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P08034 (CXB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 157. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction beta-1 protein
Alternative name(s):
Connexin-32
Short name=Cx32
GAP junction 28 kDa liver protein
Gene names
Name:GJB1
Synonyms:CX32
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length283 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

A connexon is composed of a hexamer of connexins. Interacts with CNST By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.68 Ref.70 Ref.71

Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Note: The gene represented in this entry may act as a disease modifier. Ref.72

Sequence similarities

Belongs to the connexin family. Beta-type (group I) subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 283283Gap junction beta-1 protein
PRO_0000057849

Regions

Topological domain1 – 2222Cytoplasmic Probable
Transmembrane23 – 4523Helical; Probable
Topological domain46 – 7530Extracellular Probable
Transmembrane76 – 9520Helical; Probable
Topological domain96 – 13035Cytoplasmic Probable
Transmembrane131 – 15323Helical; Probable
Topological domain154 – 19138Extracellular Probable
Transmembrane192 – 21423Helical; Probable
Topological domain215 – 28369Cytoplasmic Probable

Amino acid modifications

Modified residue2581Phosphoserine By similarity
Modified residue2661Phosphoserine By similarity

Natural variations

Natural variant31W → R in CMTX1. Ref.30
VAR_002006
Natural variant31W → S in CMTX1. Ref.16 Ref.21 Ref.30 Ref.33
VAR_002007
Natural variant7 – 82YT → S in CMTX1. Ref.30
VAR_029894
Natural variant71Y → C in CMTX1. Ref.19 Ref.30 Ref.52
VAR_002008
Natural variant81T → I in CMTX1. Ref.49
VAR_029895
Natural variant81T → P in CMTX1. Ref.52
VAR_002009
Natural variant91L → W in CMTX1. Ref.38
VAR_029896
Natural variant111S → G in CMTX1.
VAR_002010
Natural variant121G → S in CMTX1. Ref.10 Ref.30
VAR_002011
Natural variant131V → L in CMTX1. Ref.15 Ref.30
VAR_002012
Natural variant131V → M in CMTX1. Ref.30
VAR_002013
Natural variant141N → K in CMTX1. Ref.30
VAR_002014
Natural variant151R → Q in CMTX1. Ref.12 Ref.30
VAR_002015
Natural variant151R → W in CMTX1; moderate. Ref.25 Ref.30 Ref.35 Ref.56
VAR_002016
Natural variant161H → P in CMTX1. Ref.30
VAR_002017
Natural variant20 – 212IG → NS in CMTX1.
VAR_029897
Natural variant201I → S in CMTX1. Ref.30
VAR_002018
Natural variant211G → D in CMTX1. Ref.30
VAR_002019
Natural variant221R → G in CMTX1; non-functional channel. Ref.17 Ref.30 Ref.31 Ref.50
VAR_002020
Natural variant221R → P in CMTX1. Ref.17 Ref.30 Ref.31
VAR_002021
Natural variant221R → Q in CMTX1; can be associated with Ile-63. Ref.16 Ref.27 Ref.30 Ref.33 Ref.36 Ref.38 Ref.39 Ref.52 Ref.56
VAR_002022
Natural variant231V → A in CMTX1. Ref.26 Ref.30
VAR_002023
Natural variant241W → C in CMTX1. Ref.59
VAR_029898
Natural variant251L → F in CMTX1. Ref.28 Ref.30
VAR_002024
Natural variant251L → P in CMTX1. Ref.52
VAR_029899
Natural variant261S → L in CMTX1. Ref.20 Ref.28 Ref.30 Ref.65
VAR_002025
Natural variant261S → W in CMTX1; severe. Ref.54
VAR_029900
Natural variant281I → IIF in CMTX1.
VAR_002027
Natural variant281I → N in CMTX1. Ref.30
VAR_029901
Natural variant281I → T in CMTX1. Ref.30 Ref.38
VAR_002026
Natural variant291F → L in CMTX1. Ref.30
VAR_002028
Natural variant301I → N in CMTX1. Ref.15 Ref.30 Ref.52
VAR_002029
Natural variant301I → T in CMTX1. Ref.38
VAR_029902
Natural variant341M → I in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques. Ref.60
VAR_029903
Natural variant341M → K in CMTX1; localized to the endoplasmic reticulum. Ref.46 Ref.60
VAR_029904
Natural variant341M → T in CMTX1; functional channel; localized in the Golgi apparatus without reaching the cell membrane. Ref.18 Ref.29 Ref.30 Ref.38 Ref.50 Ref.60
VAR_002030
Natural variant341M → V in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. Ref.24 Ref.30 Ref.31 Ref.50 Ref.60
VAR_002031
Natural variant351V → M in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.11 Ref.30 Ref.38 Ref.60
VAR_002032
Natural variant371V → M in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. Ref.32 Ref.60
VAR_029905
Natural variant381V → M in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.14 Ref.30 Ref.60
VAR_002033
Natural variant391A → P in CMTX1.
VAR_002034
Natural variant391A → V in CMTX1. Ref.39
VAR_002035
Natural variant401A → T in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.61
VAR_029906
Natural variant401A → V in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.30 Ref.60
VAR_002036
Natural variant411E → K in CMTX1. Ref.30
VAR_002037
Natural variant431V → M in CMTX1. Ref.39
VAR_002038
Natural variant441W → L in CMTX1. Ref.30
VAR_002039
Natural variant491S → P in CMTX1. Ref.62
VAR_029907
Natural variant491S → Y in CMTX1. Ref.23 Ref.30
VAR_002040
Natural variant501S → P in CMTX1. Ref.31
VAR_002041
Natural variant531C → S in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. Ref.20 Ref.30 Ref.37
VAR_002042
Natural variant551T → A in CMTX1. Ref.65
VAR_029908
Natural variant551T → I in CMTX1. Ref.40 Ref.55
VAR_008137
