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Protein

Gap junction beta-3 protein

Gene

GJB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBi1.A.24.1.10 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-3 protein
Alternative name(s):
Connexin-31
Short name:
Cx31
Gene namesi
Name:GJB3
Synonyms:CX31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000188910.7
HGNCiHGNC:4285 GJB3
MIMi603324 gene+phenotype
neXtProtiNX_O75712

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 40HelicalSequence analysisAdd BLAST20
Topological domaini41 – 75ExtracellularSequence analysisAdd BLAST35
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 126CytoplasmicSequence analysisAdd BLAST28
Transmembranei127 – 149HelicalSequence analysisAdd BLAST23
Topological domaini150 – 187ExtracellularSequence analysisAdd BLAST38
Transmembranei188 – 210HelicalSequence analysisAdd BLAST23
Topological domaini211 – 270CytoplasmicSequence analysisAdd BLAST60

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Erythrokeratodermia variabilis et progressiva 1 (EKVP1)3 Publications
The disease is caused by mutations 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.
See also OMIM:133200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00214712G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar.1
Natural variantiVAR_00214812G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar.1
Natural variantiVAR_01508542R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar.1
Natural variantiVAR_00214986C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar.1
Natural variantiVAR_015086137F → L in EKVP1. 1 Publication1
Deafness, autosomal dominant, 2B (DFNA2B)1 Publication
The disease is caused by mutations 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.
See also OMIM:612644
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015087141I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.1
Natural variantiVAR_002150183E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi2707
GeneReviewsiGJB3
MalaCardsiGJB3
MIMi133200 phenotype
603324 gene+phenotype
612644 phenotype
OpenTargetsiENSG00000188910
Orphaneti90635 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
PharmGKBiPA28696

Polymorphism and mutation databases

BioMutaiGJB3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578621 – 270Gap junction beta-3 proteinAdd BLAST270

Proteomic databases

EPDiO75712
MaxQBiO75712
PaxDbiO75712
PeptideAtlasiO75712
PRIDEiO75712
ProteomicsDBi50170

PTM databases

iPTMnetiO75712
PhosphoSitePlusiO75712

Expressioni

Gene expression databases

BgeeiENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg
CleanExiHS_GJB3
GenevisibleiO75712 HS

Organism-specific databases

HPAiHPA074472

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108973, 7 interactors
CORUMiO75712
IntActiO75712, 5 interactors
STRINGi9606.ENSP00000362460

Structurei

3D structure databases

ProteinModelPortaliO75712
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE21 Eukaryota
ENOG410Y9C2 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiO75712
KOiK07622
OMAiHTLWHGF
OrthoDBiEOG091G0FKH
PhylomeDBiO75712
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002269 Connexin31
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF65 PTHR11984:SF65, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01140 CONNEXINB3
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

O75712-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:270
Mass (Da):30,818
Last modified:November 1, 1998 - v1
Checksum:iE46D36E5835646A4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00214712G → D in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315316EnsemblClinVar.1
Natural variantiVAR_00214812G → R in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315315EnsemblClinVar.1
Natural variantiVAR_01197832R → W4 PublicationsCorresponds to variant dbSNP:rs1805063EnsemblClinVar.1
Natural variantiVAR_01508542R → P in EKVP1. 2 PublicationsCorresponds to variant dbSNP:rs74315321EnsemblClinVar.1
Natural variantiVAR_00214986C → S in EKVP1. 1 PublicationCorresponds to variant dbSNP:rs74315317EnsemblClinVar.1
Natural variantiVAR_015086137F → L in EKVP1. 1 Publication1
Natural variantiVAR_015087141I → V in DFNA2B. Corresponds to variant dbSNP:rs74315320EnsemblClinVar.1
Natural variantiVAR_002150183E → K in DFNA2B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74315318EnsemblClinVar.1
Natural variantiVAR_022423200V → 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
CCDSiCCDS384.1
PIRiJE0274
RefSeqiNP_001005752.1, NM_001005752.1
NP_076872.1, NM_024009.2
UniGeneiHs.522561

Genome annotation databases

EnsembliENST00000373362; ENSP00000362460; ENSG00000188910
ENST00000373366; ENSP00000362464; ENSG00000188910
GeneIDi2707
KEGGihsa:2707
UCSCiuc001bxx.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS384.1
PIRiJE0274
RefSeqiNP_001005752.1, NM_001005752.1
NP_076872.1, NM_024009.2
UniGeneiHs.522561

3D structure databases

ProteinModelPortaliO75712
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108973, 7 interactors
CORUMiO75712
IntActiO75712, 5 interactors
STRINGi9606.ENSP00000362460

Protein family/group databases

TCDBi1.A.24.1.10 the gap junction-forming connexin (connexin) family

PTM databases

iPTMnetiO75712
PhosphoSitePlusiO75712

Polymorphism and mutation databases

BioMutaiGJB3

Proteomic databases

EPDiO75712
MaxQBiO75712
PaxDbiO75712
PeptideAtlasiO75712
PRIDEiO75712
ProteomicsDBi50170

Protocols and materials databases

DNASUi2707
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373362; ENSP00000362460; ENSG00000188910
ENST00000373366; ENSP00000362464; ENSG00000188910
GeneIDi2707
KEGGihsa:2707
UCSCiuc001bxx.4 human

Organism-specific databases

CTDi2707
DisGeNETi2707
EuPathDBiHostDB:ENSG00000188910.7
GeneCardsiGJB3
GeneReviewsiGJB3
H-InvDBiHIX0000402
HGNCiHGNC:4285 GJB3
HPAiHPA074472
MalaCardsiGJB3
MIMi133200 phenotype
603324 gene+phenotype
612644 phenotype
neXtProtiNX_O75712
OpenTargetsiENSG00000188910
Orphaneti90635 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
PharmGKBiPA28696
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE21 Eukaryota
ENOG410Y9C2 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiO75712
KOiK07622
OMAiHTLWHGF
OrthoDBiEOG091G0FKH
PhylomeDBiO75712
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

ChiTaRSiGJB3 human
GeneWikiiGJB3
GenomeRNAii2707
PROiPR:O75712
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188910 Expressed in 140 organ(s), highest expression level in skin of leg
CleanExiHS_GJB3
GenevisibleiO75712 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002269 Connexin31
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF65 PTHR11984:SF65, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01140 CONNEXINB3
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXB3_HUMAN
AccessioniPrimary (citable) accession number: O75712
Secondary accession number(s): B2R790, Q2TAZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: September 12, 2018
This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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