P08034 (CXB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	283 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › gap 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.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Disease	Charcot-Marie-Tooth disease Dejerine-Sottas syndrome Disease mutation Neuropathy
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell-cell signaling Traceable author statement Ref.10. Source: ProtInc cellular membrane organization Traceable author statement. Source: Reactome gap junction assembly Traceable author statement. Source: Reactome nervous system development Traceable author statement Ref.10. Source: ProtInc protein oligomerization Inferred from electronic annotation. Source: Compara purine ribonucleotide transport Inferred from electronic annotation. Source: Compara transport Traceable author statement Ref.1. Source: ProtInc
Cellular_component	connexon complex Traceable author statement Ref.1. Source: ProtInc endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	gap junction channel activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 283	283	Gap junction beta-1 protein		PRO_0000057849
Regions
	Topological domain	1 – 22	22	Cytoplasmic Probable
	Transmembrane	23 – 45	23	Helical; Probable
	Topological domain	46 – 75	30	Extracellular Probable
	Transmembrane	76 – 95	20	Helical; Probable
	Topological domain	96 – 130	35	Cytoplasmic Probable
	Transmembrane	131 – 153	23	Helical; Probable
	Topological domain	154 – 191	38	Extracellular Probable
	Transmembrane	192 – 214	23	Helical; Probable
	Topological domain	215 – 283	69	Cytoplasmic Probable
Amino acid modifications
	Modified residue	258	1	Phosphoserine By similarity
	Modified residue	266	1	Phosphoserine By similarity
Natural variations
	Natural variant	3	1	W → R in CMTX1. Ref.30		VAR_002006
	Natural variant	3	1	W → S in CMTX1. Ref.16 Ref.21 Ref.30 Ref.33		VAR_002007
	Natural variant	7 – 8	2	YT → S in CMTX1. Ref.30		VAR_029894
	Natural variant	7	1	Y → C in CMTX1. Ref.19 Ref.30 Ref.52		VAR_002008
	Natural variant	8	1	T → I in CMTX1. Ref.49		VAR_029895
	Natural variant	8	1	T → P in CMTX1. Ref.52		VAR_002009
	Natural variant	9	1	L → W in CMTX1. Ref.38		VAR_029896
	Natural variant	11	1	S → G in CMTX1.		VAR_002010
	Natural variant	12	1	G → S in CMTX1. Ref.10 Ref.30		VAR_002011
	Natural variant	13	1	V → L in CMTX1. Ref.15 Ref.30		VAR_002012
	Natural variant	13	1	V → M in CMTX1. Ref.30		VAR_002013
	Natural variant	14	1	N → K in CMTX1. Ref.30		VAR_002014
	Natural variant	15	1	R → Q in CMTX1. Ref.12 Ref.30		VAR_002015
	Natural variant	15	1	R → W in CMTX1; moderate. Ref.25 Ref.30 Ref.35 Ref.56		VAR_002016
	Natural variant	16	1	H → P in CMTX1. Ref.30		VAR_002017
	Natural variant	20 – 21	2	IG → NS in CMTX1.		VAR_029897
	Natural variant	20	1	I → S in CMTX1. Ref.30		VAR_002018
	Natural variant	21	1	G → D in CMTX1. Ref.30		VAR_002019
	Natural variant	22	1	R → G in CMTX1; non-functional channel. Ref.17 Ref.30 Ref.31 Ref.50		VAR_002020
	Natural variant	22	1	R → P in CMTX1. Ref.17 Ref.30 Ref.31		VAR_002021
	Natural variant	22	1	R → 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 variant	23	1	V → A in CMTX1. Ref.26 Ref.30		VAR_002023
	Natural variant	24	1	W → C in CMTX1. Ref.59		VAR_029898
