CXB1_MOUSE
ID CXB1_MOUSE Reviewed; 283 AA.
AC P28230;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2004, sequence version 3.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Gap junction beta-1 protein;
DE AltName: Full=Connexin-32;
DE Short=Cx32;
GN Name=Gjb1; Synonyms=Cxn-32;
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 [MRNA].
RX PubMed=2060697; DOI=10.1016/0012-1606(91)90452-9;
RA Nishi M., Kumar N.M., Gilula N.B.;
RT "Developmental regulation of gap junction gene expression during mouse
RT embryonic development.";
RL Dev. Biol. 146:117-130(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1322820;
RA Willecke K., Nicholson B.J., Dahl E., Kozjek G., Hennemann H.;
RT "Molecular cloning of mouse connexins26 and -32: similar genomic
RT organization but distinct promoter sequences of two gap junction genes.";
RL Eur. J. Cell Biol. 58:81-89(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Liver;
RA Soehl G., Theis M., Hallas G., Brambach S., Dahl E., Kidder G.,
RA Willecke K.;
RT "A new alternatively spliced transcript of the mouse connexin32 gene is
RT expressed in embryonic stem cells, oocytes and liver.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Mammary tumor;
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 DISRUPTION PHENOTYPE.
RX PubMed=12843301; DOI=10.1523/jneurosci.23-13-05963.2003;
RA Menichella D.M., Goodenough D.A., Sirkowski E., Scherer S.S., Paul D.L.;
RT "Connexins are critical for normal myelination in the CNS.";
RL J. Neurosci. 23:5963-5973(2003).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258 AND SER-266, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=18630941; DOI=10.1021/pr800223m;
RA Zhou H., Ye M., Dong J., Han G., Jiang X., Wu R., Zou H.;
RT "Specific phosphopeptide enrichment with immobilized titanium ion affinity
RT chromatography adsorbent for phosphoproteome analysis.";
RL J. Proteome Res. 7:3957-3967(2008).
RN [7]
RP INTERACTION WITH CNST.
RX PubMed=19864490; DOI=10.1093/hmg/ddp490;
RA del Castillo F.J., Cohen-Salmon M., Charollais A., Caille D., Lampe P.D.,
RA Chavrier P., Meda P., Petit C.;
RT "Consortin, a trans-Golgi network cargo receptor for the plasma membrane
RT targeting and recycling of connexins.";
RL Hum. Mol. Genet. 19:262-275(2010).
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. Interacts
CC with CNST. {ECO:0000269|PubMed:19864490}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- DISRUPTION PHENOTYPE: Mice lacking both Gja12 and Gjb1 display a severe
CC demyelination phenotype associated with oligodendrocyte death. These
CC mice develop action tremors, tonic seizures, sporadic convulsions and
CC loss of consciousness preceding death in the sixth week after birth.
CC {ECO:0000269|PubMed:12843301}.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
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DR EMBL; M63802; AAA37296.2; -; mRNA.
DR EMBL; M81447; AAA37496.1; -; Genomic_DNA.
DR EMBL; AJ271753; CAB72446.1; -; Genomic_DNA.
DR EMBL; BC026833; AAH26833.1; -; mRNA.
DR CCDS; CCDS30314.1; -.
DR PIR; B49769; B49769.
DR RefSeq; NP_001289425.1; NM_001302496.1.
DR RefSeq; NP_001289426.1; NM_001302497.1.
DR RefSeq; NP_001289427.1; NM_001302498.1.
DR RefSeq; NP_032150.2; NM_008124.3.
DR AlphaFoldDB; P28230; -.
DR SMR; P28230; -.
DR IntAct; P28230; 1.
DR STRING; 10090.ENSMUSP00000062723; -.
DR iPTMnet; P28230; -.
DR PhosphoSitePlus; P28230; -.
DR jPOST; P28230; -.
DR MaxQB; P28230; -.
DR PaxDb; P28230; -.
DR PRIDE; P28230; -.
DR ProteomicsDB; 284073; -.
DR Antibodypedia; 542; 571 antibodies from 31 providers.
DR DNASU; 14618; -.
DR Ensembl; ENSMUST00000052130; ENSMUSP00000062723; ENSMUSG00000047797.
DR Ensembl; ENSMUST00000119080; ENSMUSP00000113904; ENSMUSG00000047797.
DR Ensembl; ENSMUST00000119190; ENSMUSP00000113516; ENSMUSG00000047797.
DR GeneID; 14618; -.
DR KEGG; mmu:14618; -.
DR UCSC; uc009txk.2; mouse.
DR CTD; 2705; -.
DR MGI; MGI:95719; Gjb1.
DR VEuPathDB; HostDB:ENSMUSG00000047797; -.
DR eggNOG; ENOG502R1QN; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; P28230; -.
DR OMA; HVAYQQH; -.
DR OrthoDB; 1131301at2759; -.
DR PhylomeDB; P28230; -.
DR TreeFam; TF329606; -.
DR Reactome; R-MMU-190704; Oligomerization of connexins into connexons.
DR BioGRID-ORCS; 14618; 0 hits in 73 CRISPR screens.
DR ChiTaRS; Gjb1; mouse.
DR PRO; PR:P28230; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; P28230; protein.
DR Bgee; ENSMUSG00000047797; Expressed in left lobe of liver and 111 other tissues.
DR ExpressionAtlas; P28230; baseline and differential.
DR Genevisible; P28230; MM.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0005921; C:gap junction; IDA:MGI.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016328; C:lateral plasma membrane; ISO:MGI.
DR GO; GO:0005886; C:plasma membrane; IDA:MGI.
DR GO; GO:0032991; C:protein-containing complex; ISO:MGI.
DR GO; GO:0005243; F:gap junction channel activity; ISO:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:1905867; P:epididymis development; IEA:Ensembl.
DR GO; GO:0015868; P:purine ribonucleotide transport; ISO:MGI.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002267; Connexin32.
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; PR01138; CONNEXINB1.
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; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..283
FT /note="Gap junction beta-1 protein"
FT /id="PRO_0000057851"
FT TOPO_DOM 1..22
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 23..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 46..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..95
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 96..130
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 131..153
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 154..191
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 192..214
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 215..283
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P08033"
FT MOD_RES 258
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18630941"
FT MOD_RES 266
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18630941"
FT MOD_RES 277
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P08034"
FT CONFLICT 235
FT /note="F -> S (in Ref. 1; AAA37296)"
FT /evidence="ECO:0000305"
FT CONFLICT 263..266
FT /note="LRRS -> PXPH (in Ref. 1; AAA37296)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 283 AA; 32004 MW; C79FC46AA13BC5D7 CRC64;
MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC
NSVCYDHFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV
KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCEA FPCPNTVDCF
VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS
PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC
