GJA5

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 involved in atrial cardiac muscle cell-AV node cell electrical coupling
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
Source: BHF-UCL
Inferred from direct assayⁱ
- 22247482
gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22247482
gap junction channel activity involved in cardiac conduction electrical coupling
Source: BHF-UCL
Inferred from direct assayⁱ
- 23348765
gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling
Source: BHF-UCL
Non-traceable author statementⁱ
- 15044680
gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling
Source: BHF-UCL
Non-traceable author statementⁱ
- 15044680
- 21357845
gap junction hemi-channel activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 23348765

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

angiogenesis
Source: UniProtKB
Inferred from expression patternⁱ
- 11866539
artery morphogenesis Source: BHF-UCL
atrial cardiac muscle cell to AV node cell communication by electrical coupling
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
atrial septum development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22199024
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
Inferred from mutant phenotypeⁱ
- 22247482
bundle of His cell to Purkinje myocyte communication by electrical coupling
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22247482
cardiac conduction system development Source: Ensembl
cell communication by chemical coupling Source: Ensembl
cell communication by electrical coupling involved in cardiac conduction
Source: BHF-UCL
Inferred from direct assayⁱ
- 16790700
- 23348765
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
Inferred from direct assayⁱ
- 22247482
mitral valve development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22199024
negative regulation of blood pressure Source: Ensembl
negative regulation of glomerular filtration Source: Ensembl
outflow tract morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22199024
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
protein complex oligomerization Source: Ensembl
pulmonary valve formation
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22199024
Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling
Source: BHF-UCL
Non-traceable author statementⁱ
- 15044680
regulation of atrial cardiac muscle cell action potential
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 23348765
regulation of atrial cardiac muscle cell membrane depolarization
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22247482
- 23348765
regulation of AV node cell action potential
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22247482
regulation of bundle of His cell action potential
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 22247482
regulation of cardiac muscle contraction
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
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
Inferred from mutant phenotypeⁱ
- 22247482
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
Non-traceable author statementⁱ
- 15044680
- 21357845
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
Inferred from mutant phenotypeⁱ
- 22199024
ventricular septum morphogenesis Source: Ensembl

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-190861 Gap junction assembly
SIGNORⁱ	P36382

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Gap junction alpha-5 protein Alternative name(s): Connexin-40 Short name: Cx40
Gene namesⁱ	Name:GJA5
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000265107.2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4279 GJA5
MIMⁱ	121013 gene
neXtProtⁱ	NX_P36382

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & 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.

Feature 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.

Keywords - Diseaseⁱ

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2702
MalaCards human disease database More...MalaCardsⁱ	GJA5
MIMⁱ	108770 phenotype 614049 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000265107
Orphanetⁱ	334 Familial atrial fibrillation 3303 Tetralogy of Fallot
PharmGKBⁱ	PA28690

Polymorphism and mutation databases

DMDMⁱ	8928556

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

Phosphoprotein

Proteomic databases

PaxDbⁱ	P36382
PeptideAtlas More...PeptideAtlasⁱ	P36382
PRIDEⁱ	P36382
ProteomicsDBⁱ	55180

PTM databases

iPTMnetⁱ	P36382
PhosphoSitePlusⁱ	P36382

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000265107 Expressed in 147 organ(s), highest expression level in placenta
CleanExⁱ	HS_GJA5
ExpressionAtlasⁱ	P36382 baseline and differential
Genevisibleⁱ	P36382 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB013080

HPAⁱ

CAB013080

Interactionⁱ

Subunit structureⁱ

A connexon is composed of a hexamer of connexins.

GO - Molecular functionⁱ

connexin binding Source: Ensembl
disordered domain specific binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108969, 6 interactors
IntActⁱ	P36382, 23 interactors
STRINGⁱ	9606.ENSP00000271348

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P36382
SMRⁱ	P36382
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the connexin family. Alpha-type (group II) subfamily.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	ENOG410IF3Z Eukaryota ENOG410ZC96 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000143998
HOGENOMⁱ	HOG000231127
HOVERGENⁱ	HBG009576
InParanoidⁱ	P36382
KEGG Orthology (KO) More...KOⁱ	K07614
OMAⁱ	YLLYGIF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0FKH
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
Pfam protein domain database More...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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.ⁱShow all

P36382-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:358

Mass (Da):40,380

Last modified:January 23, 2007 - v3

Checksum:ⁱDE9DD863C130229A

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation
	A0A0B4J1Y3	A0A0B4J1Y3_HUMAN		Gap junction protein Gap junction protein	GJA5	251	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS929.1
PIRⁱ	I38429
NCBI Reference Sequences More...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
UniGeneⁱ	Hs.447968

Genome annotation databases

Ensemblⁱ	ENST00000579774; ENSP00000463851; ENSG00000265107 ENST00000621517; ENSP00000484552; ENSG00000265107
GeneIDⁱ	2702
KEGGⁱ	hsa:2702
UCSC genome browser More...UCSCⁱ	uc057kfi.1 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P36382	Gap junction protein (Fragment)		HUMAN		358	UniRef100_P36382
Gap junction protein		GORGO		358
Gap junction protein (Fragment)		PANTR		252
Gap junction protein (Fragment)		HUMAN		251

Protein	Similar proteins		Species	Score	Length	Source
P36382	Gap junction protein (Fragment)		HUMAN		358	UniRef90_P36382
Gap junction protein		GORGO		358
Gap junction protein (Fragment)		PANTR		252
Gap junction protein		PANPA		358
Gap junction protein		MACMU		358
+20

Protein	Similar proteins		Species	Score	Length	Source
P36382	Gap junction alpha-5 protein		CHICK		369	UniRef50_P36382
Gap junction protein (Fragment)		HUMAN		358
Gap junction protein		GORGO		358
Gap junction protein (Fragment)		PANTR		252
Gap junction protein		MANLE		358
+110

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:	September 12, 2018
	This is version 172 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

Complete proteome, Reference proteome

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P36382 (CXA5_HUMAN)

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Gap junction alpha-5 protein

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Other locations

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