Natural variant551T → R in CMTX1. Ref.59
VAR_029909
Natural variant561L → F in CMTX1; functional channel. Ref.30 Ref.31 Ref.50
VAR_002043
Natural variant571Q → H in CMTX1. Ref.32 Ref.65
VAR_029910
Natural variant581P → R in CMT-1. Ref.36
VAR_002044
Natural variant591G → C in CMTX1. Ref.52
VAR_002045
Natural variant591G → R in CMTX1. Ref.45
VAR_029911
Natural variant601C → F in CMTX1; moderate. Ref.12 Ref.30 Ref.35 Ref.39
VAR_002046
Natural variant631V → I in CMTX1; can be associated with Gln-22. Ref.12 Ref.25 Ref.30 Ref.36 Ref.65
VAR_002047
Natural variant641C → F in CMTX1; moderate. Ref.54
VAR_029912
Natural variant641C → S in CMTX1. Ref.26 Ref.30
VAR_002048
Natural variant651Y → C in CMTX1. Ref.15 Ref.25 Ref.30
VAR_002049
Natural variant651Y → H in CMTX1. Ref.53
VAR_012313
Natural variant661Missing in CMTX1.
VAR_002050
Natural variant691F → L in CMTX1. Ref.48 Ref.65
VAR_029913
Natural variant701P → A in CMTX1. Ref.33
VAR_029914
Natural variant751R → P in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.30 Ref.60
VAR_002051
Natural variant751R → Q in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.18 Ref.27 Ref.30 Ref.58 Ref.60
VAR_002052
Natural variant751R → W in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.27 Ref.30 Ref.31 Ref.58 Ref.60
VAR_002053
Natural variant771W → S in CMTX1. Ref.16 Ref.30 Ref.33
VAR_002054
Natural variant801Q → R in CMTX1. Ref.16 Ref.30 Ref.33 Ref.46
VAR_002055
Natural variant811L → F in CMTX1.
VAR_002056
Natural variant831L → P in CMTX1.
VAR_002057
Natural variant841V → I in CMTX1. Ref.29 Ref.50
VAR_002058
Natural variant851S → C in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type. Ref.30 Ref.63
VAR_002059
Natural variant851S → F in CMTX1. Ref.30
VAR_002060
Natural variant861T → A in CMTX1; moderate. Ref.30 Ref.35
VAR_002061
Natural variant861T → N in CMTX1. Ref.30
VAR_002062
Natural variant861T → S in CMTX1. Ref.30
VAR_002063
Natural variant871P → A in CMTX1. Ref.28 Ref.30
VAR_002064
Natural variant871P → L in CMTX1. Ref.30
VAR_002065
Natural variant871P → S in CMTX1. Ref.25 Ref.26 Ref.30
VAR_002066
Natural variant891L → P in CMTX1. Ref.25 Ref.30
VAR_002067
Natural variant901L → H in CMTX1. Ref.24 Ref.30 Ref.31
VAR_002068
Natural variant901L → V in CMTX1. Ref.46
VAR_029915
Natural variant911V → M in CMTX1. Ref.43 Ref.50
VAR_029916
Natural variant931M → V in CMTX1. Ref.30 Ref.46
VAR_002069
Natural variant941H → D in CMTX1. Ref.50
VAR_029917
Natural variant941H → Q in CMTX1; non-functional channel. Ref.30 Ref.50
VAR_002070
Natural variant941H → Y in CMTX1. Ref.30
VAR_002071
Natural variant951V → M in CMTX1; non-functional channel. Ref.15 Ref.29 Ref.30 Ref.33 Ref.50
VAR_002072
Natural variant1001H → Y in CMTX1; mild/moderate. Ref.30 Ref.35
VAR_002073
Natural variant1021E → G in CMTX1; mild phenotype; increased sensitivity to acidification-induced closure. Ref.13 Ref.16 Ref.30 Ref.33 Ref.56 Ref.67
VAR_002074
Natural variant1021Missing in CMTX1. Ref.64
VAR_029918
Natural variant1031K → E in CMTX1. Ref.30
VAR_002075
Natural variant1041K → T in CMTX1. Ref.39
VAR_029919
Natural variant1071R → W in CMTX1. Ref.18 Ref.24 Ref.29 Ref.30 Ref.31 Ref.38 Ref.46 Ref.50
VAR_002076
Natural variant1081L → P in CMTX1. Ref.56
VAR_029920
Natural variant111 – 1166Missing in CMTX1.
VAR_002077
Natural variant1201V → E in CMTX1. Ref.40
VAR_008138
Natural variant1201Missing in CMTX1. Ref.58
VAR_029921
Natural variant1241K → N in CMTX1. Ref.30
VAR_002078
Natural variant1251V → D in CMTX1. Ref.59
VAR_029922
Natural variant1261H → Y in CMTX1. Ref.44
VAR_029923
Natural variant1271I → M in CMTX1. Ref.38
VAR_029924
Natural variant1271I → S in CMTX1. Ref.71
VAR_029925
Natural variant1281S → P in CMTX1. Ref.30
VAR_002079
Natural variant1301T → I in CMTX1. Ref.50
VAR_029926
Natural variant1311L → P in CMTX1. Ref.38
VAR_029927
Natural variant1331W → C in CMTX1; moderate. Ref.35
VAR_002080
Natural variant1331W → R in CMTX1. Ref.15 Ref.29 Ref.30 Ref.31 Ref.50
VAR_002081
Natural variant1351Y → C in CMTX1.
VAR_002082
Natural variant1361V → 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. Ref.68 Ref.72
VAR_021611
Natural variant1381S → N in CMTX1. Ref.66
VAR_029928
Natural variant1391V → M in CMTX1. Ref.10 Ref.25 Ref.27 Ref.30 Ref.39 Ref.52 Ref.58 Ref.65
VAR_002083
Natural variant1411F → L in CMTX1. Ref.29 Ref.50
VAR_002084
Natural variant1421R → E in CMTX1; requires 2 nucleotide substitutions. Ref.30
VAR_002085
Natural variant1421R → Q in CMTX1. Ref.39 Ref.48 Ref.50 Ref.65
VAR_029929
Natural variant1421R → W in CMTX1; moderate. Ref.10 Ref.13 Ref.16 Ref.24 Ref.30 Ref.31 Ref.33 Ref.39 Ref.46 Ref.54 Ref.57 Ref.65
VAR_002086
Natural variant1431Missing in CMTX1. Ref.12 Ref.30 Ref.52
VAR_002087
Natural variant1461E → K in CMTX1. Ref.58
VAR_029930
Natural variant1471A → D in CMTX1. Ref.58
VAR_029931
Natural variant1491F → I in CMTX1.
VAR_002088
Natural variant1491F → V in CMTX1; pathogenicity uncertain. Ref.39
VAR_029932
Natural variant1511Y → S in CMTX1. Ref.52
VAR_029933
Natural variant1531F → S in CMTX1. Ref.59
VAR_029934
Natural variant1561L → F in CMTX1. Ref.24 Ref.30 Ref.31
VAR_002089
Natural variant1561L → R in CMTX1. Ref.10 Ref.15 Ref.30
VAR_002090
Natural variant1571Y → C in CMTX1. Ref.30
VAR_002091
Natural variant1581P → A in CMTX1. Ref.11 Ref.29 Ref.30 Ref.38 Ref.50
VAR_002092
Natural variant1581P → R in CMTX1. Ref.30
VAR_002093
Natural variant1581P → S in CMTX1.
VAR_002094
Natural variant1591G → D in CMTX1. Ref.50
VAR_029935
Natural variant1591G → S in CMTX1. Ref.31
VAR_002095
Natural variant1601Y → H in CMTX1. Ref.30
VAR_002096
Natural variant1611A → P in CMTX1. Ref.30
VAR_002097
Natural variant1641R → Q in CMTX1. Ref.26 Ref.30 Ref.40 Ref.46 Ref.48 Ref.50 Ref.66 Ref.68
VAR_002098
Natural variant1641R → W in CMTX1; moderate. Ref.16 Ref.22 Ref.26 Ref.30 Ref.33 Ref.50 Ref.52 Ref.54
VAR_002099
Natural variant1681C → R in CMTX1; demyelinating form. Ref.68
VAR_021612
Natural variant1681C → Y in CMTX1. Ref.57
VAR_029936
Natural variant1721P → A in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. Ref.66
VAR_029937
Natural variant1721P → L in CMTX1. Ref.30 Ref.32 Ref.36
VAR_002100
Natural variant1721P → R in CMTX1. Ref.37 Ref.65
VAR_029938
Natural variant1721P → S in CMTX1. Ref.10 Ref.30
VAR_002101
Natural variant1731C → R in CMTX1.
VAR_002102
Natural variant1751N → D in CMT-1. Ref.36
VAR_002103
Natural variant1771V → A in CMTX1. Ref.32 Ref.65
VAR_029939
Natural variant1771V → E in CMTX1. Ref.39
VAR_029940
Natural variant1781D → Y in CMTX1. Ref.30
VAR_002104
Natural variant1791C → R in CMTX1. Ref.30
VAR_002105
Natural variant1801F → L in CMTX1. Ref.30
VAR_002106
Natural variant1801F → S in CMTX1. Ref.33
VAR_029941
Natural variant1811V → A in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers. Ref.67
VAR_029942
Natural variant1811V → M in CMTX1. Ref.30
VAR_002107
Natural variant1821S → T in CMTX1. Ref.11 Ref.30 Ref.38
VAR_002108
Natural variant1831R → C in CMTX1. Ref.26 Ref.30
VAR_002109
Natural variant1831R → H in CMTX1. Ref.26 Ref.30 Ref.46 Ref.65
VAR_002110
Natural variant1831R → S in CMTX1. Ref.26 Ref.30
VAR_002111
Natural variant1841P → L in CMTX1. Ref.52
VAR_029943
Natural variant1841P → R in CMTX1. Ref.31
VAR_002112
Natural variant1851Missing in CMTX1. Ref.30
VAR_002113
Natural variant1861E → K in CMTX1; non-functional channel. Ref.10 Ref.24 Ref.30 Ref.31 Ref.46 Ref.50
VAR_002114
Natural variant1871K → E in CMTX1. Ref.30
VAR_002115
Natural variant1891V → G in CMTX1. Ref.30
VAR_002116
Natural variant1891V → I in CMTX1. Ref.30
VAR_002117
Natural variant191 – 1933Missing in CMTX1.
VAR_002118
Natural variant1911T → A in CMTX1. Ref.65
VAR_029944
Natural variant1921V → F in CMTX1. Ref.38
VAR_029945
Natural variant1931F → C in CMTX1. Ref.30
VAR_002119
Natural variant1931F → L in CMTX1. Ref.46
VAR_029946
Natural variant1941M → V in CMTX1. Ref.27
VAR_002120
Natural variant1981S → F in CMTX1. Ref.30
VAR_002121
Natural variant1991G → R in CMTX1. Ref.25 Ref.30 Ref.50
VAR_002122
Natural variant2011C → R in CMTX1; severe. Ref.30 Ref.34
VAR_002123
Natural variant2011C → Y in CMTX1. Ref.65
VAR_029947
Natural variant2031I → N in CMTX1. Ref.29 Ref.50
VAR_002124
Natural variant2041L → F in CMTX1. Ref.36
VAR_002125
Natural variant2041L → V in CMTX1. Ref.30
VAR_029948
Natural variant2051N → I in CMTX1; localized to the endoplasmic reticulum. Ref.56 Ref.60
VAR_029949
Natural variant2051N → S in CMTX1; mild. Ref.29 Ref.30 Ref.35 Ref.41 Ref.50 Ref.66
VAR_002126
Natural variant2081E → G in CMTX1. Ref.51
VAR_029950
Natural variant2081E → K in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling. Ref.12 Ref.30 Ref.42 Ref.46
VAR_002127
Natural variant2091Missing in CMTX1. Ref.58
VAR_029951
Natural variant2111Y → H in CMTX1. Ref.43
VAR_029952
Natural variant213 – 2142II → L in CMTX1.
VAR_002128
Natural variant2131I → V in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.60
VAR_029953
Natural variant2151R → Q in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling. Ref.42
VAR_029954
Natural variant2151R → W in CMTX1; mild/moderate; non-functional channel. Ref.12 Ref.17 Ref.26 Ref.30 Ref.31 Ref.42 Ref.50 Ref.54 Ref.56
VAR_002129
Natural variant2191R → C in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60
VAR_002130
Natural variant2191R → H in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60
Corresponds to variant rs199834862 [ dbSNP | Ensembl ].
VAR_002131
Natural variant2201R → G in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60
VAR_002132
Natural variant2301R → C in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60
VAR_002133
Natural variant2301R → L in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60
VAR_002134
Natural variant2351F → C in CMTX1; the mutation causes abnormal hemichannel opening with excessive permeability of the plasma membrane and decreased cell survival. Ref.30 Ref.70
Corresponds to variant rs104894825 [ dbSNP | Ensembl ].
VAR_002135
Natural variant2381R → H in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.28 Ref.30 Ref.42 Ref.60
VAR_002136
Natural variant2391L → I in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.38 Ref.60
VAR_029955
Natural variant2641R → C in CMTX1. Ref.58
VAR_029956
Natural variant2801C → G in CMTX1; forms channels normally. Ref.42
VAR_029957

