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Protein

Gap junction beta-5 protein

Gene

GJB5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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.

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-5 protein
Alternative name(s):
Connexin-31.1
Short name:
Cx31.1
Gene namesi
Name:GJB5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4287. GJB5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence analysisAdd
BLAST
Transmembranei21 – 4020HelicalSequence analysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence analysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence analysisAdd
BLAST
Topological domaini99 – 12628CytoplasmicSequence analysisAdd
BLAST
Transmembranei127 – 14923HelicalSequence analysisAdd
BLAST
Topological domaini150 – 18738ExtracellularSequence analysisAdd
BLAST
Transmembranei188 – 21023HelicalSequence analysisAdd
BLAST
Topological domaini211 – 27363CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28698.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 273273Gap junction beta-5 proteinPRO_0000057868Add
BLAST

Proteomic databases

PaxDbiO95377.
PRIDEiO95377.

PTM databases

PhosphoSiteiO95377.

Expressioni

Gene expression databases

BgeeiO95377.
CleanExiHS_GJB5.
GenevisibleiO95377. HS.

Organism-specific databases

HPAiHPA038146.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

BioGridi108974. 6 interactions.
IntActiO95377. 5 interactions.
MINTiMINT-8247494.
STRINGi9606.ENSP00000340811.

Structurei

3D structure databases

ProteinModelPortaliO95377.
SMRiO95377. Positions 2-209.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO95377.
KOiK07624.
OMAiVWSDDHK.
OrthoDBiEOG7P2XSS.
PhylomeDBiO95377.
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:SF29. PTHR11984:SF29. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01141. CONNEXINB4.
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.

O95377-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNWSIFEGLL SGVNKYSTAF GRIWLSLVFI FRVLVYLVTA ERVWSDDHKD
60 70 80 90 100
FDCNTRQPGC SNVCFDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREV
110 120 130 140 150
QEKRHREAHG ENSGRLYLNP GKKRGGLWWT YVCSLVFKAS VDIAFLYVFH
160 170 180 190 200
SFYPKYILPP VVKCHADPCP NIVDCFISKP SEKNIFTLFM VATAAICILL
210 220 230 240 250
NLVELIYLVS KRCHECLAAR KAQAMCTGHH PHGTTSSCKQ DDLLSGDLIF
260 270
LGSDSHPPLL PDRPRDHVKK TIL
Length:273
Mass (Da):31,088
Last modified:December 1, 2000 - v2
Checksum:iC1B9F1A4A2E070BB
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF099731 Genomic DNA. Translation: AAC95472.1.
AF052693 mRNA. Translation: AAD18005.1.
AL121988 Genomic DNA. Translation: CAB90271.1.
BC004379 mRNA. Translation: AAH04379.1.
CCDSiCCDS382.1.
RefSeqiNP_005259.1. NM_005268.3.
XP_005270808.1. XM_005270751.2.
UniGeneiHs.198249.

Genome annotation databases

EnsembliENST00000338513; ENSP00000340811; ENSG00000189280.
GeneIDi2709.
KEGGihsa:2709.
UCSCiuc001bxu.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF099731 Genomic DNA. Translation: AAC95472.1.
AF052693 mRNA. Translation: AAD18005.1.
AL121988 Genomic DNA. Translation: CAB90271.1.
BC004379 mRNA. Translation: AAH04379.1.
CCDSiCCDS382.1.
RefSeqiNP_005259.1. NM_005268.3.
XP_005270808.1. XM_005270751.2.
UniGeneiHs.198249.

3D structure databases

ProteinModelPortaliO95377.
SMRiO95377. Positions 2-209.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108974. 6 interactions.
IntActiO95377. 5 interactions.
MINTiMINT-8247494.
STRINGi9606.ENSP00000340811.

PTM databases

PhosphoSiteiO95377.

Proteomic databases

PaxDbiO95377.
PRIDEiO95377.

Protocols and materials databases

DNASUi2709.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338513; ENSP00000340811; ENSG00000189280.
GeneIDi2709.
KEGGihsa:2709.
UCSCiuc001bxu.4. human.

Organism-specific databases

CTDi2709.
GeneCardsiGJB5.
HGNCiHGNC:4287. GJB5.
HPAiHPA038146.
MIMi604493. gene.
neXtProtiNX_O95377.
PharmGKBiPA28698.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO95377.
KOiK07624.
OMAiVWSDDHK.
OrthoDBiEOG7P2XSS.
PhylomeDBiO95377.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJB5.
GenomeRNAii2709.
NextBioi10708.
PROiO95377.
SOURCEiSearch...

Gene expression databases

BgeeiO95377.
CleanExiHS_GJB5.
GenevisibleiO95377. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002271. Connexin303.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF29. PTHR11984:SF29. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01141. CONNEXINB4.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis."
    Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H. Jr., DiGiovanna J.J., Compton J.G., Bale S.J.
    Nat. Genet. 20:366-369(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Molecular cloning of human connexin 31 and 31.1."
    Xia J.-H., Liu C.-Y., Zheng D., Pan Q., Xie W.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "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].
  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: Pancreas.

Entry informationi

Entry nameiCXB5_HUMAN
AccessioniPrimary (citable) accession number: O95377
Secondary accession number(s): Q9UPA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: December 1, 2000
Last modified: May 11, 2016
This is version 130 of the entry and version 2 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.