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H9U1J4

- H9U1J4_HUMAN

UniProt

H9U1J4 - H9U1J4_HUMAN

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Protein
Gap junction protein
Gene
GJB2, hCG_18943
Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript 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 By similarity.UniRule annotation

GO - Molecular functioni

  1. gap junction channel activity Source: Ensembl
Complete GO annotation...

GO - Biological processi

  1. cell-cell signaling Source: Ensembl
  2. male genitalia development Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction proteinUniRule annotation
Gene namesi
Name:GJB2Imported
ORF Names:hCG_18943Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

Membrane; Multi-pass membrane protein By similarity UniRule annotation

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
  3. lateral plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membraneSAAS annotations, Gap junctionUniRule annotationSAAS annotations, Membrane

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins By similarity.UniRule annotation

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixSAAS annotations

Phylogenomic databases

KOiK07621.
OMAiMYVFYIM.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01139. CONNEXINB2.
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.

H9U1J4-1 [UniParc]FASTAAdd to Basket

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MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD    50
FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH 100
EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF 150
MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG 200
ICILLNVTEL CYLLIRYCSG KSKKPV 226
Length:226
Mass (Da):26,215
Last modified:June 13, 2012 - v1
Checksum:iD35293C6747E908C
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
JQ342677 mRNA. Translation: AFG29040.1.
JQ595559 Genomic DNA. Translation: AFG29041.1.
CH471075 Genomic DNA. Translation: EAX08252.1.
CH471075 Genomic DNA. Translation: EAX08253.1.
RefSeqiNP_003995.2. NM_004004.5.
XP_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGeneiHs.524894.
Hs.714494.

Genome annotation databases

GeneIDi2706.
KEGGihsa:2706.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
JQ342677 mRNA. Translation: AFG29040.1 .
JQ595559 Genomic DNA. Translation: AFG29041.1 .
CH471075 Genomic DNA. Translation: EAX08252.1 .
CH471075 Genomic DNA. Translation: EAX08253.1 .
RefSeqi NP_003995.2. NM_004004.5.
XP_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGenei Hs.524894.
Hs.714494.

3D structure databases

ModBasei Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 2706.
KEGGi hsa:2706.

Organism-specific databases

CTDi 2706.

Phylogenomic databases

KOi K07621.
OMAi MYVFYIM.

Miscellaneous databases

GenomeRNAii 2706.
NextBioi 10698.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01139. CONNEXINB2.
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. "The sequence of the human genome."
    Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.
    , Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.
    Science 291:1304-1351(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
  2. Cited for: NUCLEOTIDE SEQUENCE.
  3. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
    Sadr-Nabavi A., Davari H.
    Submitted (DEC-2011) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.
  4. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
    Sadr-Nabavi A., Davari H.
    Submitted (JAN-2012) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiH9U1J4_HUMAN
AccessioniPrimary (citable) accession number: H9U1J4
Entry historyi
Integrated into UniProtKB/TrEMBL: June 13, 2012
Last sequence update: June 13, 2012
Last modified: July 9, 2014
This is version 22 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.

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