LOCUS       NM_032735               3419 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.
ACCESSION   NM_032735 XM_005268671
VERSION     NM_032735.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3419)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3419)
  AUTHORS   Kajii,T.S., Oka,A., Saito,F., Mitsui,J. and Iida,J.
  TITLE     Whole-exome sequencing in a Japanese pedigree implicates a rare
            non-synonymous single-nucleotide variant in BEST3 as a candidate
            for mandibular prognathism
  JOURNAL   Bone 122, 193-198 (2019)
   PUBMED   30849546
  REMARK    GeneRIF: whole-exome sequencing implicates a rare non-synonymous
            single-nucleotide variants of BEST3 as a candidate for mandibular
            prognathism in the Japanese pedigree.
REFERENCE   3  (bases 1 to 3419)
  AUTHORS   Song,W., Yang,Z. and He,B.
  TITLE     Bestrophin 3 ameliorates TNFalpha-induced inflammation by
            inhibiting NF-kappaB activation in endothelial cells
  JOURNAL   PLoS One 9 (10), e111093 (2014)
   PUBMED   25329324
  REMARK    GeneRIF: results demonstrated that Best-3 is an endogenous
            inhibitor of NF-kappaB signaling pathway in endothelial cells,
            suggesting that forced Best-3 expression may be a novel approach
            for the treatment of vascular inflammatory diseases.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3419)
  AUTHORS   Marsey,L.L. and Winpenny,J.P.
  TITLE     Bestrophin expression and function in the human pancreatic duct
            cell line, CFPAC-1
  JOURNAL   J Physiol 587 (Pt 10), 2211-2224 (2009)
   PUBMED   19237432
  REMARK    GeneRIF: Results provide evidence that the bestrophins are
            expressed in pancreatic duct cells and, more specifically, that
            hBest1 plays a role in the calcium activated chloride channels
            found in these cells.
REFERENCE   5  (bases 1 to 3419)
  AUTHORS   Qu,Z.Q., Yu,K., Cui,Y.Y., Ying,C. and Hartzell,C.
  TITLE     Activation of bestrophin Cl- channels is regulated by C-terminal
            domains
  JOURNAL   J Biol Chem 282 (24), 17460-17467 (2007)
   PUBMED   17442670
  REMARK    GeneRIF: These results suggest that an auto-inhibitory mechanism in
            C termini of bestrophin 3 may be universal among bestrophins
            investigated in the study.
REFERENCE   6  (bases 1 to 3419)
  AUTHORS   Tsunenari,T., Sun,H., Williams,J., Cahill,H., Smallwood,P.,
            Yau,K.W. and Nathans,J.
  TITLE     Structure-function analysis of the bestrophin family of anion
            channels
  JOURNAL   J Biol Chem 278 (42), 41114-41125 (2003)
   PUBMED   12907679
REFERENCE   7  (bases 1 to 3419)
  AUTHORS   Stohr,H., Marquardt,A., Nanda,I., Schmid,M. and Weber,B.H.
  TITLE     Three novel human VMD2-like genes are members of the evolutionary
            highly conserved RFP-TM family
  JOURNAL   Eur J Hum Genet 10 (4), 281-284 (2002)
   PUBMED   12032738
  REMARK    GeneRIF: identified three novel VMD2-related human genes
            demonstrating a high degree of conservation in their respective
            RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]
REFERENCE   8  (bases 1 to 3419)
  AUTHORS   Marquardt,A., Stohr,H., Passmore,L.A., Kramer,F., Rivera,A. and
            Weber,B.H.
  TITLE     Mutations in a novel gene, VMD2, encoding a protein of unknown
            properties cause juvenile-onset vitelliform macular dystrophy
            (Best's disease)
  JOURNAL   Hum Mol Genet 7 (9), 1517-1525 (1998)
   PUBMED   9700209
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK096459.1, AC025263.22 and BC028087.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032735.2.
            
            Summary: BEST3 belongs to the bestrophin family of anion channels,
            which includes BEST1 (MIM 607854), the gene mutant in vitelliform
            macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes,
            BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are
            transmembrane (TM) proteins that share a homology region containing
            a high content of aromatic residues, including an invariant
            arg-phe-pro (RFP) motif. The bestrophin genes share a conserved
            gene structure, with almost identical sizes of the 8 RFP-TM
            domain-encoding exons and highly conserved exon-intron boundaries.
