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Bestrophin-3 (Vitelliform macular dystrophy 2-like protein 3)

 BEST3_HUMAN             Reviewed;         668 AA.
Q8N1M1; B5MDI8; F8VVZ2; Q53YQ7; Q8N356; Q8NFT9; Q9BR80;
21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
18-JUL-2018, entry version 137.
RecName: Full=Bestrophin-3;
AltName: Full=Vitelliform macular dystrophy 2-like protein 3;
Name=BEST3; Synonyms=VMD2L3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] (ISOFORM 1), 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 MRNA] (ISOFORM 2).
TISSUE=Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16541075; DOI=10.1038/nature04569;
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
Kucherlapati R., Weinstock G., Gibbs R.A.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 6).
TISSUE=Lymph;
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).
-!- FUNCTION: Forms calcium-sensitive chloride channels. Permeable to
bicarbonate. {ECO:0000269|PubMed:12907679}.
-!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=2;
IsoId=Q8N1M1-2; Sequence=Displayed;
Name=1;
IsoId=Q8N1M1-1; Sequence=VSP_008977, VSP_008978;
Name=4;
IsoId=Q8N1M1-4; Sequence=VSP_008981, VSP_008982, VSP_008983;
Name=5;
IsoId=Q8N1M1-5; Sequence=VSP_046979, VSP_046980;
Note=Gene prediction based on EST data.;
Name=6;
IsoId=Q8N1M1-6; Sequence=VSP_008981;
-!- TISSUE SPECIFICITY: Present in skeletal muscle and weakly in
brain, spinal cord, bone marrow and retina.
{ECO:0000269|PubMed:12032738}.
-!- SIMILARITY: Belongs to the bestrophin family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF440758; AAM76997.1; -; mRNA.
EMBL; AY515706; AAR99656.1; -; mRNA.
EMBL; AK096459; BAC04797.1; -; mRNA.
EMBL; AC016153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC018921; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC025263; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC151138; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; BC006440; AAH06440.1; -; mRNA.
CCDS; CCDS41810.1; -. [Q8N1M1-5]
CCDS; CCDS61192.1; -. [Q8N1M1-6]
CCDS; CCDS61193.1; -. [Q8N1M1-1]
CCDS; CCDS73496.1; -. [Q8N1M1-4]
CCDS; CCDS8992.2; -. [Q8N1M1-2]
RefSeq; NP_001269542.1; NM_001282613.1. [Q8N1M1-6]
RefSeq; NP_001269543.1; NM_001282614.1. [Q8N1M1-1]
RefSeq; NP_001269544.1; NM_001282615.1. [Q8N1M1-4]
RefSeq; NP_001269545.1; NM_001282616.1. [Q8N1M1-4]
RefSeq; NP_116124.2; NM_032735.2. [Q8N1M1-2]
RefSeq; NP_689652.2; NM_152439.3. [Q8N1M1-5]
RefSeq; XP_011536263.1; XM_011537961.1. [Q8N1M1-6]
UniGene; Hs.280782; -.
ProteinModelPortal; Q8N1M1; -.
SMR; Q8N1M1; -.
IntAct; Q8N1M1; 1.
STRING; 9606.ENSP00000332413; -.
iPTMnet; Q8N1M1; -.
PhosphoSitePlus; Q8N1M1; -.
BioMuta; BEST3; -.
DMDM; 38503351; -.
PaxDb; Q8N1M1; -.
PeptideAtlas; Q8N1M1; -.
PRIDE; Q8N1M1; -.
ProteomicsDB; 71617; -.
ProteomicsDB; 71618; -. [Q8N1M1-1]
ProteomicsDB; 71619; -. [Q8N1M1-4]
DNASU; 144453; -.
Ensembl; ENST00000266661; ENSP00000266661; ENSG00000127325. [Q8N1M1-4]
Ensembl; ENST00000330891; ENSP00000332413; ENSG00000127325. [Q8N1M1-2]
Ensembl; ENST00000331471; ENSP00000329064; ENSG00000127325. [Q8N1M1-1]
Ensembl; ENST00000488961; ENSP00000433213; ENSG00000127325. [Q8N1M1-5]
Ensembl; ENST00000551160; ENSP00000449377; ENSG00000127325. [Q8N1M1-4]
Ensembl; ENST00000553096; ENSP00000449548; ENSG00000127325. [Q8N1M1-6]
GeneID; 144453; -.
KEGG; hsa:144453; -.
UCSC; uc001svd.4; human. [Q8N1M1-2]
CTD; 144453; -.
EuPathDB; HostDB:ENSG00000127325.18; -.
GeneCards; BEST3; -.
H-InvDB; HIX0010809; -.
HGNC; HGNC:17105; BEST3.
HPA; HPA054582; -.
