Entity Details

Primary name CXA5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP36382
EntryNameCXA5_HUMAN
FullNameGap junction alpha-5 protein
TaxID9606
Evidenceevidence at protein level
Length358
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesGJA5

GO terms

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GOName
GO:0001525 angiogenesis
GO:0003105 negative regulation of glomerular filtration
GO:0003151 outflow tract morphogenesis
GO:0003158 endothelium development
GO:0003161 cardiac conduction system development
GO:0003174 mitral valve development
GO:0003193 pulmonary valve formation
GO:0003281 ventricular septum development
GO:0003283 atrial septum development
GO:0005243 gap junction channel activity
GO:0005887 integral component of plasma membrane
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0006813 potassium ion transport
GO:0007267 cell-cell signaling
GO:0010643 cell communication by chemical coupling
GO:0010649 regulation of cell communication by electrical coupling
GO:0010652 positive regulation of cell communication by chemical coupling
GO:0014704 intercalated disc
GO:0016264 gap junction assembly
GO:0042995 cell projection
GO:0045776 negative regulation of blood pressure
GO:0045907 positive regulation of vasoconstriction
GO:0048844 artery morphogenesis
GO:0055077 gap junction hemi-channel activity
GO:0055117 regulation of cardiac muscle contraction
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0071253 connexin binding
GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling
GO:0086021 SA node cell to atrial cardiac muscle cell communication by electrical coupling
GO:0086044 atrial cardiac muscle cell to AV node cell communication by electrical coupling
GO:0086053 AV node cell to bundle of His cell communication by electrical coupling
GO:0086054 bundle of His cell to Purkinje myocyte communication by electrical coupling
GO:0086055 Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling
GO:0086076 gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
GO:0086078 gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling
GO:0086079 gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling
GO:0097718 disordered domain specific binding
GO:0098904 regulation of AV node cell action potential
GO:0098905 regulation of bundle of His cell action potential
GO:0098906 regulation of Purkinje myocyte action potential
GO:0098910 regulation of atrial cardiac muscle cell action potential
GO:1990029 vasomotion

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR000500 ConnexinFamilyFamily
IPR002264 Gap junction alpha-5 protein (Cx40)FamilyFamily
IPR013092 Connexin, N-terminalDomainDomain
IPR017990 Connexin, conserved siteSiteConserved site
IPR019570 Gap junction protein, cysteine-rich domainDomainDomain
IPR031862 Gap junction alpha-5 protein (Cx40), C-terminalDomainDomain
IPR034634 Connexin, C-terminalFamilyHomologous superfamily
IPR038359 Connexin, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614049 OMIMAtrial fibrillation, familial, 11 (ATFB11)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. The disease is caused by variants affecting the gene represented in this entry.
108770 OMIMAtrial standstill 1 (ATRST1)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. The disease may be caused by variants 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.

Interactions

40 interactions

InteractorPartnerSourcesPublicationsLink
CXA5_HUMANAAR2_HUMANBioGRID, HPRD, IntAct16189514 details
CXA5_HUMANMARK1_HUMANBioGRID, IntAct21988832 details
CXA5_HUMANRIMS3_HUMANBioGRID, IntAct21988832 details
CXA5_HUMANS13A4_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANS35F1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANIBP5_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANRPRM_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANCD003_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANABHGA_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANMFSD5_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANPRAF2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANZNT2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANBLCAP_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANLHPL2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANBI1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANLERL1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANPGAP2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANVRK2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANCXB2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANTREX1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANLAAT1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANS41A1_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANYIPF6_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANS41A2_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANNKG7_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANEMP3_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANM4A13_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANTM107_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANOBRG_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANNPAL3_HUMANBioGRID, IntAct32296183 details
CXA5_HUMANCALR_HUMANIntAct32814053 details
CXA5_HUMANODO2_HUMANIntAct32814053 details
CXA5_HUMANJPH3_HUMANIntAct32814053 details
CXA5_HUMANNEK7_HUMANIntAct32814053 details
CXA5_HUMANUBQL4_HUMANBioGRID25583071 details
CXA5_HUMANFCERG_HUMANBioGRID32296183 details
CXA5_HUMANCXA1_HUMANBioGRID, HPRD11557558 details
CXA5_HUMANPSMD2_HUMANBioGRID25583071 details
CXA5_HUMANMLP3B_HUMANBioGRID32272685 details
CXA5_HUMANKAPCA_HUMANHPRD10728420 details