Experimental info

Sequence conflict16 – 172HS → IL in AAA75086. Ref.6

Sequences

Sequence LengthMass (Da)Tools
P08034 [UniParc].

Last modified August 1, 1988. Version 1.
Checksum: 8222C4811D12451E

FASTA28332,025
        10         20         30         40         50         60 
MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC 

        70         80         90        100        110        120 
NSVCYDQFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV 

       130        140        150        160        170        180 
KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCDV YPCPNTVDCF 

       190        200        210        220        230        240 
VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS 

       250        260        270        280 
PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC 

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References

« Hide 'large scale' references
[1]"Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein."
Kumar N.M., Gilula N.B.
J. Cell Biol. 103:767-776(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Liver.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Subthalamic nucleus.
[3]"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].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: Liver, Placenta and Skin.
[6]Neuhaus I.M., Bone L., Wang S., Ionasescu V., Werner R.
Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
[7]"Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations."
Milks L.C., Kumar N.M., Houghten R., Unwin N., Gilula N.B.
EMBO J. 7:2967-2975(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: TOPOLOGY.
[8]"A Calpha model for the transmembrane alpha helices of gap junction intercellular channels."
Fleishman S.J., Unger V.M., Yeager M., Ben-Tal N.
Mol. Cell 15:879-888(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: 3D-STRUCTURE MODELING OF 19-209, STRUCTURE BY ELECTRON CRYOMICROSCOPY (20 ANGSTROMS).
[9]"Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies."
Nelis E., Haites N., van Broeckhoven C.
Hum. Mutat. 13:11-28(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON CMTX1 VARIANTS.
[10]"Connexin mutations in X-linked Charcot-Marie-Tooth disease."
Bergoffen J., Schere S.S., Wang S., Oronzi Scott M., Bone L.J., Paul D.L., Chen K., Lensch M.W., Chance P.F., Fischbeck K.H.
Science 262:2039-2042(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 SER-12; MET-139; TRP-142; ARG-156; SER-172 AND LYS-186.
[11]"Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX)."
Cherryson A.K., Yeung L., Kennerson M.L., Nicholson G.A.
Am. J. Hum. Genet. 55:A216-A216(1994)
Cited for: VARIANTS CMTX1 MET-35; ALA-158; THR-182 AND 111-HIS--HIS-116 DEL.
[12]"Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."
Fairweather N., Bell C., Cochrane S., Chelly J., Wang S., Mostacciuolo M.L., Monaco A.P., Haites N.E.
Hum. Mol. Genet. 3:29-34(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 GLN-15; PHE-60; ILE-63; LEU-143 DEL; LYS-208 AND TRP-215.
[13]"Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."
Ionasescu V., Searby C., Ionasescu R.
Hum. Mol. Genet. 3:355-358(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 GLY-102 AND TRP-142.
[14]"X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32."
Orth U., Fairweather N., Exler M.-C., Schwinger E., Gal A.
Hum. Mol. Genet. 3:1699-1700(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 MET-38.
[15]"New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease."
Bone L.J., Dahl N., Lensch M.W., Chance P.F., Kelly T., le Guern E., Magi S., Parry G., Shapiro H., Wang S., Fischbeck K.H.
Neurology 45:1863-1866(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 LEU-13; ASN-30; CYS-65; MET-95; ARG-133 AND ARG-156.
[16]"Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy."
Ionasescu V., Ionasescu R., Searby C.
Am. J. Med. Genet. 63:486-491(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND TRP-164.
[17]"X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene."
Ressot C., Latour P., Blanquet-Grossard F., Sturtz F., Duthel S., Battin J., Corbillon E., Ollagnon E., Serville F., Vandenberghe A., Dautigny A., Pham-Dinh D.
Hum. Genet. 98:172-175(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 GLY-22; PRO-22 AND TRP-215.
[18]"Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease."
Tan C.C., Ainsworth P.J., Hahn A.F., Macleod P.M.
Hum. Mutat. 7:167-171(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 THR-34; GLN-75 AND TRP-107.
[19]"Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy."
Schiavon F., Fracasso C., Mostacciuolo M.L.
Hum. Mutat. 8:83-84(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 CYS-7.
[20]"Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families."
Yoshimura T., Ohnishi A., Yamamoto T., Fukushima Y., Kitani M., Kobayashi T.
Hum. Mutat. 8:270-272(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 LEU-26 AND SER-53.
[21]"A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy."
Gupta S., Benstead T., Neumann P., Guernsey D.
Hum. Mutat. 8:375-376(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 SER-3.
[22]"Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease."
Oterino A., Monton F.I., Cabrera V.M., Pinto F., Gonzalez A., Lavilla N.R.
J. Med. Genet. 33:413-415(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 TRP-164.
