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Q9NTQ9

- CXB4_HUMAN

UniProt

Q9NTQ9 - CXB4_HUMAN

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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

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 – 2020Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei21 – 4020Helical; Reviewed prediction
Add
BLAST
Topological domaini41 – 7535Extracellular Reviewed prediction
Add
BLAST
Transmembranei76 – 9823Helical; Reviewed prediction
Add
BLAST
Topological domaini99 – 12628Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei127 – 14923Helical; Reviewed prediction
Add
BLAST
Topological domaini150 – 18738Extracellular Reviewed prediction
Add
BLAST
Transmembranei188 – 21023Helical; Reviewed prediction
Add
BLAST
Topological domaini211 – 26656Cytoplasmic Reviewed prediction
Add
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 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 protein
PRO_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.

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

« 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: September 3, 2014
This is version 121 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

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