Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P08034

- CXB1_HUMAN

UniProt

P08034 - CXB1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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
Complete GO annotation...

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
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) [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. 1 Publication
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. 1 Publication
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. 1 Publication
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. 2 Publications
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