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Q9NTQ9 (CXB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction beta-4 protein
Alternative name(s):
Connexin-30.3
Short name=Cx30.3
Gene names
Name:GJB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length266 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

A connexon is composed of a hexamer of connexins.

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction.

Involvement in disease

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. Ref.5

Sequence similarities

Belongs to the connexin family. Beta-type (group I) subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 266266Gap junction beta-4 protein
PRO_0000057865

Regions

Topological domain1 – 2020Cytoplasmic Potential
Transmembrane21 – 4020Helical; Potential
Topological domain41 – 7535Extracellular Potential
Transmembrane76 – 9823Helical; Potential
Topological domain99 – 12628Cytoplasmic Potential
Transmembrane127 – 14923Helical; Potential
Topological domain150 – 18738Extracellular Potential
Transmembrane188 – 21023Helical; Potential
Topological domain211 – 26656Cytoplasmic Potential

Natural variations

Natural variant1031R → C May be associated with deafness. Ref.6
Corresponds to variant rs9426009 [ dbSNP | Ensembl ].
VAR_015088
Natural variant1241R → Q May be associated with deafness. Ref.6
Corresponds to variant rs140996335 [ dbSNP | Ensembl ].
VAR_015089
Natural variant1371F → L in EKV; associated with erythema gyratum repens in some individuals. Ref.5
VAR_010206
Natural variant1601R → C May be associated with deafness. Ref.6
VAR_015090
Natural variant1691C → W May be associated with deafness. Ref.6
Corresponds to variant rs79193415 [ dbSNP | Ensembl ].
VAR_015091
Natural variant2041E → A May be associated with deafness. Ref.6
Corresponds to variant rs3738346 [ dbSNP | Ensembl ].
VAR_015092

Sequences

Sequence LengthMass (Da)Tools
Q9NTQ9 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: F136B3706AA14648

FASTA26630,419
        10         20         30         40         50         60 
MNWAFLQGLL SGVNKYSTVL SRIWLSVVFI FRVLVYVVAA EEVWDDEQKD FVCNTKQPGC 

        70         80         90        100        110        120 
PNVCYDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREE RERKHHLKHG PNAPSLYDNL 

       130        140        150        160        170        180 
SKKRGGLWWT YLLSLIFKAA VDAGFLYIFH RLYKDYDMPR VVACSVEPCP HTVDCYISRP 

       190        200        210        220        230        240 
TEKKVFTYFM VTTAAICILL NLSEVFYLVG KRCMEIFGPR HRRPRCRECL PDTCPPYVLS 

       250        260 
QGGHPEDGNS VLMKAGSAPV DAGGYP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057628 mRNA. Translation: BAG51944.1.
AL121988 Genomic DNA. Translation: CAB90270.1.
CH471059 Genomic DNA. Translation: EAX07443.1.
BC034709 mRNA. Translation: AAH34709.1.
CCDSCCDS383.1.
RefSeqNP_694944.1. NM_153212.2.
UniGeneHs.351203.

3D structure databases

ProteinModelPortalQ9NTQ9.
SMRQ9NTQ9. Positions 2-209.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000345868.

Chemistry

GuidetoPHARMACOLOGY719.

Polymorphism databases

DMDM12229761.

Proteomic databases

PaxDbQ9NTQ9.
PRIDEQ9NTQ9.

Protocols and materials databases

DNASU127534.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339480; ENSP00000345868; ENSG00000189433.
GeneID127534.
KEGGhsa:127534.
UCSCuc001bxv.1. human.

Organism-specific databases

CTD127534.
GeneCardsGC01P035225.
HGNCHGNC:4286. GJB4.
MIM133200. phenotype.
605425. gene.
neXtProtNX_Q9NTQ9.
Orphanet317. Erythrokeratodermia variabilis.
PharmGKBPA28697.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39157.
HOGENOMHOG000231127.
HOVERGENHBG009576.
InParanoidQ9NTQ9.
KOK07623.
OMAWDDEQKD.
OrthoDBEOG7P2XSS.
PhylomeDBQ9NTQ9.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

BgeeQ9NTQ9.
CleanExHS_GJB4.
GenevestigatorQ9NTQ9.

Family and domain databases

InterProIPR000500. Connexin.
IPR002271. Connexin303.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF30. PTHR11984:SF30. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
PR01142. CONNEXINB5.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJB4.
GenomeRNAi127534.
NextBio82105.
PROQ9NTQ9.
SOURCESearch...

Entry information

Entry nameCXB4_HUMAN
AccessionPrimary (citable) accession number: Q9NTQ9
Secondary accession number(s): B3KQ82
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM