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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]
GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease. Among its related pathways are Transport of connexins along the secretory pathway and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB6.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ071213 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE dbSUPER | 250.7 | +3.1 | 3105 | 4.2 | MXD4 CEBPA ZFP64 HOMEZ FOXA2 SMAD4 SAP130 RXRA MIER3 KMT2B | GJB1 NONO TAF1 OGT MED12 P2RY4 ENSG00000229601 PABPN1P1 ARR3 RHOG2P | |
GH0XJ071223 | Promoter | 0.4 | EPDnew | 250.4 | +10.4 | 10394 | 0.1 | RBFOX2 | RF00484 GJB1 ZMYM3 RF00017-8507 NONO | |
GH0XJ071227 | Enhancer | 1 | ENCODE dbSUPER | 11 | +15.2 | 15165 | 1.8 | CEBPA KDM6A FOXA2 SMAD4 SAP130 RXRA ZSCAN9 ETV4 RARA ZBTB33 | RF00017-8508 ZMYM3 GJB1 SNX12 RTL5 RF00484 RF00017-8507 NONO | |
GH0XJ071224 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 8.2 | +12.8 | 12790 | 2.8 | CEBPA SMAD4 SAP130 MIER3 RARA BCL6 HMG20A NR2F6 ELF3 RXRB | ZMYM3 GJB1 NONO RF00484 RF00017-8508 RF00017-8507 | |
GH0XJ071191 | Enhancer | 0.5 | FANTOM5 Ensembl | 5.5 | -21.3 | -21310 | 1.8 | ZBTB40 NANOG | GJB1 TEX11 ENSG00000228427 LOC107985688 lnc-NLGN3-2 NLGN3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005243 | gap junction channel activity | TAS | -- |
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005921 | gap junction | IEA | -- |
GO:0005922 | connexin complex | TAS,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gap junction trafficking | ||
2 | Vesicle-mediated transport | ||
3 | Transport of connexins along the secretory pathway | ||
4 | G-Beta Gamma Signaling |
Signaling in Gap Junctions
.30
|
|
5 | Development Slit-Robo signaling |
Cell adhesion Gap junctions
.30
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007154 | cell communication | IEA | -- |
GO:0007267 | cell-cell signaling | TAS,IBA | 21873635 |
GO:0007399 | nervous system development | TAS | 8266101 |
GO:0015868 | purine ribonucleotide transport | IEA | -- |
GO:0016264 | gap junction assembly | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Flufenamic acid | Approved | Pharma | Inhibitor | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
octanol | Investigational | Pharma | Inhibitor | 0 | ||
Ca<sup>2+</sup> | Pharma | Inhibitor | 0 | |||
Gap19 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
10Panx | Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 955091-53-9 |
Carbenoxolone disodium | Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase | 7421-40-1 |
Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | 197250-15-0 |
Gap 27 | Selective gap junction blocker | 198284-64-9 |
Scrambled 10Panx | Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide | 1315378-72-3 |
Compound | Action | Cas Number |
---|---|---|
Gap19 | 1507930-57-5 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | - | - | ||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GJB1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gjb1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | GJB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gjb1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GJB1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GJB1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GJB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gjb1 30 |
|
||
Str.6225 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | gjb1-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cx27.5 30 31 |
|
OneToMany | |
cx31.7 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
837766 | Uncertain Significance: Charcot-Marie-Tooth Neuropathy X | 71,224,342(+) |
T/G NM_000166.6(GJB1):c.635T>G (p.Leu212Arg) |
MISSENSE | |
838209 | Pathogenic: Charcot-Marie-Tooth Neuropathy X | 71,224,211(+) |
C/A NM_000166.6(GJB1):c.504C>A (p.Cys168Ter) |
NONSENSE | |
840624 | Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X | 71,224,208(+) |
G/T NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) |
MISSENSE | |
841323 | Pathogenic: Charcot-Marie-Tooth Neuropathy X | 71,223,906(+) |
C/T NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) |
NONSENSE | |
843172 | Uncertain Significance: Charcot-Marie-Tooth Neuropathy X | 71,224,047(+) |
C/A NM_000166.6(GJB1):c.340C>A (p.Pro114Thr) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1584074 | OTHER | inversion | 17803354 |
esv33082 | CNV | loss | 17666407 |
esv3576924 | CNV | gain | 25503493 |
nsv508781 | CNV | insertion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, x-linked dominant, 1 |
|
|
charcot-marie-tooth disease |
|
|
hypertrophic neuropathy of dejerine-sottas |
|
|
spinocerebellar ataxia, x-linked 1 |
|
|
x-linked charcot-marie-tooth disease |
|
|