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Bestrophin-4 (Vitelliform macular dystrophy 2-like protein 2)

 BEST4_HUMAN             Reviewed;         473 AA.
Q8NFU0; Q5JR93;
21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
27-SEP-2017, entry version 121.
RecName: Full=Bestrophin-4;
AltName: Full=Vitelliform macular dystrophy 2-like protein 2;
Name=BEST4; Synonyms=VMD2L2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
PubMed=12032738; DOI=10.1038/sj.ejhg.5200796;
Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.;
"Three novel human VMD2-like genes are members of the evolutionary
highly conserved RFP-TM family.";
Eur. J. Hum. Genet. 10:281-284(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION.
PubMed=12907679; DOI=10.1074/jbc.M306150200;
Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W.,
Nathans J.;
"Structure-function analysis of the bestrophin family of anion
channels.";
J. Biol. Chem. 278:41114-41125(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
[5]
FUNCTION.
PubMed=18400985; DOI=10.1152/ajpcell.00398.2007;
Qu Z., Hartzell H.C.;
"Bestrophin Cl- channels are highly permeable to HCO3-.";
Am. J. Physiol. 294:C1371-C1377(2008).
-!- FUNCTION: Forms calcium-sensitive chloride channels. Permeable to
bicarbonate. {ECO:0000269|PubMed:12907679,
ECO:0000269|PubMed:18400985}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
-!- TISSUE SPECIFICITY: Predominantly found in colon and the weakly in
fetal brain, spinal cord, retina, lung, trachea, testis and
placenta. {ECO:0000269|PubMed:12032738}.
-!- SIMILARITY: Belongs to the bestrophin family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF440757; AAM76996.1; -; mRNA.
EMBL; AY515707; AAR99657.1; -; mRNA.
EMBL; AL592166; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC101823; AAI01824.1; -; mRNA.
CCDS; CCDS514.1; -.
RefSeq; NP_695006.1; NM_153274.2.
RefSeq; XP_016856511.1; XM_017001022.1.
RefSeq; XP_016856512.1; XM_017001023.1.
UniGene; Hs.302513; -.
ProteinModelPortal; Q8NFU0; -.
SMR; Q8NFU0; -.
IntAct; Q8NFU0; 1.
MINT; MINT-7969671; -.
STRING; 9606.ENSP00000361281; -.
iPTMnet; Q8NFU0; -.
PhosphoSitePlus; Q8NFU0; -.
BioMuta; BEST4; -.
DMDM; 38503352; -.
PaxDb; Q8NFU0; -.
PeptideAtlas; Q8NFU0; -.
PRIDE; Q8NFU0; -.
Ensembl; ENST00000372207; ENSP00000361281; ENSG00000142959.
GeneID; 266675; -.
KEGG; hsa:266675; -.
UCSC; uc001cmm.4; human.
CTD; 266675; -.
EuPathDB; HostDB:ENSG00000142959.4; -.
GeneCards; BEST4; -.
HGNC; HGNC:17106; BEST4.
HPA; HPA058564; -.
MIM; 607336; gene.
neXtProt; NX_Q8NFU0; -.
OpenTargets; ENSG00000142959; -.
PharmGKB; PA162377520; -.
eggNOG; KOG3547; Eukaryota.
eggNOG; ENOG410XS3J; LUCA.
GeneTree; ENSGT00390000002997; -.
HOGENOM; HOG000115678; -.
HOVERGEN; HBG044928; -.
InParanoid; Q8NFU0; -.
KO; K13881; -.
OMA; AEKDLYW; -.
OrthoDB; EOG091G06XO; -.
PhylomeDB; Q8NFU0; -.
TreeFam; TF315803; -.
Reactome; R-HSA-2672351; Stimuli-sensing channels.
GenomeRNAi; 266675; -.
PRO; PR:Q8NFU0; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000142959; -.
CleanEx; HS_BEST4; -.
Genevisible; Q8NFU0; HS.
GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
InterPro; IPR000615; Bestrophin.
InterPro; IPR021134; Bestrophin/UPF0187.
PANTHER; PTHR10736; PTHR10736; 1.
Pfam; PF01062; Bestrophin; 1.
2: Evidence at transcript level;
Calcium; Cell membrane; Chloride; Chloride channel; Complete proteome;
Ion channel; Ion transport; Membrane; Polymorphism;
Reference proteome; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 473 Bestrophin-4.
/FTId=PRO_0000143120.
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 250 285 Extracellular. {ECO:0000255}.
TRANSMEM 286 306 Helical. {ECO:0000255}.
TOPO_DOM 307 473 Cytoplasmic. {ECO:0000255}.
VARIANT 62 62 Y -> C (in dbSNP:rs16832245).
/FTId=VAR_048411.
VARIANT 217 217 Y -> S (in dbSNP:rs16832242).
/FTId=VAR_048412.
VARIANT 331 331 Q -> E (in dbSNP:rs16832241).
/FTId=VAR_048413.
VARIANT 402 402 R -> L (in dbSNP:rs16832239).
/FTId=VAR_048414.
SEQUENCE 473 AA; 53497 MW; A8538303EE258D65 CRC64;
MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY RLLLTQEQRY
VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI PLPDQLMCVI SASVHGVDQR
GRLLRRTLIR YANLASVLVL RSVSTRVLKR FPTMEHVVDA GFMSQEERKK FESLKSDFNK
YWVPCVWFTN LAAQARRDGR IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV
TIAVYSFFAL SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA
GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD QYWDEDQPQP
PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS GRPAPAAQTP LLGRFLGVGA
PSPAISLRNF GRVRGTPRPP HLLRFRAEEG GDPEAAARIE EESAESGDEA LEP


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