CXB5_HUMAN
ID CXB5_HUMAN Reviewed; 273 AA.
AC O95377; Q9UPA3;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Gap junction beta-5 protein;
DE AltName: Full=Connexin-31.1;
DE Short=Cx31.1;
GN Name=GJB5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9843209; DOI=10.1038/3840;
RA Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H. Jr.,
RA DiGiovanna J.J., Compton J.G., Bale S.J.;
RT "Mutations in the human connexin gene GJB3 cause erythrokeratodermia
RT variabilis.";
RL Nat. Genet. 20:366-369(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Xia J.-H., Liu C.-Y., Zheng D., Pan Q., Xie W.;
RT "Molecular cloning of human connexin 31 and 31.1.";
RL Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC -!- INTERACTION:
CC O95377; Q9BQE5: APOL2; NbExp=3; IntAct=EBI-3909454, EBI-4290634;
CC O95377; O95236-2: APOL3; NbExp=3; IntAct=EBI-3909454, EBI-11976321;
CC O95377; P29972: AQP1; NbExp=3; IntAct=EBI-3909454, EBI-745213;
CC O95377; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-3909454, EBI-12003442;
CC O95377; P21964: COMT; NbExp=3; IntAct=EBI-3909454, EBI-372265;
CC O95377; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-3909454, EBI-12019274;
CC O95377; O43169: CYB5B; NbExp=3; IntAct=EBI-3909454, EBI-1058710;
CC O95377; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-3909454, EBI-711490;
CC O95377; Q92520: FAM3C; NbExp=3; IntAct=EBI-3909454, EBI-2876774;
CC O95377; P24593: IGFBP5; NbExp=3; IntAct=EBI-3909454, EBI-720480;
CC O95377; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-3909454, EBI-10266796;
CC O95377; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-3909454, EBI-12033434;
CC O95377; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-3909454, EBI-2830349;
CC O95377; P30301: MIP; NbExp=3; IntAct=EBI-3909454, EBI-8449636;
CC O95377; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-3909454, EBI-12070086;
CC O95377; Q9H115: NAPB; NbExp=3; IntAct=EBI-3909454, EBI-3921185;
CC O95377; Q9UHJ9-5: PGAP2; NbExp=3; IntAct=EBI-3909454, EBI-12092917;
CC O95377; Q5VZY2: PLPP4; NbExp=3; IntAct=EBI-3909454, EBI-10485931;
CC O95377; Q8IY26: PLPP6; NbExp=3; IntAct=EBI-3909454, EBI-11721828;
CC O95377; P54315: PNLIPRP1; NbExp=3; IntAct=EBI-3909454, EBI-8652812;
CC O95377; Q9NS64: RPRM; NbExp=3; IntAct=EBI-3909454, EBI-1052363;
CC O95377; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-3909454, EBI-10244780;
CC O95377; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-3909454, EBI-8652744;
CC O95377; O75396: SEC22B; NbExp=3; IntAct=EBI-3909454, EBI-1058865;
CC O95377; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-3909454, EBI-10329948;
CC O95377; Q9BRI3: SLC30A2; NbExp=3; IntAct=EBI-3909454, EBI-8644112;
CC O95377; Q9NVC3: SLC38A7; NbExp=3; IntAct=EBI-3909454, EBI-10314552;
CC O95377; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-3909454, EBI-12266234;
CC O95377; Q96JW4: SLC41A2; NbExp=3; IntAct=EBI-3909454, EBI-10290130;
CC O95377; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-3909454, EBI-12188413;
CC O95377; P48230: TM4SF4; NbExp=3; IntAct=EBI-3909454, EBI-8650934;
CC O95377; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-3909454, EBI-10694905;
CC O95377; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-3909454, EBI-2852148;
CC O95377; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-3909454, EBI-12015604;
CC O95377; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-3909454, EBI-12111910;
CC O95377; Q5TGU0: TSPO2; NbExp=3; IntAct=EBI-3909454, EBI-12195249;
CC O95377; Q6UX27-3: VSTM1; NbExp=3; IntAct=EBI-3909454, EBI-12190699;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
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DR EMBL; AF099731; AAC95472.1; -; Genomic_DNA.
DR EMBL; AF052693; AAD18005.1; -; mRNA.
DR EMBL; AL121988; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC004379; AAH04379.1; -; mRNA.
DR CCDS; CCDS382.1; -.
DR RefSeq; NP_005259.1; NM_005268.3.
DR RefSeq; XP_005270808.1; XM_005270751.3.
DR AlphaFoldDB; O95377; -.
DR SMR; O95377; -.
DR BioGRID; 108974; 74.
DR IntAct; O95377; 43.
DR MINT; O95377; -.
DR STRING; 9606.ENSP00000340811; -.
DR iPTMnet; O95377; -.
DR PhosphoSitePlus; O95377; -.
DR BioMuta; GJB5; -.
DR EPD; O95377; -.
DR MassIVE; O95377; -.
DR PaxDb; O95377; -.
DR PeptideAtlas; O95377; -.
DR PRIDE; O95377; -.
DR ProteomicsDB; 50830; -.
DR Antibodypedia; 31495; 165 antibodies from 25 providers.
DR DNASU; 2709; -.
DR Ensembl; ENST00000338513.1; ENSP00000340811.1; ENSG00000189280.3.
DR GeneID; 2709; -.
DR KEGG; hsa:2709; -.
DR MANE-Select; ENST00000338513.1; ENSP00000340811.1; NM_005268.4; NP_005259.1.
DR UCSC; uc001bxu.4; human.
DR CTD; 2709; -.
DR DisGeNET; 2709; -.
DR GeneCards; GJB5; -.
DR HGNC; HGNC:4287; GJB5.
DR HPA; ENSG00000189280; Group enriched (esophagus, skin, vagina).
DR MIM; 604493; gene.
DR neXtProt; NX_O95377; -.
DR OpenTargets; ENSG00000189280; -.
DR PharmGKB; PA28698; -.
DR VEuPathDB; HostDB:ENSG00000189280; -.
DR eggNOG; ENOG502R3YE; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; O95377; -.
DR OMA; HSFYPKY; -.
DR OrthoDB; 955506at2759; -.
DR PhylomeDB; O95377; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; O95377; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; O95377; -.
DR BioGRID-ORCS; 2709; 10 hits in 1062 CRISPR screens.
DR GeneWiki; GJB5; -.
DR GenomeRNAi; 2709; -.
DR Pharos; O95377; Tbio.
DR PRO; PR:O95377; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O95377; protein.
DR Bgee; ENSG00000189280; Expressed in lower esophagus mucosa and 105 other tissues.
DR ExpressionAtlas; O95377; baseline and differential.
DR Genevisible; O95377; HS.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:1905867; P:epididymis development; IEA:Ensembl.
DR GO; GO:0060713; P:labyrinthine layer morphogenesis; IEA:Ensembl.
DR GO; GO:0060708; P:spongiotrophoblast differentiation; IEA:Ensembl.
DR GO; GO:0060707; P:trophoblast giant cell differentiation; IEA:Ensembl.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002271; Connexin311.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01141; CONNEXINB4.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cell membrane; Gap junction; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..273
FT /note="Gap junction beta-5 protein"
FT /id="PRO_0000057868"
FT TOPO_DOM 1..20
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 21..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 99..126
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 127..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 150..187
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 188..210
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 211..273
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
SQ SEQUENCE 273 AA; 31088 MW; C1B9F1A4A2E070BB CRC64;
MNWSIFEGLL SGVNKYSTAF GRIWLSLVFI FRVLVYLVTA ERVWSDDHKD FDCNTRQPGC
SNVCFDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREV QEKRHREAHG ENSGRLYLNP
GKKRGGLWWT YVCSLVFKAS VDIAFLYVFH SFYPKYILPP VVKCHADPCP NIVDCFISKP
SEKNIFTLFM VATAAICILL NLVELIYLVS KRCHECLAAR KAQAMCTGHH PHGTTSSCKQ
DDLLSGDLIF LGSDSHPPLL PDRPRDHVKK TIL
