UniProtKB - O75712 (CXB3_HUMAN)
Protein
Gap junction beta-3 protein
Gene
GJB3
Organism
Homo sapiens (Human)
Status
Functioni
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
GO - Molecular functioni
- gap junction channel activity Source: GO_Central
GO - Biological processi
- cell-cell signaling Source: GO_Central
- cellular response to retinoic acid Source: Ensembl
- in utero embryonic development Source: Ensembl
- placenta development Source: Ensembl
- skin development Source: Ensembl
- spermatogenesis Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | O75712 |
Reactomei | R-HSA-190861, Gap junction assembly |
Protein family/group databases
TCDBi | 1.A.24.1.10, the gap junction-forming connexin (connexin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction beta-3 proteinAlternative name(s): Connexin-31 Short name: Cx31 |
Gene namesi | Name:GJB3 Synonyms:CX31 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4285, GJB3 |
MIMi | 603324, gene+phenotype |
neXtProti | NX_O75712 |
VEuPathDBi | HostDB:ENSG00000188910.7 |
Subcellular locationi
Plasma membrane
Other locations
Plasma Membrane
- connexin complex Source: GO_Central
Other locations
- cell junction Source: HPA
- cytoplasm Source: Ensembl
- gap junction Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 20 | CytoplasmicSequence analysisAdd BLAST | 20 | |
Transmembranei | 21 – 40 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 41 – 75 | ExtracellularSequence analysisAdd BLAST | 35 | |
Transmembranei | 76 – 98 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 99 – 126 | CytoplasmicSequence analysisAdd BLAST | 28 | |
Transmembranei | 127 – 149 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 150 – 187 | ExtracellularSequence analysisAdd BLAST | 38 | |
Transmembranei | 188 – 210 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 211 – 270 | CytoplasmicSequence analysisAdd BLAST | 60 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Erythrokeratodermia variabilis et progressiva 1 (EKVP1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002147 | 12 | G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar. | 1 | |
Natural variantiVAR_002148 | 12 | G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar. | 1 | |
Natural variantiVAR_015085 | 42 | R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar. | 1 | |
Natural variantiVAR_002149 | 86 | C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar. | 1 | |
Natural variantiVAR_015086 | 137 | F → L in EKVP1. 1 Publication | 1 |
Deafness, autosomal dominant, 2B (DFNA2B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015087 | 141 | I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar. | 1 | |
Natural variantiVAR_002150 | 183 | E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafness, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 2707 |
GeneReviewsi | GJB3 |
MalaCardsi | GJB3 |
MIMi | 133200, phenotype 603324, gene+phenotype 612644, phenotype |
OpenTargetsi | ENSG00000188910 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 317, Erythrokeratodermia variabilis 139512, Neuropathy with hearing impairment |
PharmGKBi | PA28696 |
Miscellaneous databases
Pharosi | O75712, Tbio |
Genetic variation databases
BioMutai | GJB3 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000057862 | 1 – 270 | Gap junction beta-3 proteinAdd BLAST | 270 |
Proteomic databases
EPDi | O75712 |
jPOSTi | O75712 |
MassIVEi | O75712 |
MaxQBi | O75712 |
PaxDbi | O75712 |
PeptideAtlasi | O75712 |
PRIDEi | O75712 |
ProteomicsDBi | 50170 |
PTM databases
iPTMneti | O75712 |
PhosphoSitePlusi | O75712 |
Expressioni
Gene expression databases
Bgeei | ENSG00000188910, Expressed in skin of leg and 158 other tissues |
Genevisiblei | O75712, HS |
Organism-specific databases
HPAi | ENSG00000188910, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins.
Interacts with CNST (By similarity).
By similarityBinary interactionsi
Hide detailsO75712
Protein-protein interaction databases
BioGRIDi | 108973, 19 interactors |
CORUMi | O75712 |
IntActi | O75712, 13 interactors |
STRINGi | 9606.ENSP00000362464 |
Miscellaneous databases
RNActi | O75712, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QRC0, Eukaryota |
GeneTreei | ENSGT00990000203557 |
HOGENOMi | CLU_037388_4_1_1 |
InParanoidi | O75712 |
OMAi | CIVLTVC |
OrthoDBi | 902090at2759 |
PhylomeDBi | O75712 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002269, Connexin31 IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF65, PTHR11984:SF65, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01140, CONNEXINB3 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
i Sequence
Sequence statusi: Complete.
