation of pr otein catabolic process	IEA	biological_process
GO:0045844	positive regulation of st riated muscle tissue deve lopment	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IEA	biological_process
GO:0045909	positive regulation of va sodilation	IEA	biological_process
GO:0046850	regulation of bone remode ling	IEA	biological_process
GO:0048487	beta-tubulin binding	IEA	molecular_function
GO:0048514	blood vessel morphogenesi s	IEA	biological_process
GO:0048812	neuron projection morphog enesis	IEA	biological_process
GO:0051259	protein oligomerization	IEA	biological_process
GO:0051924	regulation of calcium ion transport	IEA	biological_process
GO:0055085	transmembrane transport	IEA	biological_process
GO:0060044	negative regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060156	milk ejection reflex	IEA	biological_process
GO:0060307	regulation of ventricular cardiac muscle cell memb rane repolarization	IEA	biological_process
GO:0060371	regulation of atrial card iac muscle cell membrane depolarization	IEA	biological_process
GO:0060373	regulation of ventricular cardiac muscle cell memb rane depolarization	IEA	biological_process
GO:0061045	negative regulation of wo und healing	IEA	biological_process
GO:0061337	cardiac conduction	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071253	connexin binding	IEA	molecular_function
GO:0071260	cellular response to mech anical stimulus	IEA	biological_process
GO:0086014	atrial cardiac muscle cel l action potential	TAS	biological_process
GO:0086064	cell communication by ele ctrical coupling involved in cardiac conduction	NAS	biological_process
GO:0086075	gap junction channel acti vity involved in cardiac conduction electrical cou pling	NAS	molecular_function
GO:0097110	scaffold protein binding	IEA	molecular_function
GO:1903763	gap junction channel acti vity involved in cell com munication by electrical coupling	IDA	molecular_function
GO:2000279	negative regulation of DN A biosynthetic process	IEA	biological_process
GO:2000810	regulation of bicellular tight junction assembly	IEA	biological_process
GO:2000987	positive regulation of be havioral fear response	IEA	biological_process
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0004871	signal transducer activit y	IMP	molecular_function
GO:0004871	signal transducer activit y	IDA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005243	gap junction channel acti vity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005921	gap junction	ISS	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005921	gap junction	IDA	cellular_component
GO:0005922	connexin complex	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006936	muscle contraction	TAS	biological_process
GO:0007165	signal transduction	IDA	biological_process
GO:0007267	cell-cell signaling	IDA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007507	heart development	TAS	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0010644	cell communication by ele ctrical coupling	IDA	biological_process
GO:0014704	intercalated disc	ISS	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0014704	intercalated disc	IDA	cellular_component
GO:0015075	ion transmembrane transpo rter activity	IDA	molecular_function
GO:0016264	gap junction assembly	TAS	biological_process
GO:0016264	gap junction assembly	TAS	biological_process
GO:0030308	negative regulation of ce ll growth	ISS	biological_process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0034220	ion transmembrane transpo rt	IDA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IMP	biological_process
GO:0045121	membrane raft	ISS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0086014	atrial cardiac muscle cel l action potential	TAS	biological_process
GO:0086064	cell communication by ele ctrical coupling involved in cardiac conduction	NAS	biological_process
GO:0086075	gap junction channel acti vity involved in cardiac conduction electrical cou pling	NAS	molecular_function
GO:1903763	gap junction channel acti vity involved in cell com munication by electrical coupling	IDA	molecular_function

KEGG pathways

hsa04540 Gap junction
hsa05412 Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Adenomyosis	PMID: 21176558
Atrioventricular septal defect	KEGG: H00547, OMIM: 121014
Azoospermia	PMID: 22611165
Craniometaphyseal dysplasia	OMIM: 121014
Endometriosis	PMID: 24270393
febrile seizures	PMID: 19854014
Hearing loss	PMID: 19027966
Hypoplastic left heart syndrome	KEGG: H01272, OMIM: 121014
Non-syndromic deafness	PMID: 11741837
Oculodentodigital dysplasia	KEGG: H00449
Presbycusis	PMID: 18988928
Endometriosis	INFBASE24270393
Primary seminiferous tubule�failure	PMID: 23706332
Syndactyly	KEGG: H01095, OMIM: 121014

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24270393	Endometrio sis			30 (15 endometr iosis cases, 15 controls)			Show abstract