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Q9NTQ9

- CXB4_HUMAN

UniProt

Q9NTQ9 - CXB4_HUMAN

Protein

Gap junction beta-4 protein

Gene

GJB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. connexon complex Source: InterPro
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Gap junction, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Erythrokeratodermia variabilis (EKV) [MIM:133200]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    STRINGi9606.ENSP00000345868.

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini41 – 7535ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini99 – 12628CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini150 – 18738ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini211 – 26656CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4020HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei127 – 14923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei188 – 21023HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39157.
    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

    MNWAFLQGLL SGVNKYSTVL SRIWLSVVFI FRVLVYVVAA EEVWDDEQKD    50
    FVCNTKQPGC PNVCYDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREE 100
    RERKHHLKHG PNAPSLYDNL SKKRGGLWWT YLLSLIFKAA VDAGFLYIFH 150
    RLYKDYDMPR VVACSVEPCP HTVDCYISRP TEKKVFTYFM VTTAAICILL 200
    NLSEVFYLVG KRCMEIFGPR HRRPRCRECL PDTCPPYVLS QGGHPEDGNS 250
    VLMKAGSAPV DAGGYP 266
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057628 mRNA. Translation: BAG51944.1 .
    AL121988 Genomic DNA. Translation: CAB90270.1 .
    CH471059 Genomic DNA. Translation: EAX07443.1 .
    BC034709 mRNA. Translation: AAH34709.1 .
    CCDSi CCDS383.1.
    RefSeqi NP_694944.1. NM_153212.2.
    UniGenei Hs.351203.

    3D structure databases

    ProteinModelPortali Q9NTQ9.
    SMRi Q9NTQ9. Positions 2-209.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000345868.

    Chemistry

    GuidetoPHARMACOLOGYi 719.

    Polymorphism databases

    DMDMi 12229761.

    Proteomic databases

    PaxDbi Q9NTQ9.
    PRIDEi Q9NTQ9.

    Protocols and materials databases

    DNASUi 127534.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339480 ; ENSP00000345868 ; ENSG00000189433 .
    GeneIDi 127534.
    KEGGi hsa:127534.
    UCSCi uc001bxv.1. human.

    Organism-specific databases

    CTDi 127534.
    GeneCardsi GC01P035225.
    HGNCi HGNC:4286. GJB4.
    MIMi 133200. phenotype.
    605425. gene.
    neXtProti NX_Q9NTQ9.
    Orphaneti 317. Erythrokeratodermia variabilis.
    PharmGKBi PA28697.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39157.
    HOGENOMi HOG000231127.
    HOVERGENi HBG009576.
    InParanoidi Q9NTQ9.
    KOi K07623.
    OMAi WDDEQKD.
    OrthoDBi EOG7P2XSS.
    PhylomeDBi Q9NTQ9.
    TreeFami TF329606.

    Enzyme and pathway databases

    Reactomei REACT_9509. Gap junction assembly.

    Miscellaneous databases

    GeneWikii GJB4.
    GenomeRNAii 127534.
    NextBioi 82105.
    PROi Q9NTQ9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NTQ9.
    CleanExi HS_GJB4.
    Genevestigatori Q9NTQ9.

    Family and domain databases

    InterProi IPR000500. Connexin.
    IPR002271. Connexin303.
    IPR019570. Connexin_CCC.
    IPR017990. Connexin_CS.
    IPR013092. Connexin_N.
    [Graphical view ]
    PANTHERi PTHR11984. PTHR11984. 1 hit.
    PTHR11984:SF30. PTHR11984:SF30. 1 hit.
    Pfami PF00029. Connexin. 1 hit.
    PF10582. Connexin_CCC. 1 hit.
    [Graphical view ]
    PRINTSi PR00206. CONNEXIN.
    PR01142. CONNEXINB5.
    SMARTi SM00037. CNX. 1 hit.
    SM01089. Connexin_CCC. 1 hit.
    [Graphical view ]
    PROSITEi PS00407. CONNEXINS_1. 1 hit.
    PS00408. CONNEXINS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 122 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