	Natural variant	25	1	L → F in CMTX1. Ref.28 Ref.30		VAR_002024
	Natural variant	25	1	L → P in CMTX1. Ref.52		VAR_029899
	Natural variant	26	1	S → L in CMTX1. Ref.20 Ref.28 Ref.30 Ref.65		VAR_002025
	Natural variant	26	1	S → W in CMTX1; severe. Ref.54		VAR_029900
	Natural variant	28	1	I → IIF in CMTX1.		VAR_002027
	Natural variant	28	1	I → N in CMTX1. Ref.30		VAR_029901
	Natural variant	28	1	I → T in CMTX1. Ref.30 Ref.38		VAR_002026
	Natural variant	29	1	F → L in CMTX1. Ref.30		VAR_002028
	Natural variant	30	1	I → N in CMTX1. Ref.15 Ref.30 Ref.52		VAR_002029
	Natural variant	30	1	I → T in CMTX1. Ref.38		VAR_029902
	Natural variant	34	1	M → I in CMTX1; localized in the Golgi apparatus but also forming rare small junction-like plaques. Ref.60		VAR_029903
	Natural variant	34	1	M → K in CMTX1; localized to the endoplasmic reticulum. Ref.46 Ref.60		VAR_029904
	Natural variant	34	1	M → 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 variant	34	1	M → 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 variant	35	1	V → 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 variant	37	1	V → M in CMTX1; localized in the Golgi apparatus but also forming rare small gap junction-like plaques. Ref.32 Ref.60		VAR_029905
	Natural variant	38	1	V → M in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.14 Ref.30 Ref.60		VAR_002033
	Natural variant	39	1	A → P in CMTX1.		VAR_002034
	Natural variant	39	1	A → V in CMTX1. Ref.39		VAR_002035
	Natural variant	40	1	A → T in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.61		VAR_029906
	Natural variant	40	1	A → V in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.30 Ref.60		VAR_002036
	Natural variant	41	1	E → K in CMTX1. Ref.30		VAR_002037
	Natural variant	43	1	V → M in CMTX1. Ref.39		VAR_002038
	Natural variant	44	1	W → L in CMTX1. Ref.30		VAR_002039
	Natural variant	49	1	S → P in CMTX1. Ref.62		VAR_029907
	Natural variant	49	1	S → Y in CMTX1. Ref.23 Ref.30		VAR_002040
	Natural variant	50	1	S → P in CMTX1. Ref.31		VAR_002041
	Natural variant	53	1	C → S in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. Ref.20 Ref.30 Ref.37		VAR_002042
	Natural variant	55	1	T → A in CMTX1. Ref.65		VAR_029908
	Natural variant	55	1	T → I in CMTX1. Ref.40 Ref.55		VAR_008137
	Natural variant	55	1	T → R in CMTX1. Ref.59		VAR_029909
	Natural variant	56	1	L → F in CMTX1; functional channel. Ref.30 Ref.31 Ref.50		VAR_002043
	Natural variant	57	1	Q → H in CMTX1. Ref.32 Ref.65		VAR_029910
	Natural variant	58	1	P → R in CMT-1. Ref.36		VAR_002044
	Natural variant	59	1	G → C in CMTX1. Ref.52		VAR_002045
	Natural variant	59	1	G → R in CMTX1. Ref.45		VAR_029911
	Natural variant	60	1	C → F in CMTX1; moderate. Ref.12 Ref.30 Ref.35 Ref.39		VAR_002046
	Natural variant	63	1	V → I in CMTX1; can be associated with Gln-22. Ref.12 Ref.25 Ref.30 Ref.36 Ref.65		VAR_002047
	Natural variant	64	1	C → F in CMTX1; moderate. Ref.54		VAR_029912
	Natural variant	64	1	C → S in CMTX1. Ref.26 Ref.30		VAR_002048
	Natural variant	65	1	Y → C in CMTX1. Ref.15 Ref.25 Ref.30		VAR_002049
	Natural variant	65	1	Y → H in CMTX1. Ref.53		VAR_012313
	Natural variant	66	1	Missing in CMTX1.		VAR_002050
	Natural variant	69	1	F → L in CMTX1. Ref.48 Ref.65		VAR_029913
	Natural variant	70	1	P → A in CMTX1. Ref.33		VAR_029914