[23]"Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13."
Timmerman V., de Jonghe P., Spoelders P., Simokovic S., Loefgren A., Nelis E., Vance J., Martin J.-J., van Broeckhoven C.
Neurology 46:1311-1318(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X TYR-49.
[24]"New mutations in the X-linked form of Charcot-Marie-Tooth disease."
Latour P., Fabreguette A., Ressot C., Blanquet-Grossard F., Antoine J.-C., Calvas P., Chapon F., Corbillon E., Ollagnon E., Sturtz F., Boucherat M., Chazot G., Dautigny A., Pham-Dinh D., Vandenberghe A.
Eur. Neurol. 37:38-42(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X VAL-34; HIS-90; TRP-107; TRP-142; PHE-156 AND LYS-186.
[25]"Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)."
Janssen E.A.M., Kemp S., Hensels G.W., Sie O.G., de Die-Smulders C.E.M., Hoogendijk J.E., de Visser M., Bolhuis P.A.
Hum. Genet. 99:501-505(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X TRP-15; ILE-63; CYS-65; SER-87; PRO-89; MET-139 AND ARG-199.
[26]"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."
Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F., Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C., Palau F.
Hum. Genet. 99:746-754(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X ALA-23; SER-64; SER-87; TRP-164; GLN-164; SER-183; HIS-183; CYS-183 AND TRP-215.
[27]"Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance."
Silander K., Meretoja P., Pihko H., Juvonen V., Issakainen J., Aula P., Savontaus M.L.
Hum. Genet. 100:391-397(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X GLN-22; GLN-75; TRP-75; TRY-107; MET-139 AND VAL-194.
[28]"Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations."
Nelis E., Simokovic S., Timmerman V., Loefgren A., Backhovens H., de Jonghe P., Martin J.-J., Van Broeckhoven C.
Hum. Mutat. 9:47-52(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X PHE-25; LEU-26; ALA-87 AND HIS-238.
[29]"Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families."
Rouger H., Leguern E., Birouk N., Gouider R., Tardieu S., Plassart E., Gugenheim M., Vallat J.-M., Louboutin J.-P., Bouche P., Agid Y., Brice A.
Hum. Mutat. 10:443-452(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-34; ILE-84; MET-95; TRP-107; ARG-133; LEU-141; ALA-158; ASN-203; SER-205 AND 213-ILE-ILE-214 DELINS LEU.
[30]"Connexin32 and X-linked Charcot-Marie-Tooth disease."
Bone L.J., Deschenes S.M., Balice-Gordon R.J., Fischbeck K.H., Scherer S.S.
Neurobiol. Dis. 4:221-230(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X ARG-3; SER-3; CYS-7; SER-12; LEU-13; MET-13; LYS-14; GLN-15; TRP-15; PRO-16; SER-20; ASP-21; GLN-22; PRO-22; GLY-22; ALA-23; PHE-25; LEU-26; ASN-28; THR-28; LEU-29; ASN-30; THR-34; VAL-34; MET-35; MET-38; VAL-40; LYS-41; LEU-44; TYR-49; SER-53; PHE-56; PHE-60; ILE-63; SER-64; CYS-65; GLN-75; PRO-75; TRP-75; SER-77; ARG-80; CYS-85; PHE-85; ALA-86; ASN-86; SER-86; ALA-87; LEU-87; SER-87; PRO-89; HIS-90; VAL-93; GLN-94; TYR-94; MET-95; TYR-100; GLY-102; GLU-103; TRP-107; HIS-111--116-HIS DEL; ASN-124; PRO-128; ARG-133; MET-139; TRP-142; GLU-142; LEU-143 DEL; ARG-156; PHE-156; CYS-157; ALA-158; ARG-158; HIS-160; PRO-161; TRP-164; GLN-164; SER-172; LEU-172; TYR-178; ARG-179; LEU-180; MET-181; THR-182; CYS-183; SER-183; HIS-183; THR-185 DEL; LYS-186; GLU-187; GLY-189; ILE-189; 191-THR--PHE-193 DEL; CYS-193; PHE-198; ARG-199; ARG-201; VAL-204; SER-205; LYS-208; TRP-215; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; CYS-235 AND HIS-238.
[31]"Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population."
Latour P., Levy N., Paret M., Chapon F., Chazot G., Clavelou P., Couratier P., Dumas R., Ollagnon E., Pouget J., Setiey A., Vallat J.-M., Boucherat M., Fontes M., Vandenberghe A.
Neurogenetics 1:117-123(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X PRO-22; GLY-22; VAL-34; PRO-50; PHE-56; TRP-75; HIS-90; TRP-107; ARG-133; TRP-142; PHE-156; SER-159; ARG-184; LYS-186 AND TRP-215.
[32]"Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1."
Ikegami T., Lin C., Kato M., Itoh A., Nonaka I., Kurimura M., Hirayabashi H., Shinohara Y., Mochizuki A., Hayasaka K.
Am. J. Med. Genet. 80:352-355(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X MET-37; HIS-57; LEU-172 AND ALA-177.
[33]"X-linked Charcot-Marie-Tooth disease and connexin32."
Ionasescu V.V.
Cell Biol. Int. 22:807-813(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102; TRP-142; TRP-164 AND SER-180.
[34]"A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease."
Sillen A., Anneren G., Dahl N.
Hum. Mutat. Suppl. 1:S8-S9(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X ARG-201.
[35]"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."
Sorour E., Upadhyaya M.
Hum. Mutat. Suppl. 1:S242-S247(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X TRP-15; PHE-60; ALA-86; TYR-100; CYS-133 AND SER-205.
[36]"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies."
Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A., Wallden T., Herrgaard E., Aula P., Savontaus M.-L.
Hum. Mutat. 12:59-68(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204.
[37]"Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression."
Yoshimura T., Satake M., Ohnishi A., Tsutsumi Y., Fujikura Y.
