CXE1_MOUSE
ID CXE1_MOUSE Reviewed; 205 AA.
AC Q9CX92;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Gap junction epsilon-1 protein {ECO:0000312|MGI:MGI:1923993};
DE AltName: Full=Connexin-23 {ECO:0000303|PubMed:18849090};
DE Short=Cx23 {ECO:0000303|PubMed:18849090};
GN Name=Gje1 {ECO:0000303|PubMed:18849090, ECO:0000312|MGI:MGI:1923993};
GN Synonyms=Cx23 {ECO:0000303|PubMed:18849090},
GN Gjf1 {ECO:0000303|PubMed:18385072};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Eye;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF
RP ARG-32.
RX PubMed=18385072; DOI=10.1167/iovs.07-1033;
RA Puk O., Loester J., Dalke C., Soewarto D., Fuchs H., Budde B.,
RA Nuernberg P., Wolf E., de Angelis M.H., Graw J.;
RT "Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early
RT lens development and causes a variable small-eye phenotype.";
RL Invest. Ophthalmol. Vis. Sci. 49:1525-1532(2008).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
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).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=27038752; DOI=10.1016/j.exer.2016.03.025;
RA Berthoud V.M., Minogue P.J., Snabb J.I., Dzhashiashvili Y., Novak L.A.,
RA Zoltoski R.K., Popko B., Beyer E.C.;
RT "Connexin23 deletion does not affect lens transparency.";
RL Exp. Eye Res. 146:283-288(2016).
CC -!- FUNCTION: Mediates calcium-independent ATP release, suggesting activity
CC as a hemichannel (PubMed:18849090). Does not form functional gap
CC junctions (PubMed:18849090). May play a non-essential role in eye lens
CC development (PubMed:18385072, PubMed:27038752).
CC {ECO:0000269|PubMed:18385072, ECO:0000269|PubMed:27038752}.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC {ECO:0000250|UniProtKB:P08050}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18849090};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- TISSUE SPECIFICITY: Highly expressed in lens, where it is mainly found
CC in lens fibers and to a lesser extent in lens epithelium
CC (PubMed:18385072, PubMed:18849090). Weakly expressed in retina
CC (PubMed:18849090). Not detected in other tissues tested
CC (PubMed:18385072, PubMed:18849090). {ECO:0000269|PubMed:18385072,
CC ECO:0000269|PubMed:18849090}.
CC -!- DEVELOPMENTAL STAGE: Expressed at the posterior region of the lens
CC vesicle at embryonic stage 11.5 dpc. Detected at the tip of elongating
CC lens fiber cells at stage 12.5 dpc. Expressed in lens epithelial cells,
CC and weakly in retina, at stage 15.5 dpc. {ECO:0000269|PubMed:18385072}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype. Eye morphology appears to
CC be normal with no significant effects on lens transparency and
CC refraction. Expression levels of the connexins Cx46 and Cx50 in lens
CC tissue are slightly reduced. {ECO:0000269|PubMed:27038752}.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
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DR EMBL; AK018698; BAB31350.1; -; mRNA.
DR CCDS; CCDS48505.1; -.
DR RefSeq; NP_083998.1; NM_029722.1.
DR AlphaFoldDB; Q9CX92; -.
DR SMR; Q9CX92; -.
DR STRING; 10090.ENSMUSP00000020016; -.
DR TCDB; 1.A.24.1.9; the gap junction-forming connexin (connexin) family.
DR PaxDb; Q9CX92; -.
DR PRIDE; Q9CX92; -.
DR Antibodypedia; 8535; 27 antibodies from 9 providers.
DR Ensembl; ENSMUST00000020016; ENSMUSP00000020016; ENSMUSG00000019867.
DR GeneID; 76743; -.
DR KEGG; mmu:76743; -.
DR UCSC; uc007elo.1; mouse.
DR CTD; 100126572; -.
DR MGI; MGI:1923993; Gje1.
DR VEuPathDB; HostDB:ENSMUSG00000019867; -.
DR eggNOG; ENOG502RVMN; Eukaryota.
DR GeneTree; ENSGT01050000244962; -.
DR HOGENOM; CLU_115891_0_0_1; -.
DR InParanoid; Q9CX92; -.
DR OMA; IRMFFLG; -.
DR OrthoDB; 1100904at2759; -.
DR PhylomeDB; Q9CX92; -.
DR TreeFam; TF329606; -.
DR BioGRID-ORCS; 76743; 0 hits in 69 CRISPR screens.
DR ChiTaRS; Gjc3; mouse.
DR PRO; PR:Q9CX92; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q9CX92; protein.
DR Bgee; ENSMUSG00000019867; Expressed in lens of camera-type eye and 4 other tissues.
DR Genevisible; Q9CX92; MM.
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; IMP:MGI.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0002088; P:lens development in camera-type eye; IMP:MGI.
DR GO; GO:0035265; P:organ growth; IMP:MGI.
DR Gene3D; 1.20.1440.80; -; 2.
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 PRINTS; PR00206; CONNEXIN.
DR SMART; SM01089; Connexin_CCC; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Developmental protein; Disulfide bond; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..205
FT /note="Gap junction epsilon-1 protein"
FT /id="PRO_0000317612"
FT TOPO_DOM 1..22
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 23..43
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 44..74
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 75..95
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 96..111
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 112..132
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 133..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..147
FT /evidence="ECO:0000250|UniProtKB:P29033"
FT MUTAGEN 32
FT /note="R->Q: In Aey12; dominant negative mutation. Viable
FT and fertile with a small eye phenotype. The lens is absent
FT and only the lens envelope remains. The retina is misfolded
FT and poorly differentiated. Heterozygotes show variable
FT degrees of lens opacity and abnormal primary lens fiber
FT elongation. Defects are apparent from embryonic stage 12.5
FT dpc onwards."
FT /evidence="ECO:0000269|PubMed:18385072"
SQ SEQUENCE 205 AA; 23831 MW; 6250FACFCB7A4C86 CRC64;
MSLNYIKNFY EGCVKPPTVI GQFHTLFFGS VRMFFLGVLG FAVYGNEALH FSCDPDKREI
NLFCYNQFRP ITPQVFWALQ LVIVLLPGAI FHLYAACKSI NQDCILQKPV YTVIYVLSVL
LRISLEVFAF WLQIHLFGFQ VKPIYLCDTE SLGKKPNILK CMVPEHFEKT IFLIAMYTFT
VITMVLCVAE VFEIIFRRSC FLFKR