	Natural variant	75	1	R → P in CMTX1; localized in the Golgi apparatus without reaching the cell membrane. Ref.30 Ref.60		VAR_002051
	Natural variant	75	1	R → 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 variant	75	1	R → 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 variant	77	1	W → S in CMTX1. Ref.16 Ref.30 Ref.33		VAR_002054
	Natural variant	80	1	Q → R in CMTX1. Ref.16 Ref.30 Ref.33 Ref.46		VAR_002055
	Natural variant	81	1	L → F in CMTX1.		VAR_002056
	Natural variant	83	1	L → P in CMTX1.		VAR_002057
	Natural variant	84	1	V → I in CMTX1. Ref.29 Ref.50		VAR_002058
	Natural variant	85	1	S → C in CMTX1; mutant have a higher open probability than hemichannels formed of GJB1 wild-type. Ref.30 Ref.63		VAR_002059
	Natural variant	85	1	S → F in CMTX1. Ref.30		VAR_002060
	Natural variant	86	1	T → A in CMTX1; moderate. Ref.30 Ref.35		VAR_002061
	Natural variant	86	1	T → N in CMTX1. Ref.30		VAR_002062
	Natural variant	86	1	T → S in CMTX1. Ref.30		VAR_002063
	Natural variant	87	1	P → A in CMTX1. Ref.28 Ref.30		VAR_002064
	Natural variant	87	1	P → L in CMTX1. Ref.30		VAR_002065
	Natural variant	87	1	P → S in CMTX1. Ref.25 Ref.26 Ref.30		VAR_002066
	Natural variant	89	1	L → P in CMTX1. Ref.25 Ref.30		VAR_002067
	Natural variant	90	1	L → H in CMTX1. Ref.24 Ref.30 Ref.31		VAR_002068
	Natural variant	90	1	L → V in CMTX1. Ref.46		VAR_029915
	Natural variant	91	1	V → M in CMTX1. Ref.43 Ref.50		VAR_029916
	Natural variant	93	1	M → V in CMTX1. Ref.30 Ref.46		VAR_002069
	Natural variant	94	1	H → D in CMTX1. Ref.50		VAR_029917
	Natural variant	94	1	H → Q in CMTX1; non-functional channel. Ref.30 Ref.50		VAR_002070
	Natural variant	94	1	H → Y in CMTX1. Ref.30		VAR_002071
	Natural variant	95	1	V → M in CMTX1; non-functional channel. Ref.15 Ref.29 Ref.30 Ref.33 Ref.50		VAR_002072
	Natural variant	100	1	H → Y in CMTX1; mild/moderate. Ref.30 Ref.35		VAR_002073
	Natural variant	102	1	E → 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 variant	102	1	Missing in CMTX1. Ref.64		VAR_029918
	Natural variant	103	1	K → E in CMTX1. Ref.30		VAR_002075
	Natural variant	104	1	K → T in CMTX1. Ref.39		VAR_029919
	Natural variant	107	1	R → W in CMTX1. Ref.18 Ref.24 Ref.29 Ref.30 Ref.31 Ref.38 Ref.46 Ref.50		VAR_002076
	Natural variant	108	1	L → P in CMTX1. Ref.56		VAR_029920
	Natural variant	111 – 116	6	Missing in CMTX1.		VAR_002077
	Natural variant	120	1	V → E in CMTX1. Ref.40		VAR_008138
	Natural variant	120	1	Missing in CMTX1. Ref.58		VAR_029921
	Natural variant	124	1	K → N in CMTX1. Ref.30		VAR_002078
	Natural variant	125	1	V → D in CMTX1. Ref.59		VAR_029922
	Natural variant	126	1	H → Y in CMTX1. Ref.44		VAR_029923
	Natural variant	127	1	I → M in CMTX1. Ref.38		VAR_029924
	Natural variant	127	1	I → S in CMTX1. Ref.71		VAR_029925
	Natural variant	128	1	S → P in CMTX1. Ref.30		VAR_002079
	Natural variant	130	1	T → I in CMTX1. Ref.50		VAR_029926
	Natural variant	131	1	L → P in CMTX1. Ref.38		VAR_029927
	Natural variant	133	1	W → C in CMTX1; moderate. Ref.35		VAR_002080
	Natural variant	133	1	W → R in CMTX1. Ref.15 Ref.29 Ref.30 Ref.31 Ref.50		VAR_002081
	Natural variant	135	1	Y → C in CMTX1.		VAR_002082
	Natural variant	136	1	V → 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 variant	138	1	S → N in CMTX1. Ref.66		VAR_029928
