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P08034

- CXB1_HUMAN

UniProt

P08034 - CXB1_HUMAN

Protein

Gap junction beta-1 protein

Gene

GJB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 1 (01 Aug 1988)
      Previous versions | rss
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    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 Source: Ensembl

    GO - Biological processi

    1. cell-cell signaling Source: ProtInc
    2. cell death Source: UniProtKB-KW
    3. gap junction assembly Source: Reactome
    4. membrane organization Source: Reactome
    5. nervous system development Source: ProtInc
    6. protein oligomerization Source: Ensembl
    7. purine ribonucleotide transport Source: Ensembl
    8. transport Source: ProtInc

    Enzyme and pathway databases

    ReactomeiREACT_9392. Transport of connexins along the secretory pathway.
    REACT_9398. Oligomerization of connexins into connexons.
    REACT_9509. Gap junction assembly.

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:4283. GJB1.

    Subcellular locationi

    GO - Cellular componenti

    1. connexon complex Source: ProtInc
    2. endoplasmic reticulum membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A 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.27 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31W → R in CMTX1. 1 Publication
    VAR_002006
    Natural varianti3 – 31W → S in CMTX1. 4 Publications
    VAR_002007
    Natural varianti7 – 82YT → S in CMTX1.
    VAR_029894
    Natural varianti7 – 71Y → C in CMTX1. 3 Publications
    VAR_002008
    Natural varianti8 – 81T → I in CMTX1. 1 Publication
    VAR_029895
    Natural varianti8 – 81T → P in CMTX1. 1 Publication
    VAR_002009
    Natural varianti9 – 91L → W in CMTX1. 1 Publication
    VAR_029896
    Natural varianti11 – 111S → G in CMTX1.
    VAR_002010
    Natural varianti12 – 121G → S in CMTX1. 2 Publications
    VAR_002011
    Natural varianti13 – 131V → L in CMTX1. 2 Publications
    VAR_002012
    Natural varianti13 – 131V → M in CMTX1. 1 Publication
    VAR_002013
    Natural varianti14 – 141N → K in CMTX1. 1 Publication
    VAR_002014
    Natural varianti15 – 151R → Q in CMTX1. 2 Publications
    VAR_002015
    Natural varianti15 – 151R → W in CMTX1; moderate. 4 Publications
    VAR_002016
    Natural varianti16 – 161H → P in CMTX1. 1 Publication
    VAR_002017
    Natural varianti20 – 212IG → NS in CMTX1.
    VAR_029897
    Natural varianti20 – 201I → S in CMTX1. 1 Publication
    VAR_002018
    Natural varianti21 – 211G → D in CMTX1. 1 Publication
    VAR_002019
    Natural varianti22 – 221R → G in CMTX1; non-functional channel. 4 Publications
    VAR_002020
    Natural varianti22 – 221R → P in CMTX1. 3 Publications
    VAR_002021
    Natural varianti22 – 221R → Q in CMTX1; can be associated with Ile-63. 9 Publications
    VAR_002022
    Natural varianti23 – 231V → A in CMTX1. 2 Publications
    VAR_002023
    Natural varianti24 – 241W → C in CMTX1. 1 Publication
    VAR_029898
    Natural varianti25 – 251L → F in CMTX1. 2 Publications
    VAR_002024
    Natural varianti25 – 251L → P in CMTX1. 1 Publication
    VAR_029899
    Natural varianti26 – 261S → L in CMTX1. 4 Publications
    VAR_002025
    Natural varianti26 – 261S → W in CMTX1; severe. 1 Publication
    VAR_029900
    Natural varianti28 – 281I → IIF in CMTX1.
    VAR_002027
    Natural varianti28 – 281I → N in CMTX1. 1 Publication
    VAR_029901
    Natural varianti28 – 281I → T in CMTX1. 2 Publications
    VAR_002026
    Natural varianti29 – 291F → L in CMTX1. 1 Publication
    VAR_002028
    Natural varianti30 – 301I → N in CMTX1. 3 Publications
    VAR_002029
    Natural varianti30 – 301I → T in CMTX1. 1 Publication
    VAR_029902
    Natural varianti34 – 341M → I in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques.
    VAR_029903
    Natural varianti34 – 341M → K in CMTX1; localized to the endoplasmic reticulum. 1 Publication
    VAR_029904
    Natural varianti34 – 341M → T in CMTX1; functional channel; localized in the Golgi apparatus without reaching the cell membrane. 5 Publications
    VAR_002030
    Natural varianti34 – 341M → V in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. 4 Publications
    VAR_002031
    Natural varianti35 – 351V → M in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. 3 Publications
    VAR_002032
    Natural varianti37 – 371V → M in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. 1 Publication
    VAR_029905
    Natural varianti38 – 381V → M in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 2 Publications
    VAR_002033
    Natural varianti39 – 391A → P in CMTX1.
    VAR_002034
    Natural varianti39 – 391A → V in CMTX1. 1 Publication
    VAR_002035
    Natural varianti40 – 401A → T in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 1 Publication
    VAR_029906
    Natural varianti40 – 401A → V in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 1 Publication
    VAR_002036
    Natural varianti41 – 411E → K in CMTX1. 1 Publication
    VAR_002037
    Natural varianti43 – 431V → M in CMTX1. 1 Publication
    VAR_002038
    Natural varianti44 – 441W → L in CMTX1. 1 Publication
    VAR_002039
    Natural varianti49 – 491S → P in CMTX1. 1 Publication
    VAR_029907
    Natural varianti49 – 491S → Y in CMTX1. 2 Publications
    VAR_002040
    Natural varianti50 – 501S → P in CMTX1. 1 Publication
    VAR_002041
    Natural varianti53 – 531C → S in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. 3 Publications
    VAR_002042
    Natural varianti55 – 551T → A in CMTX1. 1 Publication
    VAR_029908
    Natural varianti55 – 551T → I in CMTX1. 2 Publications
    VAR_008137
    Natural varianti55 – 551T → R in CMTX1. 1 Publication
    VAR_029909
    Natural varianti56 – 561L → F in CMTX1; functional channel. 3 Publications
    VAR_002043
    Natural varianti57 – 571Q → H in CMTX1. 2 Publications
    VAR_029910
    Natural varianti59 – 591G → C in CMTX1. 1 Publication
    VAR_002045
    Natural varianti59 – 591G → R in CMTX1. 1 Publication
    VAR_029911
    Natural varianti60 – 601C → F in CMTX1; moderate. 4 Publications
    VAR_002046
    Natural varianti63 – 631V → I in CMTX1; can be associated with Gln-22. 5 Publications
    VAR_002047
    Natural varianti64 – 641C → F in CMTX1; moderate. 1 Publication
    VAR_029912
    Natural varianti64 – 641C → S in CMTX1. 2 Publications
    VAR_002048
    Natural varianti65 – 651Y → C in CMTX1. 3 Publications
    VAR_002049
    Natural varianti65 – 651Y → H in CMTX1. 1 Publication
    VAR_012313
    Natural varianti66 – 661Missing in CMTX1.
    VAR_002050
    Natural varianti69 – 691F → L in CMTX1. 2 Publications
    VAR_029913
    Natural varianti70 – 701P → A in CMTX1. 1 Publication
    VAR_029914
    Natural varianti75 – 751R → P in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 1 Publication
    VAR_002051
    Natural varianti75 – 751R → Q in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 4 Publications
    VAR_002052
    Natural varianti75 – 751R → W in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. 4 Publications
    VAR_002053
    Natural varianti77 – 771W → S in CMTX1. 3 Publications
    VAR_002054
    Natural varianti80 – 801Q → R in CMTX1. 4 Publications
    VAR_002055
    Natural varianti81 – 811L → F in CMTX1.
    VAR_002056
    Natural varianti83 – 831L → P in CMTX1.
    VAR_002057
    Natural varianti84 – 841V → I in CMTX1. 2 Publications
    VAR_002058
    Natural varianti85 – 851S → C in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type. 1 Publication
    VAR_002059
    Natural varianti85 – 851S → F in CMTX1. 1 Publication
    VAR_002060
    Natural varianti86 – 861T → A in CMTX1; moderate. 2 Publications
    VAR_002061
    Natural varianti86 – 861T → N in CMTX1. 1 Publication
    VAR_002062
    Natural varianti86 – 861T → S in CMTX1. 1 Publication
    VAR_002063
    Natural varianti87 – 871P → A in CMTX1. 2 Publications
    VAR_002064
    Natural varianti87 – 871P → L in CMTX1. 1 Publication
    VAR_002065
    Natural varianti87 – 871P → S in CMTX1. 3 Publications
    VAR_002066
    Natural varianti89 – 891L → P in CMTX1. 2 Publications
    VAR_002067
    Natural varianti90 – 901L → H in CMTX1. 3 Publications
    VAR_002068
    Natural varianti90 – 901L → V in CMTX1. 1 Publication
    VAR_029915
    Natural varianti91 – 911V → M in CMTX1. 2 Publications
    VAR_029916
    Natural varianti93 – 931M → V in CMTX1. 2 Publications
