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GJA1
HPA
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  • GJA1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

GJA1
Synonyms CX43, GJAL, ODD, ODDD, ODOD, SDTY3
Gene descriptioni

Full gene name according to HGNC.

Gap junction protein alpha 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 6
Cytoband q22.31
Chromosome location (bp) 121435595 - 121449727
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

4
Ensembl ENSG00000152661 (version 109)
Entrez gene 2697
HGNC HGNC:4274
UniProt P17302 (UniProt - Evidence at protein level)
neXtProt NX_P17302
GeneCards GJA1
Antibodypedia GJA1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).... show less
Gene summary (Entrez)i

Useful information about the gene from 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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
GJA1-201
ENSP00000282561
ENST00000282561
P17302
[Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3
[Target identity:100%; Query identity:100%] Gap junction protein
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000132 [establishment of mitotic spindle orientation]
GO:0000139 [Golgi membrane]
GO:0003161 [cardiac conduction system development]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexin complex]
GO:0005925 [focal adhesion]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007267 [cell-cell signaling]
GO:0007283 [spermatogenesis]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008104 [protein localization]
GO:0010628 [positive regulation of gene expression]
GO:0010644 [cell communication by electrical coupling]
GO:0014047 [glutamate secretion]
GO:0014704 [intercalated disc]
GO:0015075 [ion transmembrane transporter activity]
GO:0015562 [efflux transmembrane transporter activity]
GO:0015631 [tubulin binding]
GO:0016020 [membrane]
GO:0016264 [gap junction assembly]
GO:0016324 [apical plasma membrane]
GO:0022857 [transmembrane transporter activity]
GO:0030054 [cell junction]
GO:0030308 [negative regulation of cell growth]
GO:0030660 [Golgi-associated vesicle membrane]
GO:0032277 [negative regulation of gonadotropin secretion]
GO:0034220 [ion transmembrane transport]
GO:0034634 [glutathione transmembrane transporter activity]
GO:0034775 [glutathione transmembrane transport]
GO:0035633 [maintenance of blood-brain barrier]
GO:0042908 [xenobiotic transport]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044291 [cell-cell contact zone]
GO:0045121 [membrane raft]
GO:0046849 [bone remodeling]
GO:0055077 [gap junction hemi-channel activity]
GO:0055085 [transmembrane transport]
GO:0060348 [bone development]
GO:0070160 [tight junction]
GO:0070161 [anchoring junction]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0086075 [gap junction channel activity involved in cardiac conduction electrical coupling]
GO:0120162 [positive regulation of cold-induced thermogenesis]
GO:0140115 [export across plasma membrane]
GO:1901164 [negative regulation of trophoblast cell migration]
GO:1903763 [gap junction channel activity involved in cell communication by electrical coupling]
GO:1904646 [cellular response to amyloid-beta]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1905332 [positive regulation of morphogenesis of an epithelium]
GO:1905772 [positive regulation of mesodermal cell differentiation]
GO:2000648 [positive regulation of stem cell proliferation]
Show all
382 aa
43 kDa
No 4
GJA1-202
ENSP00000497565
ENST00000647564
P17302
[Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3
[Target identity:100%; Query identity:100%] Gap junction protein
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000132 [establishment of mitotic spindle orientation]
GO:0000139 [Golgi membrane]
GO:0003161 [cardiac conduction system development]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexin complex]
GO:0005925 [focal adhesion]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007267 [cell-cell signaling]
GO:0007283 [spermatogenesis]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008104 [protein localization]
GO:0010628 [positive regulation of gene expression]
GO:0010644 [cell communication by electrical coupling]
GO:0014047 [glutamate secretion]
GO:0014704 [intercalated disc]
GO:0015075 [ion transmembrane transporter activity]
GO:0015562 [efflux transmembrane transporter activity]
GO:0015631 [tubulin binding]
GO:0016020 [membrane]
GO:0016264 [gap junction assembly]
GO:0016324 [apical plasma membrane]
GO:0022857 [transmembrane transporter activity]
GO:0030054 [cell junction]
GO:0030308 [negative regulation of cell growth]
GO:0030660 [Golgi-associated vesicle membrane]
GO:0032277 [negative regulation of gonadotropin secretion]
GO:0034220 [ion transmembrane transport]
GO:0034634 [glutathione transmembrane transporter activity]
GO:0034775 [glutathione transmembrane transport]
GO:0035633 [maintenance of blood-brain barrier]
GO:0042908 [xenobiotic transport]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044291 [cell-cell contact zone]
GO:0045121 [membrane raft]
GO:0046849 [bone remodeling]
GO:0055077 [gap junction hemi-channel activity]
GO:0055085 [transmembrane transport]
GO:0060348 [bone development]
GO:0070160 [tight junction]
GO:0070161 [anchoring junction]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0086075 [gap junction channel activity involved in cardiac conduction electrical coupling]
GO:0120162 [positive regulation of cold-induced thermogenesis]
GO:0140115 [export across plasma membrane]
GO:1901164 [negative regulation of trophoblast cell migration]
GO:1903763 [gap junction channel activity involved in cell communication by electrical coupling]
GO:1904646 [cellular response to amyloid-beta]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1905332 [positive regulation of morphogenesis of an epithelium]
GO:1905772 [positive regulation of mesodermal cell differentiation]
GO:2000648 [positive regulation of stem cell proliferation]
Show all
382 aa
43 kDa
No 4
GJA1-203
ENSP00000497283
ENST00000649003
P17302
[Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3
[Target identity:100%; Query identity:100%] Gap junction protein
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000132 [establishment of mitotic spindle orientation]
GO:0000139 [Golgi membrane]
GO:0003161 [cardiac conduction system development]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexin complex]
GO:0005925 [focal adhesion]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007267 [cell-cell signaling]
GO:0007283 [spermatogenesis]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008104 [protein localization]
GO:0010628 [positive regulation of gene expression]
GO:0010644 [cell communication by electrical coupling]
GO:0014047 [glutamate secretion]
GO:0014704 [intercalated disc]
GO:0015075 [ion transmembrane transporter activity]
GO:0015562 [efflux transmembrane transporter activity]
GO:0015631 [tubulin binding]
GO:0016020 [membrane]
GO:0016264 [gap junction assembly]
GO:0016324 [apical plasma membrane]
GO:0022857 [transmembrane transporter activity]
GO:0030054 [cell junction]
GO:0030308 [negative regulation of cell growth]
GO:0030660 [Golgi-associated vesicle membrane]
GO:0032277 [negative regulation of gonadotropin secretion]
GO:0034220 [ion transmembrane transport]
GO:0034634 [glutathione transmembrane transporter activity]
GO:0034775 [glutathione transmembrane transport]
GO:0035633 [maintenance of blood-brain barrier]
GO:0042908 [xenobiotic transport]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044291 [cell-cell contact zone]
GO:0045121 [membrane raft]
GO:0046849 [bone remodeling]
GO:0055077 [gap junction hemi-channel activity]
GO:0055085 [transmembrane transport]
GO:0060348 [bone development]
GO:0070160 [tight junction]
GO:0070161 [anchoring junction]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0086075 [gap junction channel activity involved in cardiac conduction electrical coupling]
GO:0120162 [positive regulation of cold-induced thermogenesis]
GO:0140115 [export across plasma membrane]
GO:1901164 [negative regulation of trophoblast cell migration]
GO:1903763 [gap junction channel activity involved in cell communication by electrical coupling]
GO:1904646 [cellular response to amyloid-beta]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1905332 [positive regulation of morphogenesis of an epithelium]
GO:1905772 [positive regulation of mesodermal cell differentiation]
GO:2000648 [positive regulation of stem cell proliferation]
Show all
382 aa
43 kDa
No 4
GJA1-204
ENSP00000497367
ENST00000650427
P17302
[Direct mapping] Gap junction alpha-1 protein
Show all
A0A654IBU3
[Target identity:100%; Query identity:100%] Gap junction protein
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000132 [establishment of mitotic spindle orientation]
GO:0000139 [Golgi membrane]
GO:0003161 [cardiac conduction system development]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexin complex]
GO:0005925 [focal adhesion]
GO:0007154 [cell communication]
GO:0007165 [signal transduction]
GO:0007267 [cell-cell signaling]
GO:0007283 [spermatogenesis]
GO:0007507 [heart development]
GO:0008013 [beta-catenin binding]
GO:0008104 [protein localization]
GO:0010628 [positive regulation of gene expression]
GO:0010644 [cell communication by electrical coupling]
GO:0014047 [glutamate secretion]
GO:0014704 [intercalated disc]
GO:0015075 [ion transmembrane transporter activity]
GO:0015562 [efflux transmembrane transporter activity]
GO:0015631 [tubulin binding]
GO:0016020 [membrane]
GO:0016264 [gap junction assembly]
GO:0016324 [apical plasma membrane]
GO:0022857 [transmembrane transporter activity]
GO:0030054 [cell junction]
GO:0030308 [negative regulation of cell growth]
GO:0030660 [Golgi-associated vesicle membrane]
GO:0032277 [negative regulation of gonadotropin secretion]
GO:0034220 [ion transmembrane transport]
GO:0034634 [glutathione transmembrane transporter activity]
GO:0034775 [glutathione transmembrane transport]
GO:0035633 [maintenance of blood-brain barrier]
GO:0042908 [xenobiotic transport]
GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB signaling]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044291 [cell-cell contact zone]
GO:0045121 [membrane raft]
GO:0046849 [bone remodeling]
GO:0055077 [gap junction hemi-channel activity]
GO:0055085 [transmembrane transport]
GO:0060348 [bone development]
GO:0070160 [tight junction]
GO:0070161 [anchoring junction]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0086075 [gap junction channel activity involved in cardiac conduction electrical coupling]
GO:0120162 [positive regulation of cold-induced thermogenesis]
GO:0140115 [export across plasma membrane]
GO:1901164 [negative regulation of trophoblast cell migration]
GO:1903763 [gap junction channel activity involved in cell communication by electrical coupling]
GO:1904646 [cellular response to amyloid-beta]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1905332 [positive regulation of morphogenesis of an epithelium]
GO:1905772 [positive regulation of mesodermal cell differentiation]
GO:2000648 [positive regulation of stem cell proliferation]
Show all
382 aa
43 kDa
No 4

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