O75712-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD
60 70 80 90 100
FDCNTKQPGC TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE
110 120 130 140 150
RERRHRQKHG DQCAKLYDNA GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH
160 170 180 190 200
TLWHGFNMPR LVQCANVAPC PNIVDCYIAR PTEKKIFTYF MVGASAVCIV
210 220 230 240 250
LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR CHHKLVEAGE
260 270
VDPDPGNNKL QASAPNLTPI
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002147 | 12 | G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar. | 1 | |
Natural variantiVAR_002148 | 12 | G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar. | 1 | |
Natural variantiVAR_011978 | 32 | R → W4 PublicationsCorresponds to variant dbSNP:rs1805063EnsemblClinVar. | 1 | |
Natural variantiVAR_015085 | 42 | R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar. | 1 | |
Natural variantiVAR_002149 | 86 | C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar. | 1 | |
Natural variantiVAR_015086 | 137 | F → L in EKVP1. 1 Publication | 1 | |
Natural variantiVAR_015087 | 141 | I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar. | 1 | |
Natural variantiVAR_002150 | 183 | E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar. | 1 | |
Natural variantiVAR_022423 | 200 | V → I2 PublicationsCorresponds to variant dbSNP:rs61734064EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ004856 Genomic DNA Translation: CAA06165.1 AF052692 mRNA Translation: AAD11816.1 AF099730 Genomic DNA Translation: AAC95471.1 AK312890 mRNA Translation: BAG35737.1 AL121988 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07442.1 BC012918 mRNA Translation: AAH12918.1 BC110640 mRNA Translation: AAI10641.1 |
CCDSi | CCDS384.1 |
PIRi | JE0274 |
RefSeqi | NP_001005752.1, NM_001005752.1 NP_076872.1, NM_024009.2 |
Genome annotation databases
Ensembli | ENST00000373362; ENSP00000362460; ENSG00000188910 ENST00000373366; ENSP00000362464; ENSG00000188910 |
GeneIDi | 2707 |
KEGGi | hsa:2707 |
UCSCi | uc001bxx.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Connexin-deafness homepage |
Hereditary hearing loss homepage Gene page |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ004856 Genomic DNA Translation: CAA06165.1 AF052692 mRNA Translation: AAD11816.1 AF099730 Genomic DNA Translation: AAC95471.1 AK312890 mRNA Translation: BAG35737.1 AL121988 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07442.1 BC012918 mRNA Translation: AAH12918.1 BC110640 mRNA Translation: AAI10641.1 |
CCDSi | CCDS384.1 |
PIRi | JE0274 |
RefSeqi | NP_001005752.1, NM_001005752.1 NP_076872.1, NM_024009.2 |
3D structure databases
SMRi | O75712 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108973, 19 interactors |
CORUMi | O75712 |
IntActi | O75712, 13 interactors |
STRINGi | 9606.ENSP00000362464 |
Protein family/group databases
TCDBi | 1.A.24.1.10, the gap junction-forming connexin (connexin) family |
PTM databases
iPTMneti | O75712 |
PhosphoSitePlusi | O75712 |
Genetic variation databases
BioMutai | GJB3 |
Proteomic databases
EPDi | O75712 |
jPOSTi | O75712 |
MassIVEi | O75712 |
MaxQBi | O75712 |
PaxDbi | O75712 |
PeptideAtlasi | O75712 |
PRIDEi | O75712 |
ProteomicsDBi | 50170 |
Protocols and materials databases
Antibodypediai | 31497, 298 antibodies |
DNASUi | 2707 |
Genome annotation databases
Ensembli | ENST00000373362; ENSP00000362460; ENSG00000188910 ENST00000373366; ENSP00000362464; ENSG00000188910 |
GeneIDi | 2707 |
KEGGi | hsa:2707 |
UCSCi | uc001bxx.4, human |
Organism-specific databases
CTDi | 2707 |
DisGeNETi | 2707 |
GeneCardsi | GJB3 |
GeneReviewsi | GJB3 |
HGNCi | HGNC:4285, GJB3 |
HPAi | ENSG00000188910, Tissue enhanced (esophagus, lymphoid tissue, skin, tongue) |
MalaCardsi | GJB3 |
MIMi | 133200, phenotype 603324, gene+phenotype 612644, phenotype |
neXtProti | NX_O75712 |
OpenTargetsi | ENSG00000188910 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 317, Erythrokeratodermia variabilis 139512, Neuropathy with hearing impairment |
PharmGKBi | PA28696 |
VEuPathDBi | HostDB:ENSG00000188910.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRC0, Eukaryota |
GeneTreei | ENSGT00990000203557 |
HOGENOMi | CLU_037388_4_1_1 |
InParanoidi | O75712 |
OMAi | CIVLTVC |
OrthoDBi | 902090at2759 |
PhylomeDBi | O75712 |
TreeFami | TF329606 |
Enzyme and pathway databases
PathwayCommonsi | O75712 |
Reactomei | R-HSA-190861, Gap junction assembly |
Miscellaneous databases
BioGRID-ORCSi | 2707, 11 hits in 866 CRISPR screens |
GeneWikii | GJB3 |
GenomeRNAii | 2707 |
Pharosi | O75712, Tbio |
PROi | PR:O75712 |
RNActi | O75712, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000188910, Expressed in skin of leg and 158 other tissues |
Genevisiblei | O75712, HS |
Family and domain databases
Gene3Di | 1.20.1440.80, 1 hit |
InterProi | View protein in InterPro IPR000500, Connexin IPR002269, Connexin31 IPR019570, Connexin_CCC IPR017990, Connexin_CS IPR013092, Connexin_N IPR038359, Connexin_N_sf |
PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF65, PTHR11984:SF65, 1 hit |
Pfami | View protein in Pfam PF00029, Connexin, 1 hit |
PRINTSi | PR00206, CONNEXIN PR01140, CONNEXINB3 |
SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CXB3_HUMAN | |
Accessioni | O75712Primary (citable) accession number: O75712 Secondary accession number(s): B2R790, Q2TAZ8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | November 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families