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P36382

- CXA5_HUMAN

UniProt

P36382 - CXA5_HUMAN

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Protein

Gap junction alpha-5 protein

Gene

GJA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

  1. gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling Source: BHF-UCL
  2. gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCL
  3. gap junction hemi-channel activity Source: BHF-UCL

GO - Biological processi

  1. angiogenesis Source: UniProtKB
  2. artery morphogenesis Source: BHF-UCL
  3. atrial cardiac muscle cell action potential Source: BHF-UCL
  4. atrial septum development Source: BHF-UCL
  5. AV node cell to bundle of His cell communication by electrical coupling Source: BHF-UCL
  6. bundle of His cell to Purkinje myocyte communication Source: BHF-UCL
  7. cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
  8. gap junction assembly Source: BHF-UCL
  9. mitral valve development Source: BHF-UCL
  10. outflow tract morphogenesis Source: BHF-UCL
  11. pulmonary valve formation Source: BHF-UCL
  12. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  13. regulation of cardiac muscle contraction Source: BHF-UCL
  14. transmembrane transport Source: GOC
  15. ventricular septum development Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-5 protein
Alternative name(s):
Connexin-40
Short name:
Cx40
Gene namesi
Name:GJA5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4279. GJA5.

Subcellular locationi

GO - Cellular componenti

  1. connexon complex Source: BHF-UCL
  2. gap junction Source: BHF-UCL
  3. integral component of plasma membrane Source: BHF-UCL
  4. intercalated disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Atrial standstill 1 (ATRST1) [MIM:108770]: A 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.1 Publication
Note: 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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881P → S in ATRST1; somatic. 1 Publication
VAR_035013
Natural varianti96 – 961A → S in ATRST1. 1 Publication
Corresponds to variant rs121434557 [ dbSNP | Ensembl ].
VAR_035014
Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851V → I in ATFB11. 1 Publication
VAR_066249
Natural varianti221 – 2211L → I in ATFB11. 1 Publication
VAR_066250
Natural varianti229 – 2291L → M in ATFB11. 1 Publication
VAR_066251

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi108770. phenotype.
614049. phenotype.
Orphaneti334. Familial atrial fibrillation.
3303. Tetralogy of Fallot.
PharmGKBiPA28690.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 358358Gap junction alpha-5 proteinPRO_0000057819Add
BLAST

Proteomic databases

PaxDbiP36382.
PRIDEiP36382.

PTM databases

PhosphoSiteiP36382.

Expressioni

Gene expression databases

BgeeiP36382.
CleanExiHS_GJA5.
ExpressionAtlasiP36382. differential.
GenevestigatoriP36382.

Organism-specific databases

HPAiCAB013080.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

BioGridi108969. 4 interactions.
IntActiP36382. 3 interactions.
MINTiMINT-1454178.
STRINGi9606.ENSP00000271348.

Structurei

3D structure databases

ProteinModelPortaliP36382.
SMRiP36382. Positions 3-229, 252-358.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
BLAST
Topological domaini98 – 16467CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini186 – 20520ExtracellularSequence AnalysisAdd
BLAST
Topological domaini227 – 358132CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021HelicalSequence AnalysisAdd
BLAST
Transmembranei77 – 9721HelicalSequence AnalysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence AnalysisAdd
BLAST
Transmembranei206 – 22621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG45265.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP36382.
KOiK07614.
OMAiDWSFLGE.
OrthoDBiEOG7P2XSS.
PhylomeDBiP36382.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002264. Connexin40.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF13. PTHR11984:SF13. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01135. CONNEXINA5.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P36382-1 [UniParc]FASTAAdd 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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851V → I in ATFB11. 1 Publication
VAR_066249
Natural varianti88 – 881P → S in ATRST1; somatic. 1 Publication
VAR_035013
Natural varianti96 – 961A → S in ATRST1. 1 Publication
Corresponds to variant rs121434557 [ dbSNP | Ensembl ].
VAR_035014
Natural varianti221 – 2211L → I in ATFB11. 1 Publication
VAR_066250
Natural varianti229 – 2291L → M in ATFB11. 1 Publication
VAR_066251

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS929.1.
PIRiI38429.
RefSeqiNP_005257.2. NM_005266.6.
NP_859054.1. NM_181703.3.
XP_005273008.1. XM_005272951.2.
UniGeneiHs.447968.

Genome annotation databases

GeneIDi2702.
KEGGihsa:2702.
UCSCiuc001eps.1. human.

Polymorphism databases

DMDMi8928556.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005272951.2.
UniGenei Hs.447968.

3D structure databases

ProteinModelPortali P36382.
SMRi P36382. Positions 3-229, 252-358.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108969. 4 interactions.
IntActi P36382. 3 interactions.
MINTi MINT-1454178.
STRINGi 9606.ENSP00000271348.

Chemistry

GuidetoPHARMACOLOGYi 726.

PTM databases

PhosphoSitei P36382.

Polymorphism databases

DMDMi 8928556.

Proteomic databases

PaxDbi P36382.
PRIDEi P36382.

Protocols and materials databases

DNASUi 2702.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 2702.
KEGGi hsa:2702.
UCSCi uc001eps.1. human.

Organism-specific databases

CTDi 2702.
GeneCardsi GC01M147228.
HGNCi HGNC:4279. GJA5.
HPAi CAB013080.
MIMi 108770. phenotype.
121013. gene.
614049. phenotype.
neXtProti NX_P36382.
Orphaneti 334. Familial atrial fibrillation.
3303. Tetralogy of Fallot.
PharmGKBi PA28690.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45265.
GeneTreei ENSGT00760000118780.
HOGENOMi HOG000231127.
HOVERGENi HBG009576.
InParanoidi P36382.
KOi K07614.
OMAi DWSFLGE.
OrthoDBi EOG7P2XSS.
PhylomeDBi P36382.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikii GJA5.
GenomeRNAii 2702.
NextBioi 10682.
PROi P36382.
SOURCEi Search...

Gene expression databases

Bgeei P36382.
CleanExi HS_GJA5.
ExpressionAtlasi P36382. differential.
Genevestigatori P36382.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002264. Connexin40.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
PTHR11984:SF13. PTHR11984:SF13. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01135. CONNEXINA5.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45."
    Kanter H.L., Saffitz J.E., Beyer E.C.
    J. Mol. Cell. Cardiol. 26:861-868(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. Beyer E.C., Christensen E.A.
    Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Nucleotide sequence of protein-coding region of human connexin 40 gene."
    Lin H.H., Jin N., Kiang D.T.
    Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes."
    Haefliger J.-A., Goy J.J., Waeber G.
    Eur. Heart J. 20:1843-1843(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  8. Cited for: VARIANTS ATRST1 SER-88 AND SER-96.
  9. "Novel connexin40 missense mutations in patients with familial atrial fibrillation."
    Yang Y.Q., Liu X., Zhang X.L., Wang X.H., Tan H.W., Shi H.F., Jiang W.F., Fang W.Y.
    Europace 12:1421-1427(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ATFB11 ILE-85; ILE-221 AND MET-229.

Entry informationi

Entry nameiCXA5_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 137 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3