    VAR_002069
    Natural varianti94 – 941H → D in CMTX1. 1 Publication
    VAR_029917
    Natural varianti94 – 941H → Q in CMTX1; non-functional channel. 2 Publications
    VAR_002070
    Natural varianti94 – 941H → Y in CMTX1. 1 Publication
    VAR_002071
    Natural varianti95 – 951V → M in CMTX1; non-functional channel. 5 Publications
    VAR_002072
    Natural varianti100 – 1001H → Y in CMTX1; mild/moderate. 2 Publications
    VAR_002073
    Natural varianti102 – 1021E → G in CMTX1; mild phenotype; increased sensitivity to acidification-induced closure. 6 Publications
    VAR_002074
    Natural varianti102 – 1021Missing in CMTX1. 1 Publication
    VAR_029918
    Natural varianti103 – 1031K → E in CMTX1. 1 Publication
    VAR_002075
    Natural varianti104 – 1041K → T in CMTX1. 1 Publication
    VAR_029919
    Natural varianti107 – 1071R → W in CMTX1. 8 Publications
    VAR_002076
    Natural varianti108 – 1081L → P in CMTX1. 1 Publication
    VAR_029920
    Natural varianti111 – 1166Missing in CMTX1.
    VAR_002077
    Natural varianti120 – 1201V → E in CMTX1. 1 Publication
    VAR_008138
    Natural varianti120 – 1201Missing in CMTX1. 1 Publication
    VAR_029921
    Natural varianti124 – 1241K → N in CMTX1. 1 Publication
    VAR_002078
    Natural varianti125 – 1251V → D in CMTX1. 1 Publication
    VAR_029922
    Natural varianti126 – 1261H → Y in CMTX1. 1 Publication
    VAR_029923
    Natural varianti127 – 1271I → M in CMTX1. 1 Publication
    VAR_029924
    Natural varianti127 – 1271I → S in CMTX1. 1 Publication
    VAR_029925
    Natural varianti128 – 1281S → P in CMTX1. 1 Publication
    VAR_002079
    Natural varianti130 – 1301T → I in CMTX1. 1 Publication
    VAR_029926
    Natural varianti131 – 1311L → P in CMTX1. 1 Publication
    VAR_029927
    Natural varianti133 – 1331W → C in CMTX1; moderate. 1 Publication
    VAR_002080
    Natural varianti133 – 1331W → R in CMTX1. 5 Publications
    VAR_002081
    Natural varianti135 – 1351Y → C in CMTX1.
    VAR_002082
    Natural varianti136 – 1361V → 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 Publications
    VAR_021611
    Natural varianti138 – 1381S → N in CMTX1. 1 Publication
    VAR_029928
    Natural varianti139 – 1391V → M in CMTX1. 8 Publications
    VAR_002083
    Natural varianti141 – 1411F → L in CMTX1. 2 Publications
    VAR_002084
    Natural varianti142 – 1421R → E in CMTX1; requires 2 nucleotide substitutions. 1 Publication
    VAR_002085
    Natural varianti142 – 1421R → Q in CMTX1. 4 Publications
    VAR_029929
    Natural varianti142 – 1421R → W in CMTX1; moderate. 12 Publications
    VAR_002086
    Natural varianti143 – 1431Missing in CMTX1. 3 Publications
    VAR_002087
    Natural varianti146 – 1461E → K in CMTX1. 1 Publication
    VAR_029930
    Natural varianti147 – 1471A → D in CMTX1. 1 Publication
    VAR_029931
    Natural varianti149 – 1491F → I in CMTX1.
    VAR_002088
    Natural varianti149 – 1491F → V in CMTX1; pathogenicity uncertain. 1 Publication
    VAR_029932
    Natural varianti151 – 1511Y → S in CMTX1. 1 Publication
    VAR_029933
    Natural varianti153 – 1531F → S in CMTX1. 1 Publication
    VAR_029934
    Natural varianti156 – 1561L → F in CMTX1. 3 Publications
    VAR_002089
    Natural varianti156 – 1561L → R in CMTX1. 3 Publications
    VAR_002090
    Natural varianti157 – 1571Y → C in CMTX1. 1 Publication
    VAR_002091
    Natural varianti158 – 1581P → A in CMTX1. 5 Publications
    VAR_002092
    Natural varianti158 – 1581P → R in CMTX1. 1 Publication
    VAR_002093
    Natural varianti158 – 1581P → S in CMTX1.
    VAR_002094
    Natural varianti159 – 1591G → D in CMTX1. 1 Publication
    VAR_029935
    Natural varianti159 – 1591G → S in CMTX1. 1 Publication
    VAR_002095
    Natural varianti160 – 1601Y → H in CMTX1. 1 Publication
    VAR_002096
    Natural varianti161 – 1611A → P in CMTX1. 1 Publication
    VAR_002097
    Natural varianti164 – 1641R → Q in CMTX1. 8 Publications
    VAR_002098
    Natural varianti164 – 1641R → W in CMTX1; moderate. 8 Publications
    VAR_002099
    Natural varianti168 – 1681C → R in CMTX1; demyelinating form. 1 Publication
    VAR_021612
    Natural varianti168 – 1681C → Y in CMTX1. 1 Publication
    VAR_029936