	Natural variant	139	1	V → M in CMTX1. Ref.10 Ref.25 Ref.27 Ref.30 Ref.39 Ref.52 Ref.58 Ref.65		VAR_002083
	Natural variant	141	1	F → L in CMTX1. Ref.29 Ref.50		VAR_002084
	Natural variant	142	1	R → E in CMTX1; requires 2 nucleotide substitutions. Ref.30		VAR_002085
	Natural variant	142	1	R → Q in CMTX1. Ref.39 Ref.48 Ref.50 Ref.65		VAR_029929
	Natural variant	142	1	R → 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 variant	143	1	Missing in CMTX1. Ref.12 Ref.30 Ref.52		VAR_002087
	Natural variant	146	1	E → K in CMTX1. Ref.58		VAR_029930
	Natural variant	147	1	A → D in CMTX1. Ref.58		VAR_029931
	Natural variant	149	1	F → I in CMTX1.		VAR_002088
	Natural variant	149	1	F → V in CMTX1; pathogenicity uncertain. Ref.39		VAR_029932
	Natural variant	151	1	Y → S in CMTX1. Ref.52		VAR_029933
	Natural variant	153	1	F → S in CMTX1. Ref.59		VAR_029934
	Natural variant	156	1	L → F in CMTX1. Ref.24 Ref.30 Ref.31		VAR_002089
	Natural variant	156	1	L → R in CMTX1. Ref.10 Ref.15 Ref.30		VAR_002090
	Natural variant	157	1	Y → C in CMTX1. Ref.30		VAR_002091
	Natural variant	158	1	P → A in CMTX1. Ref.11 Ref.29 Ref.30 Ref.38 Ref.50		VAR_002092
	Natural variant	158	1	P → R in CMTX1. Ref.30		VAR_002093
	Natural variant	158	1	P → S in CMTX1.		VAR_002094
	Natural variant	159	1	G → D in CMTX1. Ref.50		VAR_029935
	Natural variant	159	1	G → S in CMTX1. Ref.31		VAR_002095
	Natural variant	160	1	Y → H in CMTX1. Ref.30		VAR_002096
	Natural variant	161	1	A → P in CMTX1. Ref.30		VAR_002097
	Natural variant	164	1	R → Q in CMTX1. Ref.26 Ref.30 Ref.40 Ref.46 Ref.48 Ref.50 Ref.66 Ref.68		VAR_002098
	Natural variant	164	1	R → W in CMTX1; moderate. Ref.16 Ref.22 Ref.26 Ref.30 Ref.33 Ref.50 Ref.52 Ref.54		VAR_002099
	Natural variant	168	1	C → R in CMTX1; demyelinating form. Ref.68		VAR_021612
	Natural variant	168	1	C → Y in CMTX1. Ref.57		VAR_029936
	Natural variant	172	1	P → A in CMTX1; suggests a failure to incorporate the mutant protein in the cell membrane. Ref.66		VAR_029937
	Natural variant	172	1	P → L in CMTX1. Ref.30 Ref.32 Ref.36		VAR_002100
	Natural variant	172	1	P → R in CMTX1. Ref.37 Ref.65		VAR_029938
	Natural variant	172	1	P → S in CMTX1. Ref.10 Ref.30		VAR_002101
	Natural variant	173	1	C → R in CMTX1.		VAR_002102
	Natural variant	175	1	N → D in CMT-1. Ref.36		VAR_002103
	Natural variant	177	1	V → A in CMTX1. Ref.32 Ref.65		VAR_029939
	Natural variant	177	1	V → E in CMTX1. Ref.39		VAR_029940
	Natural variant	178	1	D → Y in CMTX1. Ref.30		VAR_002104
	Natural variant	179	1	C → R in CMTX1. Ref.30		VAR_002105
	Natural variant	180	1	F → L in CMTX1. Ref.30		VAR_002106
	Natural variant	180	1	F → S in CMTX1. Ref.33		VAR_029941
	Natural variant	181	1	V → A in CMTX1; profoundly impaired in their ability to support the earliest stages of regeneration of myelinated fibers. Ref.67		VAR_029942
	Natural variant	181	1	V → M in CMTX1. Ref.30		VAR_002107
	Natural variant	182	1	S → T in CMTX1. Ref.11 Ref.30 Ref.38		VAR_002108
	Natural variant	183	1	R → C in CMTX1. Ref.26 Ref.30		VAR_002109
	Natural variant	183	1	R → H in CMTX1. Ref.26 Ref.30 Ref.46 Ref.65		VAR_002110
	Natural variant	183	1	R → S in CMTX1. Ref.26 Ref.30		VAR_002111
	Natural variant	184	1	P → L in CMTX1. Ref.52		VAR_029943
	Natural variant	184	1	P → R in CMTX1. Ref.31		VAR_002112
