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Protein

Gap junction beta-1 protein

Gene

GJB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • gap junction assembly Source: Reactome
  • nervous system development Source: ProtInc
  • protein oligomerization Source: Ensembl
  • purine ribonucleotide transport Source: Ensembl
  • transport Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169562-MONOMER.
ReactomeiR-HSA-190704. Oligomerization of connexins into connexons.
R-HSA-190827. Transport of connexins along the secretory pathway.
R-HSA-190861. Gap junction assembly.
SIGNORiP08034.

Protein family/group databases

TCDBi1.A.24.1.3. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-1 protein
Alternative name(s):
Connexin-32
Short name:
Cx32
GAP junction 28 kDa liver protein
Gene namesi
Name:GJB1
Synonyms:CX32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:4283. GJB1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 22Cytoplasmic1 PublicationAdd BLAST22
Transmembranei23 – 45HelicalCuratedAdd BLAST23
Topological domaini46 – 75Extracellular1 PublicationAdd BLAST30
Transmembranei76 – 95HelicalCuratedAdd BLAST20
Topological domaini96 – 130Cytoplasmic1 PublicationAdd BLAST35
Transmembranei131 – 153HelicalCuratedAdd BLAST23
Topological domaini154 – 191Extracellular1 PublicationAdd BLAST38
Transmembranei192 – 214HelicalCuratedAdd BLAST23
Topological domaini215 – 283Cytoplasmic1 PublicationAdd BLAST69

GO - Cellular componenti

  • connexin complex Source: ProtInc
  • endoplasmic reticulum membrane Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)58 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.
See also OMIM:302800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0020063W → R in CMTX1. 1 Publication1
Natural variantiVAR_0020073W → S in CMTX1. 4 Publications1
Natural variantiVAR_0298947 – 8YT → S in CMTX1. 1 Publication2
Natural variantiVAR_0020087Y → C in CMTX1. 3 Publications1
Natural variantiVAR_0298958T → I in CMTX1. 1 Publication1
Natural variantiVAR_0020098T → P in CMTX1. 1 Publication1
Natural variantiVAR_0298969L → W in CMTX1. 1 Publication1
Natural variantiVAR_00201011S → G in CMTX1. 1
Natural variantiVAR_00201112G → S in CMTX1. 2 Publications1
Natural variantiVAR_00201213V → L in CMTX1. 2 PublicationsCorresponds to variant rs104894820dbSNPEnsembl.1
Natural variantiVAR_00201313V → M in CMTX1. 1 PublicationCorresponds to variant rs104894820dbSNPEnsembl.1
Natural variantiVAR_00201414N → K in CMTX1. 1 Publication1
Natural variantiVAR_00201515R → Q in CMTX1. 2 Publications1
Natural variantiVAR_00201615R → W in CMTX1; moderate. 4 PublicationsCorresponds to variant rs116840815dbSNPEnsembl.1
Natural variantiVAR_00201716H → P in CMTX1. 1 Publication1
Natural variantiVAR_02989720 – 21IG → NS in CMTX1. 2
Natural variantiVAR_00201820I → S in CMTX1. 1 Publication1
Natural variantiVAR_00201921G → D in CMTX1. 1 Publication1
Natural variantiVAR_00202022R → G in CMTX1; non-functional channel. 4 Publications1
Natural variantiVAR_00202122R → P in CMTX1. 3 Publications1
Natural variantiVAR_00202222R → Q in CMTX1. 9 Publications1
Natural variantiVAR_00202323V → A in CMTX1. 2 Publications1
Natural variantiVAR_02989824W → C in CMTX1. 1 Publication1
Natural variantiVAR_00202425L → F in CMTX1. 2 Publications1
Natural variantiVAR_02989925L → P in CMTX1. 1 Publication1
Natural variantiVAR_00202526S → L in CMTX1. 4 PublicationsCorresponds to variant rs587777876dbSNPEnsembl.1
Natural variantiVAR_02990026S → W in CMTX1; severe. 1 Publication1
Natural variantiVAR_00202728I → IIF in CMTX1. 1
Natural variantiVAR_02990128I → N in CMTX1. 1 PublicationCorresponds to variant rs768834663dbSNPEnsembl.1
Natural variantiVAR_00202628I → T in CMTX1. 2 Publications1
Natural variantiVAR_00202829F → L in CMTX1. 1 Publication1
Natural variantiVAR_00202930I → N in CMTX1. 3 PublicationsCorresponds to variant rs104894817dbSNPEnsembl.1
Natural variantiVAR_02990230I → T in CMTX1. 1 Publication1
Natural variantiVAR_02990334M → I in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques. 1 Publication1
Natural variantiVAR_02990434M → K in CMTX1; localized to the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_00203034M → T in CMTX1; functional channel; localized in the Golgi apparatus without reaching the cell membrane. 6 Publications1
Natural variantiVAR_00203134M → V in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. 5 Publications1
Natural variantiVAR_00203235V → M in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. 4 Publications1
Natural variantiVAR_02990537V → M in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. 2 Publications1
Natural variantiVAR_00203338V → M in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 3 Publications1
Natural variantiVAR_00203439A → P in CMTX1. 1
Natural variantiVAR_00203539A → V in CMTX1. 1 PublicationCorresponds to variant rs786204095dbSNPEnsembl.1
Natural variantiVAR_02990640A → T in CMTX1. 1 Publication1
Natural variantiVAR_00203640A → V in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 2 Publications1
Natural variantiVAR_00203741E → K in CMTX1. 1 Publication1
Natural variantiVAR_00203843V → M in CMTX1. 1 Publication1
Natural variantiVAR_00203944W → L in CMTX1. 1 Publication1
Natural variantiVAR_02990749S → P in CMTX1. 1 PublicationCorresponds to variant rs116840817dbSNPEnsembl.1
Natural variantiVAR_00204049S → Y in CMTX1. 2 Publications1
Natural variantiVAR_00204150S → P in CMTX1. 1 Publication1
Natural variantiVAR_00204253C → S in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. 3 Publications1
Natural variantiVAR_02990855T → A in CMTX1. 1 Publication1
Natural variantiVAR_00813755T → I in CMTX1. 2 PublicationsCorresponds to variant rs104894824dbSNPEnsembl.1
Natural variantiVAR_02990955T → R in CMTX1. 1 Publication1
Natural variantiVAR_00204356L → F in CMTX1; functional channel. 3 Publications1
Natural variantiVAR_02991057Q → H in CMTX1. 2 Publications1
Natural variantiVAR_00204458P → R in CMTX1. 1 Publication1
Natural variantiVAR_00204559G → C in CMTX1. 1 Publication1
Natural variantiVAR_02991159G → R in CMTX1. 1 Publication1
Natural variantiVAR_00204660C → F in CMTX1; moderate. 4 Publications1
Natural variantiVAR_00204763V → I in CMTX1. 5 PublicationsCorresponds to variant rs116840818dbSNPEnsembl.1
Natural variantiVAR_02991264C → F in CMTX1; moderate. 1 Publication1
Natural variantiVAR_00204864C → S in CMTX1. 2 Publications1
Natural variantiVAR_00204965Y → C in CMTX1. 3 PublicationsCorresponds to variant rs104894819dbSNPEnsembl.1
Natural variantiVAR_01231365Y → H in CMTX1. 1 Publication1
Natural variantiVAR_00205066Missing in CMTX1. 1
Natural variantiVAR_02991369F → L in CMTX1. 2 Publications1
Natural variantiVAR_02991470P → A in CMTX1. 1 Publication1
Natural variantiVAR_00205175R → P in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 2 Publications1
Natural variantiVAR_00205275R → Q in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 5 Publications1
Natural variantiVAR_00205375R → W in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 5 PublicationsCorresponds to variant rs116840819dbSNPEnsembl.1
Natural variantiVAR_00205477W → S in CMTX1. 3 PublicationsCorresponds to variant rs199570177dbSNPEnsembl.1
Natural variantiVAR_00205580Q → R in CMTX1. 4 Publications1
Natural variantiVAR_00205681L → F in CMTX1. 1
Natural variantiVAR_00205783L → P in CMTX1. 1
Natural variantiVAR_00205884V → I in CMTX1. 2 Publications1
Natural variantiVAR_00205985S → C in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type. 2 PublicationsCorresponds to variant rs104894823dbSNPEnsembl.1
Natural variantiVAR_00206085S → F in CMTX1. 1 Publication1
Natural variantiVAR_00206186T → A in CMTX1; moderate. 2 Publications1
Natural variantiVAR_00206286T → N in CMTX1. 1 Publication1
Natural variantiVAR_00206386T → S in CMTX1. 1 Publication1
Natural variantiVAR_00206487P → A in CMTX1. 2 PublicationsCorresponds to variant rs587777877dbSNPEnsembl.1
Natural variantiVAR_00206587P → L in CMTX1. 1 Publication1
Natural variantiVAR_00206687P → S in CMTX1. 3 Publications1
Natural variantiVAR_00206789L → P in CMTX1. 2 Publications1
Natural variantiVAR_00206890L → H in CMTX1. 3 Publications1
Natural variantiVAR_02991590L → V in CMTX1. 1 Publication1
Natural variantiVAR_02991691V → M in CMTX1. 2 PublicationsCorresponds to variant rs756928158dbSNPEnsembl.1
Natural variantiVAR_00206993M → V in CMTX1. 2 Publications1
Natural variantiVAR_02991794H → D in CMTX1. 1 Publication1
Natural variantiVAR_00207094H → Q in CMTX1; non-functional channel. 2 Publications1
Natural variantiVAR_00207194H → Y in CMTX1. 1 Publication1
Natural variantiVAR_00207295V → M in CMTX1; non-functional channel. 5 PublicationsCorresponds to variant rs104894821dbSNPEnsembl.1
Natural variantiVAR_002073100H → Y in CMTX1; mild/moderate. 2 Publications1
Natural variantiVAR_002074102E → G in CMTX1; mild phenotype; increased sensitivity to acidification-induced closure. 6 PublicationsCorresponds to variant rs779696968dbSNPEnsembl.1
Natural variantiVAR_029918102Missing in CMTX1. 1 Publication1
Natural variantiVAR_002075103K → E in CMTX1. 1 Publication1
Natural variantiVAR_029919104K → T in CMTX1. 1 Publication1
Natural variantiVAR_002076107R → W in CMTX1. 8 Publications1
Natural variantiVAR_029920108L → P in CMTX1. 1 Publication1
Natural variantiVAR_002077111 – 116Missing in CMTX1. 1 Publication6
Natural variantiVAR_008138120V → E in CMTX1. 1 Publication1
Natural variantiVAR_029921120Missing in CMTX1. 1 Publication1
Natural variantiVAR_076567124K → E in CMTX1. 1 Publication1
Natural variantiVAR_002078124K → N in CMTX1. 1 Publication1
Natural variantiVAR_029922125V → D in CMTX1. 1 Publication1
Natural variantiVAR_029923126H → Y in CMTX1. 1 Publication1
Natural variantiVAR_029924127I → M in CMTX1. 1 Publication1
Natural variantiVAR_029925127I → S in CMTX1. 1 Publication1
Natural variantiVAR_002079128S → P in CMTX1. 1 Publication1
Natural variantiVAR_029926130T → I in CMTX1. 1 Publication1
Natural variantiVAR_029927131L → P in CMTX1. 1 Publication1
Natural variantiVAR_002080133W → C in CMTX1; moderate. 1 Publication1
Natural variantiVAR_002081133W → R in CMTX1. 5 PublicationsCorresponds to variant rs104894813dbSNPEnsembl.1