    Natural varianti172 – 1721P → A in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. 1 Publication
    VAR_029937
    Natural varianti172 – 1721P → L in CMTX1. 3 Publications
    VAR_002100
    Natural varianti172 – 1721P → R in CMTX1. 2 Publications
    VAR_029938
    Natural varianti172 – 1721P → S in CMTX1. 2 Publications
    VAR_002101
    Natural varianti173 – 1731C → R in CMTX1.
    VAR_002102
    Natural varianti177 – 1771V → A in CMTX1. 2 Publications
    VAR_029939
    Natural varianti177 – 1771V → E in CMTX1. 1 Publication
    VAR_029940
    Natural varianti178 – 1781D → Y in CMTX1. 1 Publication
    VAR_002104
    Natural varianti179 – 1791C → R in CMTX1. 1 Publication
    VAR_002105
    Natural varianti180 – 1801F → L in CMTX1. 1 Publication
    VAR_002106
    Natural varianti180 – 1801F → S in CMTX1. 1 Publication
    VAR_029941
    Natural varianti181 – 1811V → A in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers. 1 Publication
    VAR_029942
    Natural varianti181 – 1811V → M in CMTX1. 1 Publication
    VAR_002107
    Natural varianti182 – 1821S → T in CMTX1. 3 Publications
    VAR_002108
    Natural varianti183 – 1831R → C in CMTX1. 2 Publications
    VAR_002109
    Natural varianti183 – 1831R → H in CMTX1. 4 Publications
    VAR_002110
    Natural varianti183 – 1831R → S in CMTX1. 2 Publications
    VAR_002111
    Natural varianti184 – 1841P → L in CMTX1. 1 Publication
    VAR_029943
    Natural varianti184 – 1841P → R in CMTX1. 1 Publication
    VAR_002112
    Natural varianti185 – 1851Missing in CMTX1. 1 Publication
    VAR_002113
    Natural varianti186 – 1861E → K in CMTX1; non-functional channel. 6 Publications
    VAR_002114
    Natural varianti187 – 1871K → E in CMTX1. 1 Publication
    VAR_002115
    Natural varianti189 – 1891V → G in CMTX1. 1 Publication
    VAR_002116
    Natural varianti189 – 1891V → I in CMTX1. 1 Publication
    VAR_002117
    Natural varianti191 – 1933Missing in CMTX1.
    VAR_002118
    Natural varianti191 – 1911T → A in CMTX1. 1 Publication
    VAR_029944
    Natural varianti192 – 1921V → F in CMTX1. 1 Publication
    VAR_029945
    Natural varianti193 – 1931F → C in CMTX1. 1 Publication
    VAR_002119
    Natural varianti193 – 1931F → L in CMTX1. 1 Publication
    VAR_029946
    Natural varianti194 – 1941M → V in CMTX1. 1 Publication
    VAR_002120
    Natural varianti198 – 1981S → F in CMTX1. 1 Publication
    VAR_002121
    Natural varianti199 – 1991G → R in CMTX1. 3 Publications
    VAR_002122
    Natural varianti201 – 2011C → R in CMTX1; severe. 2 Publications
    VAR_002123
    Natural varianti201 – 2011C → Y in CMTX1. 1 Publication
    VAR_029947
    Natural varianti203 – 2031I → N in CMTX1. 2 Publications
    VAR_002124
    Natural varianti204 – 2041L → F in CMTX1. 1 Publication
    VAR_002125
    Natural varianti204 – 2041L → V in CMTX1. 1 Publication
    VAR_029948
    Natural varianti205 – 2051N → I in CMTX1; localized to the endoplasmic reticulum. 1 Publication
    VAR_029949
    Natural varianti205 – 2051N → S in CMTX1; mild. 6 Publications
    VAR_002126
    Natural varianti208 – 2081E → G in CMTX1. 1 Publication
    VAR_029950
    Natural varianti208 – 2081E → K in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling. 3 Publications
    VAR_002127
    Natural varianti209 – 2091Missing in CMTX1. 1 Publication
    VAR_029951
    Natural varianti211 – 2111Y → H in CMTX1. 1 Publication
    VAR_029952
    Natural varianti213 – 2142II → L in CMTX1.
    VAR_002128
    Natural varianti213 – 2131I → V in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques.
    VAR_029953
    Natural varianti215 – 2151R → Q in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling.
    VAR_029954
    Natural varianti215 – 2151R → W in CMTX1; mild/moderate; non-functional channel. 8 Publications
    VAR_002129
    Natural varianti219 – 2191R → C in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. 1 Publication
    VAR_002130
    Natural varianti219 – 2191R → H in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. 1 Publication
    Corresponds to variant rs199834862 [ dbSNP | Ensembl ].
    VAR_002131
    Natural varianti220 – 2201R → G in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. 1 Publication