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Protein

Gap junction beta-3 protein

Gene

GJB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32642-MONOMER.
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

HGNCiHGNC:4285. GJB3.

Subcellular locationi

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

GO - Cellular componenti

  • connexin complex Source: InterPro
  • cytoplasm Source: Ensembl
  • gap junction Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Erythrokeratodermia variabilis (EKV)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches 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 EKV. 1 PublicationCorresponds to variant rs74315316dbSNPEnsembl.1
Natural variantiVAR_00214812G → R in EKV. 1 PublicationCorresponds to variant rs74315315dbSNPEnsembl.1
Natural variantiVAR_01508542R → P in EKV. 2 PublicationsCorresponds to variant rs74315321dbSNPEnsembl.1
Natural variantiVAR_00214986C → S in EKV. 1 PublicationCorresponds to variant rs74315317dbSNPEnsembl.1
Natural variantiVAR_015086137F → L in EKV. 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 rs74315320dbSNPEnsembl.1
Natural variantiVAR_002150183E → K in DFNA2B. 1 PublicationCorresponds to variant rs74315318dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi2707.
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

MaxQBiO75712.
PaxDbiO75712.
PeptideAtlasiO75712.
PRIDEiO75712.

PTM databases

iPTMnetiO75712.
PhosphoSitePlusiO75712.

Expressioni

Gene expression databases

BgeeiENSG00000188910.
CleanExiHS_GJB3.
GenevisibleiO75712. HS.

Organism-specific databases

HPAiCAB033241.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108973. 2 interactors.
IntActiO75712. 1 interactor.
STRINGi9606.ENSP00000362460.

Structurei

3D structure databases

ProteinModelPortaliO75712.
SMRiO75712.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00860000133694.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO75712.
KOiK07622.
OMAiHTLWHGF.
OrthoDBiEOG091G0FKH.
PhylomeDBiO75712.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002269. Connexin31.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF65. PTHR11984:SF65. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01140. CONNEXINB3.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

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 EKV. 1 PublicationCorresponds to variant rs74315316dbSNPEnsembl.1
Natural variantiVAR_00214812G → R in EKV. 1 PublicationCorresponds to variant rs74315315dbSNPEnsembl.1
Natural variantiVAR_01197832R → W.4 PublicationsCorresponds to variant rs1805063dbSNPEnsembl.1
Natural variantiVAR_01508542R → P in EKV. 2 PublicationsCorresponds to variant rs74315321dbSNPEnsembl.1
Natural variantiVAR_00214986C → S in EKV. 1 PublicationCorresponds to variant rs74315317dbSNPEnsembl.1
Natural variantiVAR_015086137F → L in EKV. 1 Publication1
Natural variantiVAR_015087141I → V in DFNA2B. Corresponds to variant rs74315320dbSNPEnsembl.1
Natural variantiVAR_002150183E → K in DFNA2B. 1 PublicationCorresponds to variant rs74315318dbSNPEnsembl.1
Natural variantiVAR_022423200V → I.2 PublicationsCorresponds to variant rs61734064dbSNPEnsembl.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. Translation: CAB90269.1.
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

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. Translation: CAB90269.1.
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.
SMRiO75712.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108973. 2 interactors.
IntActiO75712. 1 interactor.
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

MaxQBiO75712.
PaxDbiO75712.
PeptideAtlasiO75712.
PRIDEiO75712.

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.
GeneCardsiGJB3.
GeneReviewsiGJB3.
H-InvDBHIX0000402.
HGNCiHGNC:4285. GJB3.
HPAiCAB033241.
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.
GeneTreeiENSGT00860000133694.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO75712.
KOiK07622.
OMAiHTLWHGF.
OrthoDBiEOG091G0FKH.
PhylomeDBiO75712.
TreeFamiTF329606.

Enzyme and pathway databases

BioCyciZFISH:G66-32642-MONOMER.
ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

ChiTaRSiGJB3. human.
GeneWikiiGJB3.
GenomeRNAii2707.
PROiO75712.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188910.
CleanExiHS_GJB3.
GenevisibleiO75712. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002269. Connexin31.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF65. PTHR11984:SF65. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01140. CONNEXINB3.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCXB3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 159 of the entry and version 1 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.