	Natural variant	185	1	Missing in CMTX1. Ref.30		VAR_002113
	Natural variant	186	1	E → K in CMTX1; non-functional channel. Ref.10 Ref.24 Ref.30 Ref.31 Ref.46 Ref.50		VAR_002114
	Natural variant	187	1	K → E in CMTX1. Ref.30		VAR_002115
	Natural variant	189	1	V → G in CMTX1. Ref.30		VAR_002116
	Natural variant	189	1	V → I in CMTX1. Ref.30		VAR_002117
	Natural variant	191 – 193	3	Missing in CMTX1.		VAR_002118
	Natural variant	191	1	T → A in CMTX1. Ref.65		VAR_029944
	Natural variant	192	1	V → F in CMTX1. Ref.38		VAR_029945
	Natural variant	193	1	F → C in CMTX1. Ref.30		VAR_002119
	Natural variant	193	1	F → L in CMTX1. Ref.46		VAR_029946
	Natural variant	194	1	M → V in CMTX1. Ref.27		VAR_002120
	Natural variant	198	1	S → F in CMTX1. Ref.30		VAR_002121
	Natural variant	199	1	G → R in CMTX1. Ref.25 Ref.30 Ref.50		VAR_002122
	Natural variant	201	1	C → R in CMTX1; severe. Ref.30 Ref.34		VAR_002123
	Natural variant	201	1	C → Y in CMTX1. Ref.65		VAR_029947
	Natural variant	203	1	I → N in CMTX1. Ref.29 Ref.50		VAR_002124
	Natural variant	204	1	L → F in CMTX1. Ref.36		VAR_002125
	Natural variant	204	1	L → V in CMTX1. Ref.30		VAR_029948
	Natural variant	205	1	N → I in CMTX1; localized to the endoplasmic reticulum. Ref.56 Ref.60		VAR_029949
	Natural variant	205	1	N → S in CMTX1; mild. Ref.29 Ref.30 Ref.35 Ref.41 Ref.50 Ref.66		VAR_002126
	Natural variant	208	1	E → G in CMTX1. Ref.51		VAR_029950
	Natural variant	208	1	E → 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 variant	209	1	Missing in CMTX1. Ref.58		VAR_029951
	Natural variant	211	1	Y → H in CMTX1. Ref.43		VAR_029952
	Natural variant	213 – 214	2	II → L in CMTX1.		VAR_002128
	Natural variant	213	1	I → V in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.60		VAR_029953
	Natural variant	215	1	R → Q in CMTX1; non-detectable levels of hemichannel activation and non-detectable levels of electrical coupling. Ref.42		VAR_029954
	Natural variant	215	1	R → 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 variant	219	1	R → C in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60		VAR_002130
	Natural variant	219	1	R → H in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60		VAR_002131
	Natural variant	220	1	R → G in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60		VAR_002132
	Natural variant	230	1	R → C in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60		VAR_002133
	Natural variant	230	1	R → L in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.30 Ref.60		VAR_002134
	Natural variant	235	1	F → C in CMTX1; the mutation causes abnormal hemichannel opening with excessive permeability of the plasma membrane and decreased cell survival. Ref.30 Ref.70		VAR_002135
	Natural variant	238	1	R → 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 variant	239	1	L → I in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques. Ref.38 Ref.60		VAR_029955
	Natural variant	264	1	R → C in CMTX1. Ref.58		VAR_029956
	Natural variant	280	1	C → G in CMTX1; forms channels normally. Ref.42		VAR_029957
Experimental info
	Sequence conflict	16 – 17	2	HS → IL in AAA75086. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	P08034 [UniParc]. Last modified August 1, 1988. Version 1. Checksum: 8222C4811D12451E	FASTA	283	32,025
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