MIM; 607337; gene.
neXtProt; NX_Q8N1M1; -.
OpenTargets; ENSG00000127325; -.
PharmGKB; PA162377503; -.
eggNOG; KOG3547; Eukaryota.
eggNOG; ENOG410XS3J; LUCA.
GeneTree; ENSGT00390000002997; -.
HOGENOM; HOG000115678; -.
HOVERGEN; HBG080894; -.
InParanoid; Q8N1M1; -.
KO; K13880; -.
OMA; KRFLSAH; -.
OrthoDB; EOG091G06XO; -.
PhylomeDB; Q8N1M1; -.
TreeFam; TF315803; -.
Reactome; R-HSA-2672351; Stimuli-sensing channels.
ChiTaRS; BEST3; human.
GenomeRNAi; 144453; -.
PRO; PR:Q8N1M1; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000127325; -.
CleanEx; HS_BEST3; -.
ExpressionAtlas; Q8N1M1; baseline and differential.
Genevisible; Q8N1M1; 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.
GO; GO:0043271; P:negative regulation of ion transport; IEA:Ensembl.
InterPro; IPR000615; Bestrophin.
InterPro; IPR021134; Bestrophin/UPF0187.
PANTHER; PTHR10736; PTHR10736; 1.
Pfam; PF01062; Bestrophin; 1.
2: Evidence at transcript level;
Alternative splicing; Calcium; Cell membrane; Chloride;
Chloride channel; Complete proteome; Ion channel; Ion transport;
Membrane; Polymorphism; Reference proteome; Transmembrane;
Transmembrane helix; Transport.
CHAIN 1 668 Bestrophin-3.
/FTId=PRO_0000143121.
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 292 668 Cytoplasmic. {ECO:0000255}.
VAR_SEQ 1 162 Missing (in isoform 5). {ECO:0000305}.
/FTId=VSP_046979.
VAR_SEQ 1 106 Missing (in isoform 4 and isoform 6).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_008981.
VAR_SEQ 161 178 GFMTTDERKLFNHLKSPH -> ERTGMKPILPSSFEMQSF
(in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_008982.
VAR_SEQ 179 668 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_008983.
VAR_SEQ 239 289 Missing (in isoform 5). {ECO:0000305}.
/FTId=VSP_046980.
VAR_SEQ 368 398 LSGSDFPDEEWLWDYEKHGHRHSMIRRVKRF -> KQMPKN
EWKMEDIKIPLPQPQFQCAKSDPGG (in isoform 1).
{ECO:0000303|PubMed:12032738,
ECO:0000303|PubMed:12907679}.
/FTId=VSP_008977.
VAR_SEQ 399 668 Missing (in isoform 1).
{ECO:0000303|PubMed:12032738,
ECO:0000303|PubMed:12907679}.
/FTId=VSP_008978.
VARIANT 43 43 Y -> H (in dbSNP:rs1025016).
/FTId=VAR_048409.
VARIANT 622 622 E -> G (in dbSNP:rs17106884).
/FTId=VAR_048410.
SEQUENCE 668 AA; 76107 MW; FDCBD7154C402EA2 CRC64;
MTVTYSSKVA NATFFGFHRL LLKWRGSIYK LLYREFIVFA VLYTAISLVY RLLLTGVQKR
YFEKLSIYCD RYAEQIPVTF VLGFYVTLVV NRWWNQFVNL PWPDRLMFLI SSSVHGSDEH
GRLLRRTLMR YVNLTSLLIF RSVSTAVYKR FPTMDHVVEA GFMTTDERKL FNHLKSPHLK
YWVPFIWFGN LATKARNEGR IRDSVDLQSL MTEMNRYRSW CSLLFGYDWV GIPLVYTQVV
TLAVYTFFFA CLIGRQFLDP TKGYAGHDLD LYIPIFTLLQ FFFYAGWLKV AEQLINPFGE
DDDDFETNWC IDRNLQVSLL AVDEMHMSLP KMKKDIYWDD SAARPPYTLA AADYCIPSFL
GSTVQMGLSG SDFPDEEWLW DYEKHGHRHS MIRRVKRFLS AHEHPSSPRR RSYRRQTSDS
SMFLPRDDLS PARDLLDVPS RNPPRASPTW KKSCFPEGSP TLHFSMGELS TIRETSQTST
LQSLTPQSSV RTSPIKMPLV PEVLITAAEA PVPTSGGYHH DSATSILSSE FTGVQPSKTE
QQQGPMGSIL SPSEKETPPG GPSPQTVSAS AEENIFNCEE DPGDTFLKRW SLPGFLGSSH
TSLGNLSPDP MSSQPALLID TETSSEISGI NIVAGSRVSS DMLYLMENLD TKETDIIELN
KETEESPK


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