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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

  1. cell communication Source: InterPro
  2. olfactory behavior Source: Ensembl
  3. sensory perception of smell Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. 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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4286. GJB4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei21 – 4020HelicalSequence AnalysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Topological domaini99 – 12628CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei127 – 14923HelicalSequence AnalysisAdd
BLAST
Topological domaini150 – 18738ExtracellularSequence AnalysisAdd
BLAST
Transmembranei188 – 21023HelicalSequence AnalysisAdd
BLAST
Topological domaini211 – 26656CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. 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 variabilis1 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371F → L in EKV; associated with erythema gyratum repens in some individuals. 1 Publication
VAR_010206

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi133200. phenotype.
Orphaneti317. Erythrokeratodermia variabilis.
PharmGKBiPA28697.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 266266Gap junction beta-4 proteinPRO_0000057865Add
BLAST

Proteomic databases

PaxDbiQ9NTQ9.
PRIDEiQ9NTQ9.

Expressioni

Gene expression databases

BgeeiQ9NTQ9.
CleanExiHS_GJB4.
GenevestigatoriQ9NTQ9.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

BioGridi126063. 1 interaction.
STRINGi9606.ENSP00000345868.

Structurei

3D structure databases

ProteinModelPortaliQ9NTQ9.
SMRiQ9NTQ9. Positions 2-209.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39157.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9NTQ9.
KOiK07623.
OMAiWDDEQKD.
OrthoDBiEOG7P2XSS.
PhylomeDBiQ9NTQ9.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002271. Connexin303.
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.
PF10582. Connexin_CCC. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031R → C May be associated with deafness. 1 Publication
Corresponds to variant rs9426009 [ dbSNP | Ensembl ].
VAR_015088
Natural varianti124 – 1241R → Q May be associated with deafness. 1 Publication
Corresponds to variant rs140996335 [ dbSNP | Ensembl ].
VAR_015089
Natural varianti137 – 1371F → L in EKV; associated with erythema gyratum repens in some individuals. 1 Publication
VAR_010206
Natural varianti160 – 1601R → C May be associated with deafness. 1 Publication
VAR_015090
Natural varianti169 – 1691C → W May be associated with deafness. 1 Publication
Corresponds to variant rs79193415 [ dbSNP | Ensembl ].
VAR_015091
Natural varianti204 – 2041E → A May be associated with deafness. 1 Publication
Corresponds to variant rs3738346 [ dbSNP | Ensembl ].
VAR_015092

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.
UniGeneiHs.351203.

Genome annotation databases

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

Polymorphism databases

DMDMi12229761.

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.
UniGeneiHs.351203.

3D structure databases

ProteinModelPortaliQ9NTQ9.
SMRiQ9NTQ9. Positions 2-209.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126063. 1 interaction.
STRINGi9606.ENSP00000345868.

Chemistry

GuidetoPHARMACOLOGYi719.

Polymorphism databases

DMDMi12229761.

Proteomic databases

PaxDbiQ9NTQ9.
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.
GeneCardsiGC01P035225.
HGNCiHGNC:4286. GJB4.
MIMi133200. phenotype.
605425. gene.
neXtProtiNX_Q9NTQ9.
Orphaneti317. Erythrokeratodermia variabilis.
PharmGKBiPA28697.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39157.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9NTQ9.
KOiK07623.
OMAiWDDEQKD.
OrthoDBiEOG7P2XSS.
PhylomeDBiQ9NTQ9.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJB4.
GenomeRNAii127534.
NextBioi82105.
PROiQ9NTQ9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NTQ9.
CleanExiHS_GJB4.
GenevestigatoriQ9NTQ9.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002271. Connexin303.
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.
PF10582. Connexin_CCC. 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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Trachea.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  5. "Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis."
    Macari F., Landau M., Cousin P., Mevorah B., Brenner S., Panizzon R., Schorderet D.F., Hohl D., Huber M.
    Am. J. Hum. Genet. 67:1296-1301(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EKV LEU-137.
  6. "A common frameshift mutation and other variants in GJB4 (connexin 30.3): analysis of hearing impairment families."
    Lopez-Bigas N., Melchionda S., Gasparini P., Borragan A., Arbones M.L., Estivill X.
    Hum. Mutat. 19:458-458(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CYS-103; GLN-124; CYS-160; TRP-169 AND ALA-204.

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: January 7, 2015
This is version 124 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

External Data

Dasty 3

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 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.