Q9NTQ9 (CXB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gap junction beta-4 protein

Alternative name(s):
Connexin-30.3
Short name=Cx30.3

Gene names

Name:

GJB4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	266 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › gap 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.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Disease	Disease mutation Palmoplantar keratoderma
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Non-traceable author statement. Source: UniProtKB olfactory behavior Inferred from electronic annotation. Source: Compara sensory perception of smell Inferred from electronic annotation. Source: Compara
Cellular_component	connexon complex Inferred from electronic annotation. Source: InterPro gap junction Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	gap junction channel activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 266	266	Gap junction beta-4 protein		PRO_0000057865
Regions
	Topological domain	1 – 20	20	Cytoplasmic Potential
	Transmembrane	21 – 40	20	Helical; Potential
	Topological domain	41 – 75	35	Extracellular Potential
	Transmembrane	76 – 98	23	Helical; Potential
	Topological domain	99 – 126	28	Cytoplasmic Potential
	Transmembrane	127 – 149	23	Helical; Potential
	Topological domain	150 – 187	38	Extracellular Potential
	Transmembrane	188 – 210	23	Helical; Potential
	Topological domain	211 – 266	56	Cytoplasmic Potential
Natural variations
	Natural variant	103	1	R → C May be associated with deafness. Ref.6 Corresponds to variant rs9426009 [ dbSNP | Ensembl ].		VAR_015088
	Natural variant	124	1	R → Q May be associated with deafness. Ref.6		VAR_015089
	Natural variant	137	1	F → L in EKV; associated with erythema gyratum repens in some individuals. Ref.5		VAR_010206
	Natural variant	160	1	R → C May be associated with deafness. Ref.6		VAR_015090
	Natural variant	169	1	C → W May be associated with deafness. Ref.6		VAR_015091
	Natural variant	204	1	E → A May be associated with deafness. Ref.6 Corresponds to variant rs3738346 [ dbSNP | Ensembl ].		VAR_015092

Sequences

	Sequence		Length	Mass (Da)
	Q9NTQ9 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: F136B3706AA14648	FASTA	266	30,419
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.

Web resources

GeneReviews

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.
IPI	IPI00018323.
RefSeq	NP_694944.1. NM_153212.2.
UniGene	Hs.351203.
3D structure databases
ProteinModelPortal	Q9NTQ9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000345868.
Polymorphism databases
DMDM	12229761.
Proteomic databases
PaxDb	Q9NTQ9.
PRIDE	Q9NTQ9.
Protocols and materials databases
DNASU	127534.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000339480; ENSP00000345868; ENSG00000189433.
GeneID	127534.
KEGG	hsa:127534.
UCSC	uc001bxv.1. human.
Organism-specific databases
CTD	127534.
GeneCards	GC01P035225.
HGNC	HGNC:4286. GJB4.
MIM	133200. phenotype. 605425. gene.
neXtProt	NX_Q9NTQ9.
Orphanet	317. Erythrokeratodermia variabilis.
PharmGKB	PA28697.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39157.
HOGENOM	HOG000231127.
HOVERGEN	HBG009576.
InParanoid	Q9NTQ9.
KO	K07623.
OMA	YDMPRVV.
OrthoDB	EOG4S7JR0.
PhylomeDB	Q9NTQ9.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
Bgee	Q9NTQ9.
CleanEx	HS_GJB4.
Genevestigator	Q9NTQ9.
GermOnline	ENSG00000189433. Homo sapiens.
Family and domain databases
InterPro	IPR000500. Connexin. IPR002271. Connexin303. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. [Graphical view]
PANTHER	PTHR11984. PTHR11984. 1 hit. PTHR11984:SF30. PTHR11984:SF30. 1 hit.
Pfam	PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view]
PRINTS	PR00206. CONNEXIN. PR01142. CONNEXINB5.
SMART	SM00037. CNX. 1 hit. SM01089. Connexin_CCC. 1 hit. [Graphical view]
PROSITE	PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	127534.
NextBio	82105.
SOURCE	Search...

Entry information

Entry name

CXB4_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 109 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.