J. Neurosci. Res. 51:154-161(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X SER-53 AND ARG-172, CHARACTERIZATION OF VARIANTS CMT-X SER-53 AND ARG-172.
[38]"Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations."
Nicholson G.A., Yeung L., Corbett A.
Neurology 51:1412-1416(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X TRP-9; GLN-22; THR-28; THR-30; THR-34; MET-35; TRP-107; MET-127; PRO-131; ALA-158; THR-182; PHE-192 AND ILE-239.
[39]"HMSN and HNPP. Laboratory service provision in the south west of England -- two years' experience."
Williams M.M., Tyfield L.A., Jardine P., Lunt P.W., Stevens D.L., Turnpenny P.D.
Ann. N. Y. Acad. Sci. 883:500-503(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X GLN-22; VAL-39; MET-43; PHE-60; THR-104; MET-139; GLN-142; TRP-142; VAL-149 AND GLU-177.
[40]"Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E."
Karadimas C., Panas M., Chronopoulou P., Avramopoulos D., Vassilopoulos D.
Hum. Mutat. 13:339-339(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X ILE-55; GLU-120 AND GLN-164.
[41]"Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene."
Baehr M., Andres F., Timmerman V., Nelis M.E., Van Broeckhoven C., Dichgans J.
J. Neurol. Neurosurg. Psych. 66:202-206(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X SER-205.
[42]"Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations."
Castro C., Gomez-Hernandez J.M., Silander K., Barrio L.C.
J. Neurosci. 19:3752-3760(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CMT-X LYS-208; GLN-215; TRP-215; HIS-238 AND GLY-280.
[43]"Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients."
Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P., Vandenberghe A., Battaloglu E.
Clin. Genet. 58:396-402(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X MET-91 AND HIS-211.
[44]"A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation."
Verhelst H.E., Lofgren A., Van Coster R.N.
Eur. J. Paediatr. Neurol. 4:235-238(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X TYR-126.
[45]"Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene."
Felice K.J., Seltzer W.K.
Eur. Neurol. 44:61-63(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X ARG-59.
[46]"Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."
Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.
Hum. Mutat. 15:340-347(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X 20-ASN-SER-21; LYS-34; ARG-80; VAL-90; VAL-93; TRP-107; TRP-142; GLN-164; HIS-183; LYS-186; LEU-193 AND LYS-208.
[47]Erratum
Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P., Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.
Hum. Mutat. 16:175-175(2000)
[48]"Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease."
Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y., Mokuno K., Mitsuma T., Sobue G.
Hum. Mutat. 16:177-178(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X LEU-69; GLN-142 AND GLN-164.
[49]"A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease."
Di Iorio G., Cappa V., Ciccodicola A., Sampaolo S., Ammendola A., Sanges G., Giugliano R., D'Urso M.
Neurol. Sci. 21:109-112(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X ILE-8.
[50]"Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease."
Dubourg O., Tardieu S., Birouk N., Gouider R., Leger J.M., Maisonobe T., Brice A., Bouche P., LeGuern E.
Brain 124:1958-1967(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X GLY-22; THR-34; VAL-34; PHE-56; ILE-84; MET-91; ASP-94; GLN-94; MET-95; TRP-107; ILE-130; ARG-133; LEU-141; GLN-142; ALA-158; ASP-159; TRP-164; GLN-164; LYS-186; ARG-199; ASN-203; SER-205; 213-ILE-ILE-214 DELINS LEU AND TRP-215, CHARACTERIZATION OF VARIANTS CMT-X GLY-22; THR-34; PHE-56; GLN-94; MET-95; LYS-186 AND TRP-215.
[51]"A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease."
Kochanski A., Lofgren A., Jedrzejowska H., Ryniewicz B., Czarny-Ratajczak M., Barciszewska A.-M., Samocko J., Hausmanowa-Petrusewicz I., De Jonghe P., Timmerman V., Latos-Bielenska A.
Hum. Mutat. 17:157-157(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X GLY-208.
[52]"Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."
Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F., Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M., Baratta S., Taroni F.
Hum. Mutat. 18:32-41(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X CYS-7; PRO-8; GLN-22; PRO-25; ASN-30; CYS-59; MET-139; LEU-143 DEL; SER-151; TRP-164 AND LEU-184.
[53]"Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with central conduction slowing."
Seeman P., Mazanec R., Ctvrteckova M., Smilkova D.
Int. J. Mol. Med. 8:461-468(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT-X HIS-65.
[54]"Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity."
Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H., Halfter H., Funke H., Ringelstein E.B., Stoegbauer F.
J. Neurol. 248:410-415(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMT-X TRP-26; PHE-64; TRP-142; TRP-164 AND TRP-215.
[55]"Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene."
Panas M., Kalfakis N., Karadimas C., Vassilopoulos D.
Neurology 57:1906-1908(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 ILE-55.
[56]"Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."
Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P., Butler I.J., Krajewski K., Shy M., Lupski J.R.
