Description: Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 2, mRNA. RefSeq Summary (NM_000166): This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chrX:70,443,056-70,445,065 Size: 2,010 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chrX:70,443,558-70,444,409 Size: 852 Coding Exon Count: 1
ID:CXB1_HUMAN DESCRIPTION: RecName: Full=Gap junction beta-1 protein; AltName: Full=Connexin-32; Short=Cx32; AltName: Full=GAP junction 28 kDa liver protein; 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: 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. DISEASE: Defects in GJB1 are the cause of Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]; also designated CMT- X. CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. 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. DISEASE: Defects in GJB1 may contribute to the phenotype of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is 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. SIMILARITY: Belongs to the connexin family. Beta-type (group I) subfamily. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=Connexin-deafness homepage; URL="http://davinci.crg.es/deafness/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB1";
Charcot-Marie-Tooth disease Lin C et al. 1999, Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease., The Tohoku journal of experimental medicine. 1999 Jul;188(3):239-44.
[PubMed 10587015]
Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease Luo W et al. 2002, A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing, Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):367-9.
[PubMed 12362307]
This mutation has not been reported previously. Central nervous system can be affected in CMT patients.
Charcot-Marie-Tooth disease Meggouh F et al. 1998, The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease., Journal of medical genetics. 1998 Mar;35(3):251-2.
[PubMed 9541114]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08034
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC039198 - Homo sapiens gap junction protein, beta 1, 32kDa, mRNA (cDNA clone MGC:22506 IMAGE:4710239), complete cds. X04325 - Human liver mRNA for gap junction protein. BC022426 - Homo sapiens gap junction protein, beta 1, 32kDa, mRNA (cDNA clone MGC:24660 IMAGE:4252281), complete cds. AK313474 - Homo sapiens cDNA, FLJ94021, Homo sapiens gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) (GJB1), mRNA. JD253340 - Sequence 234364 from Patent EP1572962. JD316740 - Sequence 297764 from Patent EP1572962. BC002805 - Homo sapiens gap junction protein, beta 1, 32kDa, mRNA (cDNA clone MGC:3705 IMAGE:3638623), complete cds. JD545051 - Sequence 526075 from Patent EP1572962. JD344390 - Sequence 325414 from Patent EP1572962. AB590364 - Synthetic construct DNA, clone: pFN21AB7117, Homo sapiens GJB1 gene for gap junction protein, beta 1, 32kDa, without stop codon, in Flexi system. BT019329 - Homo sapiens gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) mRNA, complete cds. DQ893515 - Synthetic construct clone IMAGE:100006145; FLH194843.01X; RZPDo839F0880D gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) (GJB1) gene, encodes complete protein. DQ896494 - Synthetic construct Homo sapiens clone IMAGE:100010954; FLH194839.01L; RZPDo839F0870D gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) (GJB1) gene, encodes complete protein. JD065152 - Sequence 46176 from Patent EP1572962. JD460618 - Sequence 441642 from Patent EP1572962. JD319863 - Sequence 300887 from Patent EP1572962. JD208306 - Sequence 189330 from Patent EP1572962. JD396288 - Sequence 377312 from Patent EP1572962. JD318173 - Sequence 299197 from Patent EP1572962. JD393238 - Sequence 374262 from Patent EP1572962. JD556198 - Sequence 537222 from Patent EP1572962. JD166191 - Sequence 147215 from Patent EP1572962. JD534567 - Sequence 515591 from Patent EP1572962. JD394019 - Sequence 375043 from Patent EP1572962. JD090574 - Sequence 71598 from Patent EP1572962. JD498872 - Sequence 479896 from Patent EP1572962. JD539758 - Sequence 520782 from Patent EP1572962. JD438682 - Sequence 419706 from Patent EP1572962. JD311112 - Sequence 292136 from Patent EP1572962. JD202606 - Sequence 183630 from Patent EP1572962. JD426429 - Sequence 407453 from Patent EP1572962. JD445573 - Sequence 426597 from Patent EP1572962. JD206415 - Sequence 187439 from Patent EP1572962. JD215639 - Sequence 196663 from Patent EP1572962. JD309725 - Sequence 290749 from Patent EP1572962. JD219099 - Sequence 200123 from Patent EP1572962. JD422690 - Sequence 403714 from Patent EP1572962. JD123086 - Sequence 104110 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P08034 (Reactome details) participates in the following event(s):
R-HSA-190687 Connexin oligomerization in ER-Golgi-Intermediate Compartment R-HSA-190681 Connexin oligomerization in endoplasmic reticulum membrane R-HSA-190698 Transport of connexins to the ER-Golgi intermediate compartment R-HSA-190704 Oligomerization of connexins into connexons R-HSA-190861 Gap junction assembly R-HSA-190827 Transport of connexins along the secretory pathway R-HSA-190828 Gap junction trafficking R-HSA-157858 Gap junction trafficking and regulation R-HSA-199991 Membrane Trafficking R-HSA-5653656 Vesicle-mediated transport
GeneReviews article(s) related to gene GJB1: cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview) cmtx (GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_000166.5
exon count:
2
CDS single in 3' UTR:
no
RNA size:
1674
ORF size:
852
CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
972.00
frame shift in genome:
no
% Coverage:
98.81
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0
# strange splices:
0
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.
US Server