Inherited peripheral neuropathies mutation db

Connexin-deafness homepage

GeneReviews

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.

IPI

IPI00027190.

PIR

B29005.

RefSeq

NP_000157.1. NM_000166.5.
NP_001091111.1. NM_001097642.2.

UniGene

Hs.333303.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1TXH	model	-	A/B/C/D/E/F	19-209	[»]

ProteinModelPortal

P08034.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000354900.

Protein family/group databases

TCDB

1.A.24.1.3. gap junction-forming connexin family.

PTM databases

PhosphoSite

P08034.

Polymorphism databases

DMDM

117688.

Proteomic databases

PaxDb

P08034.

PRIDE

P08034.

Protocols and materials databases

DNASU

2705.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000361726; ENSP00000354900; ENSG00000169562.
ENST00000374022; ENSP00000363134; ENSG00000169562.
ENST00000374029; ENSP00000363141; ENSG00000169562.

GeneID

2705.

KEGG

hsa:2705.

UCSC

uc004dzf.3. human.

Organism-specific databases

CTD

2705.

GeneCards

GC0XP070435.

HGNC

HGNC:4283. GJB1.

HPA

CAB012994.
HPA010663.

MIM

145900. phenotype.
302800. phenotype.
304040. gene.

neXtProt

NX_P08034.

Orphanet

101075. X-linked Charcot-Marie-Tooth disease type 1.

PharmGKB

PA28694.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG39645.

HOGENOM

HOG000231127.

HOVERGEN

HBG009576.

InParanoid

P08034.

KO

K07620.

OMA

KGDRCSA.

OrthoDB

EOG4PVP0F.

PhylomeDB

P08034.

Enzyme and pathway databases

Reactome

REACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpress

P08034.

Bgee

P08034.

CleanEx

HS_GJB1.

Genevestigator

P08034.

GermOnline

ENSG00000169562. Homo sapiens.

Family and domain databases

InterPro

IPR000500. Connexin.
IPR002267. Connexin32.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]

PANTHER

PTHR11984. PTHR11984. 1 hit.

Pfam

PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]

PRINTS

PR00206. CONNEXIN.
PR01138. CONNEXINB1.

SMART

SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]

PROSITE

PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

2705.

NextBio

10692.

SOURCE

Search...

Entry information

Entry name

CXB1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 148 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.