Natural variantiVAR_002082135Y → C in CMTX1. 1
Natural variantiVAR_021611136V → A in CMTX1 and DSS; found in a DSS patient with severe symptoms also carrying W-359 in the EGR2 gene; may act as a modifier of disease severity. 2 PublicationsCorresponds to variant rs104894826dbSNPEnsembl.1
Natural variantiVAR_029928138S → N in CMTX1. 1 Publication1
Natural variantiVAR_002083139V → M in CMTX1. 8 PublicationsCorresponds to variant rs104894812dbSNPEnsembl.1
Natural variantiVAR_002084141F → L in CMTX1. 2 Publications1
Natural variantiVAR_002085142R → E in CMTX1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_029929142R → Q in CMTX1. 4 PublicationsCorresponds to variant rs786204123dbSNPEnsembl.1
Natural variantiVAR_002086142R → W in CMTX1; moderate. 12 PublicationsCorresponds to variant rs104894810dbSNPEnsembl.1
Natural variantiVAR_002087143Missing in CMTX1. 3 Publications1
Natural variantiVAR_029930146E → K in CMTX1. 1 Publication1
Natural variantiVAR_029931147A → D in CMTX1. 1 Publication1
Natural variantiVAR_002088149F → I in CMTX1. 1
Natural variantiVAR_029932149F → V in CMTX1; unknown pathological significance. 1 Publication1
Natural variantiVAR_029933151Y → S in CMTX1. 1 Publication1
Natural variantiVAR_029934153F → S in CMTX1. 1 Publication1
Natural variantiVAR_002089156L → F in CMTX1. 3 Publications1
Natural variantiVAR_002090156L → R in CMTX1. 3 PublicationsCorresponds to variant rs104894818dbSNPEnsembl.1
Natural variantiVAR_002091157Y → C in CMTX1. 1 Publication1
Natural variantiVAR_002092158P → A in CMTX1. 5 Publications1
Natural variantiVAR_002093158P → R in CMTX1. 1 Publication1
Natural variantiVAR_002094158P → S in CMTX1. 1
Natural variantiVAR_029935159G → D in CMTX1. 1 Publication1
Natural variantiVAR_002095159G → S in CMTX1. 1 Publication1
Natural variantiVAR_002096160Y → H in CMTX1. 1 Publication1
Natural variantiVAR_002097161A → P in CMTX1. 1 Publication1
Natural variantiVAR_002098164R → Q in CMTX1. 8 Publications1
Natural variantiVAR_002099164R → W in CMTX1; moderate. 8 PublicationsCorresponds to variant rs139643362dbSNPEnsembl.1
Natural variantiVAR_021612168C → R in CMTX1; demyelinating form. 1 Publication1
Natural variantiVAR_029936168C → Y in CMTX1. 1 Publication1
Natural variantiVAR_029937172P → A in CMTX1. 1 Publication1
Natural variantiVAR_002100172P → L in CMTX1. 3 Publications1
Natural variantiVAR_029938172P → R in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. 2 Publications1
Natural variantiVAR_002101172P → S in CMTX1. 2 PublicationsCorresponds to variant rs104894811dbSNPEnsembl.1
Natural variantiVAR_002102173C → R in CMTX1. 1
Natural variantiVAR_002103175N → D in CMTX1. 1 Publication1
Natural variantiVAR_029939177V → A in CMTX1. 2 Publications1
Natural variantiVAR_029940177V → E in CMTX1. 1 Publication1
Natural variantiVAR_002104178D → Y in CMTX1. 1 Publication1
Natural variantiVAR_002105179C → R in CMTX1. 1 Publication1
Natural variantiVAR_002106180F → L in CMTX1. 1 Publication1
Natural variantiVAR_029941180F → S in CMTX1. 1 Publication1
Natural variantiVAR_029942181V → A in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers. 1 Publication1
Natural variantiVAR_002107181V → M in CMTX1. 1 Publication1
Natural variantiVAR_002108182S → T in CMTX1. 3 Publications1
Natural variantiVAR_002109183R → C in CMTX1. 2 Publications1
Natural variantiVAR_002110183R → H in CMTX1. 4 Publications1
Natural variantiVAR_002111183R → S in CMTX1. 2 Publications1
Natural variantiVAR_029943184P → L in CMTX1. 1 Publication1
Natural variantiVAR_002112184P → R in CMTX1. 1 Publication1
Natural variantiVAR_002113185Missing in CMTX1. 1 Publication1
Natural variantiVAR_002114186E → K in CMTX1; non-functional channel. 6 PublicationsCorresponds to variant rs116840821dbSNPEnsembl.1
Natural variantiVAR_002115187K → E in CMTX1. 1 Publication1
Natural variantiVAR_002116189V → G in CMTX1. 1 Publication1
Natural variantiVAR_002117189V → I in CMTX1. 1 PublicationCorresponds to variant rs770116247dbSNPEnsembl.1
Natural variantiVAR_002118191 – 193Missing in CMTX1. 1 Publication3
Natural variantiVAR_029944191T → A in CMTX1. 1 Publication1
Natural variantiVAR_029945192V → F in CMTX1. 1 Publication1
Natural variantiVAR_002119193F → C in CMTX1. 1 Publication1
Natural variantiVAR_029946193F → L in CMTX1. 1 Publication1
Natural variantiVAR_002120194M → V in CMTX1. 1 PublicationCorresponds to variant rs587777878