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 27-MAR-2024, entry version 154. 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 anion channel-forming bestrophin (TC 1.A.46) CC family. Calcium-sensitive chloride channel subfamily. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 10090-ENSMUSP00000113053; -. DR ProteomicsDB; 273555; -. DR Antibodypedia; 28370; 343 antibodies from 29 providers. DR DNASU; 24115; -. DR Ensembl; ENSMUST00000117346.2; ENSMUSP00000113053.2; ENSMUSG00000037418.7. DR GeneID; 24115; -. DR KEGG; mmu:24115; -. DR UCSC; uc008gou.2; mouse. DR AGR; MGI:1346332; -. 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; NLAMQAW; -. DR OrthoDB; 2871698at2759; -. DR PhylomeDB; O88870; -. DR TreeFam; TF315803; -. DR Reactome; R-MMU-2672351; Stimuli-sensing channels. DR BioGRID-ORCS; 24115; 1 hit in 77 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 89 other cell types or tissues. DR ExpressionAtlas; O88870; baseline and differential. 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; IPR000615; Bestrophin. DR InterPro; IPR021134; Bestrophin-like. DR PANTHER; PTHR10736; BESTROPHIN; 1. DR PANTHER; PTHR10736:SF4; BESTROPHIN-1; 1. DR Pfam; PF01062; Bestrophin; 1. DR Genevisible; O88870; MM. 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 //