BEST1_MOUSE
ID BEST1_MOUSE Reviewed; 551 AA.
AC O88870; B2RSY6; Q6H1V0;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Bestrophin-1;
DE AltName: Full=Vitelliform macular dystrophy protein 2 homolog;
GN Name=Best1; Synonyms=Bmd1, Vmd2;
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].
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=15218265; DOI=10.1159/000078016;
RA Kraemer F., Stoehr H., Weber B.H.F.;
RT "Cloning and characterization of the murine Vmd2 RFP-TM gene family.";
RL Cytogenet. Genome Res. 105:107-114(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 178-258.
RX PubMed=9662395; DOI=10.1038/915;
RA Petrukhin K., Koisti M.J., Bakall B., Li W., Xie G., Marknell T.,
RA Sandgren O., Forsman K., Holmgren G., Andreasson S., Vujic M.,
RA Bergen A.A.B., McGarty-Dugan V., Figueroa D., Austin C.P., Metzker M.L.,
RA Caskey C.T., Wadelius C.;
RT "Identification of the gene responsible for Best macular dystrophy.";
RL Nat. Genet. 19:241-247(1998).
CC -!- FUNCTION: Forms calcium-sensitive chloride channels. Permeable to
CC bicarbonate (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Tetramer or pentamers. May interact with PPP2CB and PPP2R1B
CC (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC Basolateral cell membrane {ECO:0000250}.
CC -!- PTM: Phosphorylated by PP2A. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the bestrophin family. {ECO:0000305}.
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DR EMBL; AY450427; AAS09922.1; -; mRNA.
DR EMBL; BC139060; AAI39061.1; -; mRNA.
DR EMBL; BC139061; AAI39062.1; -; mRNA.
DR EMBL; AF057171; AAC64345.1; -; mRNA.
DR CCDS; CCDS29568.1; -.
DR RefSeq; NP_036043.2; NM_011913.2.
DR AlphaFoldDB; O88870; -.
DR SMR; O88870; -.
DR STRING; 10090.ENSMUSP00000113053; -.
DR iPTMnet; O88870; -.
DR PhosphoSitePlus; O88870; -.
DR EPD; O88870; -.
DR PaxDb; O88870; -.
DR PRIDE; O88870; -.
DR ProteomicsDB; 273555; -.
DR Antibodypedia; 28370; 283 antibodies from 29 providers.
DR DNASU; 24115; -.
DR Ensembl; ENSMUST00000117346; ENSMUSP00000113053; ENSMUSG00000037418.
DR GeneID; 24115; -.
DR KEGG; mmu:24115; -.
DR UCSC; uc008gou.2; mouse.
DR CTD; 7439; -.
DR MGI; MGI:1346332; Best1.
DR VEuPathDB; HostDB:ENSMUSG00000037418; -.
DR eggNOG; KOG3547; Eukaryota.
DR GeneTree; ENSGT00940000158650; -.
DR HOGENOM; CLU_018069_5_0_1; -.
DR InParanoid; O88870; -.
DR OMA; ENMDIAF; -.
DR OrthoDB; 279144at2759; -.
DR PhylomeDB; O88870; -.
DR TreeFam; TF315803; -.
DR Reactome; R-MMU-2672351; Stimuli-sensing channels.
DR BioGRID-ORCS; 24115; 1 hit in 72 CRISPR screens.
DR PRO; PR:O88870; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; O88870; protein.
DR Bgee; ENSMUSG00000037418; Expressed in seminiferous tubule of testis and 86 other tissues.
DR ExpressionAtlas; O88870; baseline and differential.
DR Genevisible; O88870; MM.
DR GO; GO:0009925; C:basal plasma membrane; ISO:MGI.
DR GO; GO:0016323; C:basolateral plasma membrane; ISS:UniProtKB.
DR GO; GO:0034707; C:chloride channel complex; ISO:MGI.
DR GO; GO:0005254; F:chloride channel activity; ISO:MGI.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:0006821; P:chloride transport; ISO:MGI.
DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; IMP:MGI.
DR GO; GO:0051924; P:regulation of calcium ion transport; IMP:MGI.
DR GO; GO:0030321; P:transepithelial chloride transport; ISO:MGI.
DR InterPro; IPR033041; Best1.
DR InterPro; IPR000615; Bestrophin.
DR InterPro; IPR021134; Bestrophin/UPF0187.
DR PANTHER; PTHR10736; PTHR10736; 1.
DR PANTHER; PTHR10736:SF4; PTHR10736:SF4; 1.
DR Pfam; PF01062; Bestrophin; 1.
PE 2: Evidence at transcript level;
KW Calcium; Cell membrane; Chloride; Chloride channel; Ion channel;
KW Ion transport; Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..551
FT /note="Bestrophin-1"
FT /id="PRO_0000143116"
FT TOPO_DOM 1..25
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 26..46
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 47..70
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 71..91
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 92..178
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 200..228
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT INTRAMEM 229..249
FT /evidence="ECO:0000255"
FT TOPO_DOM 250..270
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 271..291
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 292..551
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 459..489
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 464..486
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 255
FT /note="R -> K (in Ref. 1; AAS09922 and 3; AAC64345)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 551 AA; 63684 MW; 0898D6DE08FEEFB9 CRC64;
MTITYTNKVA NARLGSFSSL LLCWRGSIYK LLYGEFLVFI FLYYSIRGLY RMVLSSDQQL
LFEKLALYCD SYIQLIPISF VLGFYVTLVV SRWWSQYENL PWPDRLMIQV SSFVEGKDEE
GRLLRRTLIR YAILGQVLIL RSISTSVYKR FPTLHHLVLA GFMTHGEHKQ LQKLGLPHNT
FWVPWVWFAN LSMKAYLGGR IRDTVLLQSL MNEVCTLRTQ CGQLYAYDWI SIPLVYTQVV
TVAVYSFFLA CLIGRQFLNP NKDYPGHEMD LVVPVFTILQ FLFYMGWLKV AEQLINPFGE
DDDDFETNWI IDRNLQVSLL SVDGMHQNLP PMERDMYWNE AAPQPPYTAA SARSRRHSFM
GSTFNISLKK EDLELWSKEE ADTDKKESGY SSTIGCFLGL QPKNYHLPLK DLKTKLLCSK
NPLLEGQCKD ANQKNQKDVW KFKGLDFLKC VPRFKRRGSH CGPQAPSSHP TEQSAPSSSD
TGDGPSTDYQ EICHMKKKTV EFNLNIPESP TEHLQQRRLD QMSTNIQALM KEHAESYPYR
DEAGTKPVLY E
