CXE1_HUMAN
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 03-AUG-2022, entry version 96.
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; A6NN92; -.
DR PeptideAtlas; A6NN92; -.
DR PRIDE; A6NN92; -.
DR Antibodypedia; 8535; 27 antibodies from 9 providers.
DR Ensembl; ENST00000450456.2; ENSP00000455469.1; ENSG00000203733.5.
DR MANE-Select; ENST00000450456.3; ENSP00000455469.1; NM_001358410.2; NP_001345339.1.
DR UCSC; uc063rxt.1; human.
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; ENSGT01050000244962; -.
DR HOGENOM; CLU_115891_0_0_1; -.
DR InParanoid; A6NN92; -.
DR OMA; IRMFFLG; -.
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 ExpressionAtlas; A6NN92; baseline and differential.
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: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; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 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