Ann. Neurol. 51:190-201(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 TRP-15; GLN-22; GLY-102; PRO-108; ILE-205 AND TRP-215.
[57]"Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease."
Paulson H.L., Garbern J.Y., Hoban T.F., Krajewski K.M., Lewis R.A., Fischbeck K.H., Grossman R.I., Lenkinski R., Kamholz J.A., Shy M.E.
Ann. Neurol. 52:429-434(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 TRP-142 AND TYR-168.
[58]"Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."
Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K.
Hum. Mutat. 20:392-398(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 TRP-75; GLN-75; VAL-120 DEL; MET-139; LYS-146; ASP-147; VAL-209 DEL AND CYS-264.
[59]"Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease."
Lee M.-J., Nelson I., Houlden H., Sweeney M.G., Hilton-Jones D., Blake J., Wood N.W., Reilly M.M.
J. Neurol. Neurosurg. Psych. 73:304-306(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 CYS-24; ARG-55; ASP-125 AND SER-153.
[60]"Diverse trafficking abnormalities of connexin32 mutants causing CMTX."
Yum S.W., Kleopa K.A., Shumas S., Scherer S.S.
Neurobiol. Dis. 11:43-52(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CMTX ILE-34; LYS-34; THR-34; VAL-34; MET-35; MET-37; MET-38; VAL-40; GLN-75; PRO-75; TRP-75; ILE-205; VAL-213; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; HIS-238 AND ILE-239.
[61]"X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene."
Ma W., Farrukh Nizam M., Grewal R.P.
Neurol. Sci. 23:195-197(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 THR-40.
[62]"Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes."
Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T., Kraft G.H., Bird T.D.
Neuromuscul. Disord. 12:643-650(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 PRO-49.
[63]"Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease."
Abrams C.K., Bennett M.V.L., Verselis V.K., Bargiello T.A.
Proc. Natl. Acad. Sci. U.S.A. 99:3980-3984(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CMTX1 CYS-85.
[64]"Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation."
Hanemann C.O., Bergmann C., Senderek J., Zerres K., Sperfeld A.-D.
Arch. Neurol. 60:605-609(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 GLU-102 DEL.
[65]"Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients."
The study group for hereditary neuropathy in Japan
Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa H., Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H., Saito T., Nakashima K., Kira J., Kaji R., Oka N., Sobue G.
Brain 126:134-151(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139; GLN-142; TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201.
[66]"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."
Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M., Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W.
Hum. Mutat. 21:100-100(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 7-TYR-THR-8 DELINS SER; ASN-138; GLN-164; ALA-172 AND SER-205.
[67]"Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32."
Abrams C.K., Freidin M., Bukauskas F., Dobrenis K., Bargiello T.A., Verselis V.K., Bennett M.V.L., Chen L., Sahenk Z.
J. Neurosci. 23:10548-10558(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 GLY-102 AND ALA-181, CHARACTERIZATION OF VARIANTS CMTX1 GLY-102 AND ALA-181.
[68]"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients."
Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K., Sunwoo I.N., Kim N.K., Chung K.W.
Hum. Mutat. 24:185-186(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTX1 ALA-136; GLN-164 AND ARG-168.
[69]Erratum
Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K., Sunwoo I.N., Kim N.K., Chung K.W.
Hum. Mutat. 24:350-350(2004)
[70]"Severe neuropathy with leaky connexin32 hemichannels."
Liang G.S.L., de Miguel M., Gomez-Hernandez J.M., Glass J.D., Scherer S.S., Mintz M., Barrio L.C., Fischbeck K.H.
Ann. Neurol. 57:749-754(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 CYS-235, CHARACTERIZATION OF VARIANT CMTX1 CYS-235.
[71]"X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene."
Vondracek P., Seeman P., Hermanova M., Fajkusova L.
Muscle Nerve 31:252-255(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMTX1 SER-127.
[72]"Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family."
Chung K.W., Sunwoo I.N., Kim S.M., Park K.D., Kim W.-K., Kim T.S., Koo H., Cho M., Lee J., Choi B.O.
Neurogenetics 6:159-163(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DSS ALA-136.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X04325 mRNA. Translation: CAA27856.1.
AK313474 mRNA. Translation: BAG36259.1.
BT019329 mRNA. Translation: AAV38136.1.
CH471132 Genomic DNA. Translation: EAX05305.1.
CH471132 Genomic DNA. Translation: EAX05306.1.
BC002805 mRNA. Translation: AAH02805.1.
BC022426 mRNA. Translation: AAH22426.1.
BC039198 mRNA. Translation: AAH39198.1.
L47127 Genomic DNA. Translation: AAA75086.1.
PIRB29005.
RefSeqNP_000157.1. NM_000166.5.
NP_001091111.1. NM_001097642.2.
UniGeneHs.333303.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1TXHmodel-A/B/C/D/E/F19-209[»]
ProteinModelPortalP08034.
SMRP08034. Positions 2-215.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108971. 7 interactions.
STRING9606.ENSP00000354900.

Chemistry

GuidetoPHARMACOLOGY723.

Protein family/group databases

TCDB1.A.24.1.3. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSiteP08034.

Polymorphism databases

DMDM117688.

Proteomic databases

PaxDbP08034.
PRIDEP08034.

Protocols and materials databases

DNASU2705.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361726; ENSP00000354900; ENSG00000169562.
ENST00000374022; ENSP00000363134; ENSG00000169562.
ENST00000374029; ENSP00000363141; ENSG00000169562.
GeneID2705.
KEGGhsa:2705.
UCSCuc004dzf.3. human.

Organism-specific databases

CTD2705.
GeneCardsGC0XP070435.
HGNCHGNC:4283. GJB1.
HPACAB012994.
HPA010663.
MIM145900. phenotype.
302800. phenotype.
304040. gene.
neXtProtNX_P08034.
Orphanet101075. X-linked Charcot-Marie-Tooth disease type 1.
1175. X-linked progressive cerebellar ataxia.
PharmGKBPA28694.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39645.
HOGENOMHOG000231127.
HOVERGENHBG009576.
InParanoidP08034.
KOK07620.
OMAKGDRCSA.
OrthoDBEOG7P2XSS.
PhylomeDBP08034.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressP08034.
BgeeP08034.
CleanExHS_GJB1.
GenevestigatorP08034.

Family and domain databases

InterProIPR000500. Connexin.
IPR002267. Connexin32.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
PR01138. CONNEXINB1.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJB1.
GenomeRNAi2705.
NextBio10692.
PROP08034.
SOURCESearch...

Entry information

Entry nameCXB1_HUMAN
AccessionPrimary (citable) accession number: P08034
Secondary accession number(s): B2R8R2, D3DVV2, Q5U0S4
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: April 16, 2014
This is version 157 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM