UniProtKB - P36382 (CXA5_HUMAN)
Protein
Gap junction alpha-5 protein
Gene
GJA5
Organism
Homo sapiens (Human)
Status
Functioni
One 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.
GO - Molecular functioni
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
- gap junction channel activity Source: GO_Central
- gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling Source: BHF-UCL
- gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling Source: BHF-UCL
- gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling Source: BHF-UCL
- gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCL
- gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling Source: BHF-UCL
- gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling Source: BHF-UCL
- gap junction hemi-channel activity Source: BHF-UCL
GO - Biological processi
- angiogenesis Source: UniProtKB
- artery morphogenesis Source: BHF-UCL
- atrial cardiac muscle cell to AV node cell communication by electrical coupling Source: BHF-UCL
- atrial septum development Source: BHF-UCL
- atrial septum morphogenesis Source: Ensembl
- atrial ventricular junction remodeling Source: Ensembl
- AV node cell to bundle of His cell communication by electrical coupling Source: BHF-UCL
- bundle of His cell to Purkinje myocyte communication by electrical coupling Source: BHF-UCL
- cardiac conduction system development Source: Ensembl
- cell-cell signaling Source: GO_Central
- cell communication by chemical coupling Source: Ensembl
- cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
- embryonic heart tube development Source: Ensembl
- embryonic limb morphogenesis Source: Ensembl
- endothelium development Source: Ensembl
- foramen ovale closure Source: Ensembl
- gap junction assembly Source: BHF-UCL
- mitral valve development Source: BHF-UCL
- negative regulation of blood pressure Source: Ensembl
- negative regulation of glomerular filtration Source: Ensembl
- outflow tract morphogenesis Source: BHF-UCL
- positive regulation of blood vessel diameter Source: Ensembl
- positive regulation of cell communication by chemical coupling Source: Ensembl
- positive regulation of vasoconstriction Source: Ensembl
- potassium ion transport Source: Ensembl
- pulmonary valve formation Source: BHF-UCL
- Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling Source: BHF-UCL
- regulation of atrial cardiac muscle cell action potential Source: BHF-UCL
- regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
- regulation of AV node cell action potential Source: BHF-UCL
- regulation of bundle of His cell action potential Source: BHF-UCL
- regulation of cardiac muscle contraction Source: BHF-UCL
- regulation of cell communication by electrical coupling Source: Ensembl
- regulation of heart rate by cardiac conduction Source: Ensembl
- regulation of membrane depolarization during cardiac muscle cell action potential Source: Ensembl
- regulation of Purkinje myocyte action potential Source: BHF-UCL
- regulation of renin secretion into blood stream Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane repolarization Source: Ensembl
- SA node cell action potential Source: Ensembl
- SA node cell to atrial cardiac muscle cell communication by electrical coupling Source: BHF-UCL
- septum primum development Source: Ensembl
- skeletal system development Source: Ensembl
- vasomotion Source: Ensembl
- ventricular cardiac muscle cell action potential Source: Ensembl
- ventricular septum development Source: BHF-UCL
- ventricular septum morphogenesis Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | P36382 |
Reactomei | R-HSA-190861, Gap junction assembly |
SIGNORi | P36382 |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction alpha-5 proteinAlternative name(s): Connexin-40 Short name: Cx40 |
Gene namesi | Name:GJA5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000265107.2 |
HGNCi | HGNC:4279, GJA5 |
MIMi | 121013, gene |
neXtProti | NX_P36382 |
Subcellular locationi
Plasma membrane
Other locations
Plasma Membrane
- connexin complex Source: BHF-UCL
- integral component of plasma membrane Source: BHF-UCL
Other locations
- cell projection Source: Ensembl
- gap junction Source: BHF-UCL
- intercalated disc Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 19 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 20 – 40 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 41 – 76 | ExtracellularSequence analysisAdd BLAST | 36 | |
Transmembranei | 77 – 97 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 98 – 164 | CytoplasmicSequence analysisAdd BLAST | 67 | |
Transmembranei | 165 – 185 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 186 – 205 | ExtracellularSequence analysisAdd BLAST | 20 | |
Transmembranei | 206 – 226 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 227 – 358 | CytoplasmicSequence analysisAdd BLAST | 132 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Atrial standstill 1 (ATRST1)1 Publication
The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill.
Disease descriptionA rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035013 | 88 | P → S in ATRST1; somatic. 1 PublicationCorresponds to variant dbSNP:rs121434558EnsemblClinVar. | 1 | |
Natural variantiVAR_035014 | 96 | A → S in ATRST1. 1 PublicationCorresponds to variant dbSNP:rs121434557EnsemblClinVar. | 1 |
Atrial fibrillation, familial, 11 (ATFB11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066249 | 85 | V → I in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906613EnsemblClinVar. | 1 | |
Natural variantiVAR_066250 | 221 | L → I in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906614EnsemblClinVar. | 1 | |
Natural variantiVAR_066251 | 229 | L → M in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906615EnsemblClinVar. | 1 |
Keywords - Diseasei
Atrial fibrillation, Cardiomyopathy, Disease mutationOrganism-specific databases
DisGeNETi | 2702 |
GeneReviewsi | GJA5 |
MalaCardsi | GJA5 |
MIMi | 108770, phenotype 614049, phenotype |
OpenTargetsi | ENSG00000265107 |
Orphaneti | 334, Familial atrial fibrillation 3303, Tetralogy of Fallot |
PharmGKBi | PA28690 |
Miscellaneous databases
Pharosi | P36382, Tbio |
Polymorphism and mutation databases
BioMutai | GJA5 |
DMDMi | 8928556 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057819 | 1 – 358 | Gap junction alpha-5 proteinAdd BLAST | 358 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 353 | PhosphoserineBy similarity | 1 | |
Modified residuei | 357 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | P36382 |
PaxDbi | P36382 |
PeptideAtlasi | P36382 |
PRIDEi | P36382 |
ProteomicsDBi | 55180 |
PTM databases
iPTMneti | P36382 |
PhosphoSitePlusi | P36382 |
Expressioni
Gene expression databases
Bgeei | ENSG00000265107, Expressed in placenta and 163 other tissues |
ExpressionAtlasi | P36382, baseline and differential |
Genevisiblei | P36382, HS |
Organism-specific databases
HPAi | ENSG00000265107, Tissue enriched (placenta) |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins.
Binary interactionsi
Hide detailsP36382
GO - Molecular functioni
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108969, 35 interactors |
IntActi | P36382, 30 interactors |
STRINGi | 9606.ENSP00000484552 |
Miscellaneous databases
RNActi | P36382, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QW11, Eukaryota |
GeneTreei | ENSGT01000000214463 |
HOGENOMi | CLU_037388_0_0_1 |
InParanoidi | P36382 |
OMAi | LYVCKAW |
OrthoDBi | 992551at2759 |
PhylomeDBi | P36382 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002264, Connexin40 IPR034634, Connexin_C IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf IPR031862, Cx40_C |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF13, PTHR11984:SF13, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF16791, Connexin40_C, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01135, CONNEXINA5 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
SUPFAMi | SSF118220, SSF118220, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P36382-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA
60 70 80 90 100
DFRCDTIQPG CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV
110 120 130 140 150
RMQEKRKLRE AERAKEVRGS GSYEYPVAEK AELSCWEEGN GRIALQGTLL
160 170 180 190 200
NTYVCSILIR TTMEVGFIVG QYFIYGIFLT TLHVCRRSPC PHPVNCYVSR
210 220 230 240 250
PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK PRQHMAKCQL
260 270 280 290 300
SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ
310 320 330 340 350
VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK
ARSDDLSV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0B4J1Y3 | A0A0B4J1Y3_HUMAN | Gap junction protein | GJA5 | 251 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066249 | 85 | V → I in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906613EnsemblClinVar. | 1 | |
Natural variantiVAR_035013 | 88 | P → S in ATRST1; somatic. 1 PublicationCorresponds to variant dbSNP:rs121434558EnsemblClinVar. | 1 | |
Natural variantiVAR_035014 | 96 | A → S in ATRST1. 1 PublicationCorresponds to variant dbSNP:rs121434557EnsemblClinVar. | 1 | |
Natural variantiVAR_066250 | 221 | L → I in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906614EnsemblClinVar. | 1 | |
Natural variantiVAR_066251 | 229 | L → M in ATFB11. 1 PublicationCorresponds to variant dbSNP:rs387906615EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U03486 Genomic DNA Translation: AAA60457.2 L34954 Genomic DNA Translation: AAA91833.1 AF151979 Genomic DNA Translation: AAD37801.1 BT019415 mRNA Translation: AAV38222.1 BT019416 mRNA Translation: AAV38223.1 AL365260 Genomic DNA Translation: CAI14124.1 AL365260 Genomic DNA Translation: CAI14125.1 BC013313 mRNA Translation: AAH13313.1 |
CCDSi | CCDS929.1 |
PIRi | I38429 |
RefSeqi | NP_005257.2, NM_005266.6 NP_859054.1, NM_181703.3 XP_005273008.1, XM_005272951.4 XP_016856533.1, XM_017001044.1 |
Genome annotation databases
Ensembli | ENST00000579774; ENSP00000463851; ENSG00000265107 ENST00000621517; ENSP00000484552; ENSG00000265107 |
GeneIDi | 2702 |
KEGGi | hsa:2702 |
UCSCi | uc057kfi.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U03486 Genomic DNA Translation: AAA60457.2 L34954 Genomic DNA Translation: AAA91833.1 AF151979 Genomic DNA Translation: AAD37801.1 BT019415 mRNA Translation: AAV38222.1 BT019416 mRNA Translation: AAV38223.1 AL365260 Genomic DNA Translation: CAI14124.1 AL365260 Genomic DNA Translation: CAI14125.1 BC013313 mRNA Translation: AAH13313.1 |
CCDSi | CCDS929.1 |
PIRi | I38429 |
RefSeqi | NP_005257.2, NM_005266.6 NP_859054.1, NM_181703.3 XP_005273008.1, XM_005272951.4 XP_016856533.1, XM_017001044.1 |
3D structure databases
SMRi | P36382 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108969, 35 interactors |
IntActi | P36382, 30 interactors |
STRINGi | 9606.ENSP00000484552 |
PTM databases
iPTMneti | P36382 |
PhosphoSitePlusi | P36382 |
Polymorphism and mutation databases
BioMutai | GJA5 |
DMDMi | 8928556 |
Proteomic databases
MassIVEi | P36382 |
PaxDbi | P36382 |
PeptideAtlasi | P36382 |
PRIDEi | P36382 |
ProteomicsDBi | 55180 |
Protocols and materials databases
Antibodypediai | 72405, 287 antibodies |
DNASUi | 2702 |
Genome annotation databases
Ensembli | ENST00000579774; ENSP00000463851; ENSG00000265107 ENST00000621517; ENSP00000484552; ENSG00000265107 |
GeneIDi | 2702 |
KEGGi | hsa:2702 |
UCSCi | uc057kfi.1, human |
Organism-specific databases
CTDi | 2702 |
DisGeNETi | 2702 |
EuPathDBi | HostDB:ENSG00000265107.2 |
GeneCardsi | GJA5 |
GeneReviewsi | GJA5 |
HGNCi | HGNC:4279, GJA5 |
HPAi | ENSG00000265107, Tissue enriched (placenta) |
MalaCardsi | GJA5 |
MIMi | 108770, phenotype 121013, gene 614049, phenotype |
neXtProti | NX_P36382 |
OpenTargetsi | ENSG00000265107 |
Orphaneti | 334, Familial atrial fibrillation 3303, Tetralogy of Fallot |
PharmGKBi | PA28690 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QW11, Eukaryota |
GeneTreei | ENSGT01000000214463 |
HOGENOMi | CLU_037388_0_0_1 |
InParanoidi | P36382 |
OMAi | LYVCKAW |
OrthoDBi | 992551at2759 |
PhylomeDBi | P36382 |
TreeFami | TF329606 |
Enzyme and pathway databases
PathwayCommonsi | P36382 |
Reactomei | R-HSA-190861, Gap junction assembly |
SIGNORi | P36382 |
Miscellaneous databases
BioGRID-ORCSi | 2702, 6 hits in 843 CRISPR screens |
ChiTaRSi | GJA5, human |
GeneWikii | GJA5 |
GenomeRNAii | 2702 |
Pharosi | P36382, Tbio |
PROi | PR:P36382 |
RNActi | P36382, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000265107, Expressed in placenta and 163 other tissues |
ExpressionAtlasi | P36382, baseline and differential |
Genevisiblei | P36382, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002264, Connexin40 IPR034634, Connexin_C IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf IPR031862, Cx40_C |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF13, PTHR11984:SF13, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF16791, Connexin40_C, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01135, CONNEXINA5 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
SUPFAMi | SSF118220, SSF118220, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CXA5_HUMAN | |
Accessioni | P36382Primary (citable) accession number: P36382 Secondary accession number(s): Q5T3B6, Q5U0N6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 188 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations