ID   CXE1_HUMAN              Reviewed;         205 AA.
AC   A6NN92;
DT   05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   24-JUL-2007, sequence version 1.
DT   24-JAN-2024, entry version 103.
DE   RecName: Full=Putative gap junction epsilon-1 protein {ECO:0000305};
DE   AltName: Full=Connexin-23;
DE            Short=Cx23;
GN   Name=GJE1;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [2]
RP   LACK OF EXPRESSION.
RX   PubMed=18849090; DOI=10.1016/j.ejcb.2008.08.004;
RA   Sonntag S., Soehl G., Dobrowolski R., Zhang J., Theis M., Winterhager E.,
RA   Bukauskas F.F., Willecke K.;
RT   "Mouse lens connexin23 (Gje1) does not form functional gap junction
RT   channels but causes enhanced ATP release from HeLa cells.";
RL   Eur. J. Cell Biol. 88:65-77(2009).
CC   -!- FUNCTION: Mediates calcium-independent ATP release, suggesting activity
CC       as a hemichannel. Does not form functional gap junctions.
CC       {ECO:0000250|UniProtKB:Q9CX92}.
CC   -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC       {ECO:0000250|UniProtKB:P08050}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000255}.
CC   -!- TISSUE SPECIFICITY: Not detected in lens or retina.
CC       {ECO:0000269|PubMed:18849090}.
CC   -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC       subfamily. {ECO:0000305}.
CC   -!- CAUTION: Could be the product of a pseudogene. There is no mRNA or EST
CC       support for this sequence, and GJE1 is a pseudogene in most other
CC       primate species. {ECO:0000305|PubMed:18849090}.
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DR   EMBL; AL033522; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS87449.1; -.
DR   AlphaFoldDB; A6NN92; -.
DR   SMR; A6NN92; -.
DR   STRING; 9606.ENSP00000455469; -.
DR   BioMuta; GJE1; -.
DR   jPOST; A6NN92; -.
DR   MassIVE; A6NN92; -.
DR   PaxDb; 9606-ENSP00000455469; -.
DR   PeptideAtlas; A6NN92; -.
DR   Antibodypedia; 8535; 28 antibodies from 9 providers.
DR   Ensembl; ENST00000450456.3; ENSP00000455469.1; ENSG00000203733.6.
DR   MANE-Select; ENST00000450456.3; ENSP00000455469.1; NM_001358410.2; NP_001345339.1.
DR   UCSC; uc063rxt.1; human.
DR   AGR; HGNC:33251; -.
DR   GeneCards; GJE1; -.
DR   HGNC; HGNC:33251; GJE1.
DR   HPA; ENSG00000203733; Not detected.
DR   neXtProt; NX_A6NN92; -.
DR   OpenTargets; ENSG00000203733; -.
DR   VEuPathDB; HostDB:ENSG00000203733; -.
DR   eggNOG; ENOG502RVMN; Eukaryota.
DR   GeneTree; ENSGT01090000260098; -.
DR   HOGENOM; CLU_115891_0_0_1; -.
DR   InParanoid; A6NN92; -.
DR   OMA; WLQIYLF; -.
DR   OrthoDB; 5345894at2759; -.
DR   PhylomeDB; A6NN92; -.
DR   PathwayCommons; A6NN92; -.
DR   SignaLink; A6NN92; -.
DR   Pharos; A6NN92; Tdark.
DR   PRO; PR:A6NN92; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; A6NN92; Protein.
DR   Bgee; ENSG00000203733; Expressed in primordial germ cell in gonad.
DR   ExpressionAtlas; A6NN92; baseline.
DR   GO; GO:0005922; C:connexin complex; IBA:GO_Central.
DR   GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR   GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
DR   GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR   GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl.
DR   GO; GO:0035265; P:organ growth; IEA:Ensembl.
DR   Gene3D; 1.20.1440.80; Gap junction channel protein cysteine-rich domain; 1.
DR   InterPro; IPR000500; Connexin.
DR   InterPro; IPR019570; Connexin_CCC.
DR   InterPro; IPR013092; Connexin_N.
DR   InterPro; IPR038359; Connexin_N_sf.
DR   PANTHER; PTHR11984; CONNEXIN; 1.
DR   PANTHER; PTHR11984:SF1; GAP JUNCTION EPSILON-1 PROTEIN-RELATED; 1.
DR   Pfam; PF00029; Connexin; 2.
DR   SMART; SM01089; Connexin_CCC; 1.
PE   5: Uncertain;
KW   Cell membrane; Disulfide bond; Membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..205
FT                   /note="Putative gap junction epsilon-1 protein"
FT                   /id="PRO_0000317611"
FT   TOPO_DOM        1..23
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        24..44
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        45..76
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        77..97
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        98..112
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        113..133
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        134..170
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        171..191
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        192..205
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   DISULFID        53..161
FT                   /evidence="ECO:0000250|UniProtKB:P29033"
FT   DISULFID        64..148
FT                   /evidence="ECO:0000250|UniProtKB:P29033"
SQ   SEQUENCE   205 AA;  23755 MW;  494389B01BCB07D2 CRC64;
     MSLNYIKNFY EGCVKPPTVI GQFHTLFFGS IRIFFLGVLG FAVYGNEALH FICDPDKREV
     NLFCYNQFRP ITPQVSFSAL QLVIVLVPGA LFHLYAACKS INQECILQKP IYTIIYILSV
     LLRISLAAIA FWLQIYLFGF QVKSLYLCDA RSLGENMIIR CMVPEHFEKT IFLIAINTFT
     TITILLFVAE IFEIIFRRLY FPFRQ
//