CXB7_HUMAN
ID CXB7_HUMAN Reviewed; 223 AA.
AC Q6PEY0; B3KXL0; Q96KP0;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Gap junction beta-7 protein;
DE AltName: Full=Connexin-25;
DE Short=Cx25;
GN Name=GJB7; Synonyms=CX25;
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=12108537; DOI=10.1515/bc.2002.076;
RA Willecke K., Eiberger J., Degen J., Eckardt D., Romualdi A., Guldenagel M.,
RA Deutsch U., Soehl G.;
RT "Structural and functional diversity of connexin genes in the mouse and
RT human genome.";
RL Biol. Chem. 383:725-737(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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).
RN [5]
RP FUNCTION.
RX PubMed=12064583; DOI=10.3109/15419060109080718;
RA Bondarev I., Vine A., Bertram J.S.;
RT "Cloning and functional expression of a novel human connexin-25 gene.";
RL Cell Commun. Adhes. 8:167-171(2001).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=12881038; DOI=10.1080/15419060302063;
RA Soehl G., Nielsen P.A., Eiberger J., Willecke K.;
RT "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1,
RT and hCx62 differ from their putative mouse orthologues.";
RL Cell Commun. Adhes. 10:27-36(2003).
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. {ECO:0000250,
CC ECO:0000269|PubMed:12064583}.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}. Cell junction, gap junction {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Weakly expressed in placenta.
CC {ECO:0000269|PubMed:12881038}.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
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DR EMBL; AJ414563; CAC93845.1; -; Genomic_DNA.
DR EMBL; AK127554; BAG54522.1; -; mRNA.
DR EMBL; AL160258; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC057813; AAH57813.1; -; mRNA.
DR CCDS; CCDS5008.1; -.
DR RefSeq; NP_940970.1; NM_198568.2.
DR RefSeq; XP_005248773.1; XM_005248716.2.
DR AlphaFoldDB; Q6PEY0; -.
DR SMR; Q6PEY0; -.
DR BioGRID; 131983; 55.
DR IntAct; Q6PEY0; 51.
DR STRING; 9606.ENSP00000435355; -.
DR BioMuta; GJB7; -.
DR DMDM; 74749171; -.
DR PaxDb; Q6PEY0; -.
DR PeptideAtlas; Q6PEY0; -.
DR PRIDE; Q6PEY0; -.
DR Antibodypedia; 57965; 91 antibodies from 16 providers.
DR DNASU; 375519; -.
DR Ensembl; ENST00000525899.6; ENSP00000435355.1; ENSG00000164411.12.
DR GeneID; 375519; -.
DR KEGG; hsa:375519; -.
DR MANE-Select; ENST00000525899.6; ENSP00000435355.1; NM_198568.3; NP_940970.1.
DR UCSC; uc003plo.3; human.
DR CTD; 375519; -.
DR DisGeNET; 375519; -.
DR GeneCards; GJB7; -.
DR HGNC; HGNC:16690; GJB7.
DR HPA; ENSG00000164411; Group enriched (fallopian tube, pituitary gland, placenta).
DR MIM; 611921; gene.
DR neXtProt; NX_Q6PEY0; -.
DR OpenTargets; ENSG00000164411; -.
DR PharmGKB; PA134949515; -.
DR VEuPathDB; HostDB:ENSG00000164411; -.
DR eggNOG; ENOG502QTN2; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; Q6PEY0; -.
DR OMA; KCCLQKY; -.
DR OrthoDB; 1051298at2759; -.
DR PhylomeDB; Q6PEY0; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; Q6PEY0; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; Q6PEY0; -.
DR BioGRID-ORCS; 375519; 6 hits in 1054 CRISPR screens.
DR ChiTaRS; GJB7; human.
DR GeneWiki; GJB7; -.
DR GenomeRNAi; 375519; -.
DR Pharos; Q6PEY0; Tbio.
DR PRO; PR:Q6PEY0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q6PEY0; protein.
DR Bgee; ENSG00000164411; Expressed in right uterine tube and 71 other tissues.
DR ExpressionAtlas; Q6PEY0; 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; IDA:UniProtKB.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0055085; P:transmembrane transport; IDA:UniProtKB.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
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; 2.
DR PRINTS; PR00206; CONNEXIN.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 2: Evidence at transcript level;
KW Cell junction; Cell membrane; Gap junction; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..223
FT /note="Gap junction beta-7 protein"
FT /id="PRO_0000271343"
FT TOPO_DOM 1..19
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..96
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 97..121
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 122..142
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 143..177
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 178..198
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 199..223
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VARIANT 20
FT /note="T -> I (in dbSNP:rs4707358)"
FT /id="VAR_047627"
FT VARIANT 177
FT /note="T -> M (in dbSNP:rs41273281)"
FT /id="VAR_061125"
FT VARIANT 206
FT /note="F -> L (in dbSNP:rs6934603)"
FT /id="VAR_047628"
FT CONFLICT 43
FT /note="V -> M (in Ref. 1; CAC93845)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 223 AA; 25860 MW; 4688BDD75E176CC0 CRC64;
MSWMFLRDLL SGVNKYSTGT GWIWLAVVFV FRLLVYMVAA EHVWKDEQKE FECNSRQPGC
KNVCFDDFFP ISQVRLWALQ LIMVSTPSLL VVLHVAYHEG REKRHRKKLY VSPGTMDGGL
WYAYLISLIV KTGFEIGFLV LFYKLYDGFS VPYLIKCDLK PCPNTVDCFI SKPTEKTIFI
LFLVITSCLC IVLNFIELSF LVLKCFIKCC LQKYLKKPQV LSV
