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Bestrophin-1 (Vitelliform macular dystrophy protein 2 homolog)

 BEST1_MOUSE             Reviewed;         551 AA.
O88870; B2RSY6; Q6H1V0;
15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
27-JUL-2011, sequence version 3.
25-OCT-2017, entry version 124.
RecName: Full=Bestrophin-1;
AltName: Full=Vitelliform macular dystrophy protein 2 homolog;
Name=Best1; Synonyms=Bmd1, Vmd2;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
STRAIN=C57BL/6J; TISSUE=Testis;
PubMed=15218265; DOI=10.1159/000078016;
Kraemer F., Stoehr H., Weber B.H.F.;
"Cloning and characterization of the murine Vmd2 RFP-TM gene family.";
Cytogenet. Genome Res. 105:107-114(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 178-258.
PubMed=9662395; DOI=10.1038/915;
Petrukhin K., Koisti M.J., Bakall B., Li W., Xie G., Marknell T.,
Sandgren O., Forsman K., Holmgren G., Andreasson S., Vujic M.,
Bergen A.A.B., McGarty-Dugan V., Figueroa D., Austin C.P.,
Metzker M.L., Caskey C.T., Wadelius C.;
"Identification of the gene responsible for Best macular dystrophy.";
Nat. Genet. 19:241-247(1998).
-!- FUNCTION: Forms calcium-sensitive chloride channels. Permeable to
bicarbonate (By similarity). {ECO:0000250}.
-!- SUBUNIT: Tetramer or pentamers. May interact with PPP2CB and
PPP2R1B (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
Basolateral cell membrane {ECO:0000250}.
-!- PTM: Phosphorylated by PP2A. {ECO:0000250}.
-!- SIMILARITY: Belongs to the bestrophin family. {ECO:0000305}.
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EMBL; AY450427; AAS09922.1; -; mRNA.
EMBL; BC139060; AAI39061.1; -; mRNA.
EMBL; BC139061; AAI39062.1; -; mRNA.
EMBL; AF057171; AAC64345.1; -; mRNA.
CCDS; CCDS29568.1; -.
RefSeq; NP_036043.2; NM_011913.2.
UniGene; Mm.31577; -.
ProteinModelPortal; O88870; -.
SMR; O88870; -.
STRING; 10090.ENSMUSP00000113053; -.
PhosphoSitePlus; O88870; -.
EPD; O88870; -.
PaxDb; O88870; -.
PRIDE; O88870; -.
Ensembl; ENSMUST00000117346; ENSMUSP00000113053; ENSMUSG00000037418.
GeneID; 24115; -.
KEGG; mmu:24115; -.
UCSC; uc008gou.2; mouse.
CTD; 7439; -.
MGI; MGI:1346332; Best1.
eggNOG; KOG3547; Eukaryota.
eggNOG; ENOG410XS3J; LUCA.
GeneTree; ENSGT00390000002997; -.
HOGENOM; HOG000115678; -.
HOVERGEN; HBG044928; -.
InParanoid; O88870; -.
KO; K13878; -.
OMA; RSGYHSA; -.
OrthoDB; EOG091G06XO; -.
TreeFam; TF315803; -.
Reactome; R-MMU-2672351; Stimuli-sensing channels.
PRO; PR:O88870; -.
Proteomes; UP000000589; Chromosome 19.
Bgee; ENSMUSG00000037418; -.
CleanEx; MM_BEST1; -.
Genevisible; O88870; MM.
GO; GO:0016323; C:basolateral plasma membrane; ISS:UniProtKB.
GO; GO:0034707; C:chloride channel complex; ISO:MGI.
GO; GO:0005254; F:chloride channel activity; ISO:MGI.
GO; GO:0042802; F:identical protein binding; ISO:MGI.
GO; GO:0006821; P:chloride transport; ISO:MGI.
GO; GO:0050908; P:detection of light stimulus involved in visual perception; IMP:MGI.
GO; GO:0051924; P:regulation of calcium ion transport; IMP:MGI.
GO; GO:0030321; P:transepithelial chloride transport; ISO:MGI.
InterPro; IPR033041; Best1.
InterPro; IPR000615; Bestrophin.
InterPro; IPR021134; Bestrophin/UPF0187.
PANTHER; PTHR10736; PTHR10736; 1.
PANTHER; PTHR10736:SF4; PTHR10736:SF4; 1.
Pfam; PF01062; Bestrophin; 1.
2: Evidence at transcript level;
Calcium; Cell membrane; Chloride; Chloride channel; Complete proteome;
Ion channel; Ion transport; Membrane; Phosphoprotein;
Reference proteome; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 551 Bestrophin-1.
/FTId=PRO_0000143116.
TOPO_DOM 1 25 Cytoplasmic. {ECO:0000255}.
TRANSMEM 26 46 Helical. {ECO:0000255}.
TOPO_DOM 47 70 Extracellular. {ECO:0000255}.
TRANSMEM 71 91 Helical. {ECO:0000255}.
TOPO_DOM 92 178 Cytoplasmic. {ECO:0000255}.
TRANSMEM 179 199 Helical. {ECO:0000255}.
TOPO_DOM 200 228 Extracellular. {ECO:0000255}.
INTRAMEM 229 249 {ECO:0000255}.
TOPO_DOM 250 270 Extracellular. {ECO:0000255}.
TRANSMEM 271 291 Helical. {ECO:0000255}.
TOPO_DOM 292 551 Cytoplasmic. {ECO:0000255}.
CONFLICT 255 255 R -> K (in Ref. 1; AAS09922 and 3;
AAC64345). {ECO:0000305}.
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


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