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Protein

Gap junction beta-4 protein

Gene

GJB4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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 - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33426-MONOMER.
ReactomeiR-HSA-190861. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-4 protein
Alternative name(s):
Connexin-30.3
Short name:
Cx30.3
Gene namesi
Name:GJB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4286. GJB4.

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 – 266CytoplasmicSequence analysisAdd BLAST56

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Erythrokeratodermia variabilis (EKV)1 Publication
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_010206137F → L in EKV; associated with erythema gyratum repens in some individuals. 1 PublicationCorresponds to variant rs80358206dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi127534.
MalaCardsiGJB4.
MIMi133200. phenotype.
OpenTargetsiENSG00000189433.
Orphaneti317. Erythrokeratodermia variabilis.
PharmGKBiPA28697.

Polymorphism and mutation databases

BioMutaiGJB4.
DMDMi12229761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578651 – 266Gap junction beta-4 proteinAdd BLAST266

Proteomic databases

PaxDbiQ9NTQ9.
PeptideAtlasiQ9NTQ9.
PRIDEiQ9NTQ9.

PTM databases

iPTMnetiQ9NTQ9.
PhosphoSitePlusiQ9NTQ9.

Expressioni

Gene expression databases

BgeeiENSG00000189433.
CleanExiHS_GJB4.
GenevisibleiQ9NTQ9. HS.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

BioGridi126063. 1 interactor.
STRINGi9606.ENSP00000345868.

Structurei

3D structure databases

ProteinModelPortaliQ9NTQ9.
SMRiQ9NTQ9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00860000133694.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9NTQ9.
KOiK07623.
OMAiWDDEQKD.
OrthoDBiEOG091G0FKH.
PhylomeDBiQ9NTQ9.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002270. Connexin311.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF30. PTHR11984:SF30. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01142. CONNEXINB5.
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.

Q9NTQ9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNWAFLQGLL SGVNKYSTVL SRIWLSVVFI FRVLVYVVAA EEVWDDEQKD
60 70 80 90 100
FVCNTKQPGC PNVCYDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREE
110 120 130 140 150
RERKHHLKHG PNAPSLYDNL SKKRGGLWWT YLLSLIFKAA VDAGFLYIFH
160 170 180 190 200
RLYKDYDMPR VVACSVEPCP HTVDCYISRP TEKKVFTYFM VTTAAICILL
210 220 230 240 250
NLSEVFYLVG KRCMEIFGPR HRRPRCRECL PDTCPPYVLS QGGHPEDGNS
260
VLMKAGSAPV DAGGYP
Length:266
Mass (Da):30,419
Last modified:October 1, 2000 - v1
Checksum:iF136B3706AA14648
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015088103R → C May be associated with deafness. 1 PublicationCorresponds to variant rs9426009dbSNPEnsembl.1
Natural variantiVAR_015089124R → Q May be associated with deafness. 1 PublicationCorresponds to variant rs140996335dbSNPEnsembl.1
Natural variantiVAR_010206137F → L in EKV; associated with erythema gyratum repens in some individuals. 1 PublicationCorresponds to variant rs80358206dbSNPEnsembl.1
Natural variantiVAR_015090160R → C May be associated with deafness. 1 PublicationCorresponds to variant rs148710003dbSNPEnsembl.1
Natural variantiVAR_015091169C → W May be associated with deafness. 1 PublicationCorresponds to variant rs79193415dbSNPEnsembl.1
Natural variantiVAR_015092204E → A May be associated with deafness. 1 PublicationCorresponds to variant rs3738346dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057628 mRNA. Translation: BAG51944.1.
AL121988 Genomic DNA. Translation: CAB90270.1.
CH471059 Genomic DNA. Translation: EAX07443.1.
BC034709 mRNA. Translation: AAH34709.1.
CCDSiCCDS383.1.
RefSeqiNP_694944.1. NM_153212.2.
XP_011538981.1. XM_011540679.2.
UniGeneiHs.351203.

Genome annotation databases

EnsembliENST00000339480; ENSP00000345868; ENSG00000189433.
GeneIDi127534.
KEGGihsa:127534.
UCSCiuc001bxv.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057628 mRNA. Translation: BAG51944.1.
AL121988 Genomic DNA. Translation: CAB90270.1.
CH471059 Genomic DNA. Translation: EAX07443.1.
BC034709 mRNA. Translation: AAH34709.1.
CCDSiCCDS383.1.
RefSeqiNP_694944.1. NM_153212.2.
XP_011538981.1. XM_011540679.2.
UniGeneiHs.351203.

3D structure databases

ProteinModelPortaliQ9NTQ9.
SMRiQ9NTQ9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126063. 1 interactor.
STRINGi9606.ENSP00000345868.

PTM databases

iPTMnetiQ9NTQ9.
PhosphoSitePlusiQ9NTQ9.

Polymorphism and mutation databases

BioMutaiGJB4.
DMDMi12229761.

Proteomic databases

PaxDbiQ9NTQ9.
PeptideAtlasiQ9NTQ9.
PRIDEiQ9NTQ9.

Protocols and materials databases

DNASUi127534.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339480; ENSP00000345868; ENSG00000189433.
GeneIDi127534.
KEGGihsa:127534.
UCSCiuc001bxv.1. human.

Organism-specific databases

CTDi127534.
DisGeNETi127534.
GeneCardsiGJB4.
HGNCiHGNC:4286. GJB4.
MalaCardsiGJB4.
MIMi133200. phenotype.
605425. gene.
neXtProtiNX_Q9NTQ9.
OpenTargetsiENSG00000189433.
Orphaneti317. Erythrokeratodermia variabilis.
PharmGKBiPA28697.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00860000133694.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9NTQ9.
KOiK07623.
OMAiWDDEQKD.
OrthoDBiEOG091G0FKH.
PhylomeDBiQ9NTQ9.
TreeFamiTF329606.

Enzyme and pathway databases

BioCyciZFISH:G66-33426-MONOMER.
ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJB4.
GenomeRNAii127534.
PROiQ9NTQ9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189433.
CleanExiHS_GJB4.
GenevisibleiQ9NTQ9. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002270. Connexin311.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF30. PTHR11984:SF30. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01142. CONNEXINB5.
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 nameiCXB4_HUMAN
AccessioniPrimary (citable) accession number: Q9NTQ9
Secondary accession number(s): B3KQ82
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 139 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.