            Each of the 4 bestrophin genes has a unique 3-prime end of variable
            length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al.,
            2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            CDS exon combination :: AK096459.1, AY515706.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2158800, SAMEA2162946 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330891.10/ ENSP00000332413.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-105               AK096459.1         114-218
            106-260             AK096459.1         220-374
            261-261             AC025263.22        135348-135348
            262-2386            AK096459.1         376-2500
            2387-3419           BC028087.1         1858-2890
FEATURES             Location/Qualifiers
     source          1..3419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q15"
     gene            1..3419
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /note="bestrophin 3"
                     /db_xref="GeneID:144453"
                     /db_xref="HGNC:HGNC:17105"
                     /db_xref="MIM:607337"
     exon            1..99
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            100..266
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..2121
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     vitelliform macular dystrophy 2-like 3; vitelliform
                     macular dystrophy 2-like protein 3"
                     /codon_start=1
                     /product="bestrophin-3 isoform 1"
                     /protein_id="NP_116124.2"
                     /db_xref="CCDS:CCDS8992.2"
                     /db_xref="GeneID:144453"
                     /db_xref="HGNC:HGNC:17105"
                     /db_xref="MIM:607337"
                     /translation="MTVTYSSKVANATFFGFHRLLLKWRGSIYKLLYREFIVFAVLYT
                     AISLVYRLLLTGVQKRYFEKLSIYCDRYAEQIPVTFVLGFYVTLVVNRWWNQFVNLPW
                     PDRLMFLISSSVHGSDEHGRLLRRTLMRYVNLTSLLIFRSVSTAVYKRFPTMDHVVEA
                     GFMTTDERKLFNHLKSPHLKYWVPFIWFGNLATKARNEGRIRDSVDLQSLMTEMNRYR
                     SWCSLLFGYDWVGIPLVYTQVVTLAVYTFFFACLIGRQFLDPTKGYAGHDLDLYIPIF
                     TLLQFFFYAGWLKVAEQLINPFGEDDDDFETNWCIDRNLQVSLLAVDEMHMSLPKMKK
                     DIYWDDSAARPPYTLAAADYCIPSFLGSTVQMGLSGSDFPDEEWLWDYEKHGHRHSMI
                     RRVKRFLSAHEHPSSPRRRSYRRQTSDSSMFLPRDDLSPARDLLDVPSRNPPRASPTW
                     KKSCFPEGSPTLHFSMGELSTIRETSQTSTLQSLTPQSSVRTSPIKMPLVPEVLITAA
                     EAPVPTSGGYHHDSATSILSSEFTGVQPSKTEQQQGPMGSILSPSEKETPPGGPSPQT
                     VSASAEENIFNCEEDPGDTFLKRWSLPGFLGSSHTSLGNLSPDPMSSQPALLIDTETS
                     SEISGINIVAGSRVSSDMLYLMENLDTKETDIIELNKETEESPK"
     exon            267..361
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            362..595
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            596..750
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            751..828
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            829..981
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1062
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1214
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..3419
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3398..3403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /note="hexamer: AATAAA"
     polyA_site      3419
                     /gene="BEST3"
                     /gene_synonym="VMD2L3"
                     /note="major polyA site"
ORIGIN      
        1 gacaccgggc gtgcagcacc gacctgaagg cacctcttcg ggggagcccg aaatttgaag
       61 attctctttc ctgtcggaga ctacaaacca aataaataga aaaaactatc caagatgact
      121 gtcacttact ccagtaaagt agcaaatgca actttttttg gatttcatag gttactcctc
      181 aagtggagag gcagcatcta caaactactg tacagggaat ttattgtttt tgctgttctt
      241 tatacagcaa taagtttggt atacagattg ttacttacag gagtccaaaa acgttacttt
      301 gaaaaattat caatttactg tgacagatat gctgaacaaa ttccagtaac ctttgtgctt
      361 gggttttatg ttactctggt agtgaaccga tggtggaacc agtttgtgaa tttgccctgg
      421 ccagacaggc taatgttcct catctctagc agtgttcacg gaagcgacga gcacgggcgc
      481 ctgcttagaa ggacgctgat gcgctacgtc aatctcacct ccctgctcat ctttcgctcg
      541 gtgagcactg ctgtgtacaa aagatttccc acaatggacc acgtggttga agcaggtttt
      601 atgacaacag atgaaaggaa attattcaac cacctcaagt ctcctcatct gaaatattgg
      661 gttccattca tctggtttgg aaatcttgca actaaagccc ggaatgaagg tagaatcaga
      721 gacagtgttg atctgcaatc attgatgact gaaatgaatc gataccgctc ttggtgcagc
      781 ctcttattcg gttatgactg ggttgggatt ccgctggttt acacccaggt tgtcactctt
      841 gctgtctata ccttcttctt tgcgtgcctg attggacgcc agtttttgga tcccaccaaa
      901 ggctacgcag ggcatgactt ggatctttac attcccatct tcaccctcct acaattcttc
      961 ttctatgcag gatggcttaa ggtagcagag cagcttatca acccttttgg agaagatgat
     1021 gatgattttg aaactaactg gtgcattgac agaaatttgc aggtctctct tttagctgtg
     1081 gacgaaatgc acatgagctt acccaagatg aagaaggaca tttactggga cgattctgct
     1141 gctcgcccac catacacatt ggcagctgct gactactgca taccctcatt tctggggtca
     1201 acagtccaga tggggctgtc tgggtccgac tttcctgacg aggagtggct gtgggattat
     1261 gagaagcatg gccatcggca ttccatgata agaagagtca agcggttcct gagtgcccac
     1321 gaacacccct ccagccccag aagaagaagc tacaggaggc agacaagtga cagctccatg
     1381 ttcttacccc gagatgacct cagcccagcc agggacctac tggatgtgcc ctcaagaaac
     1441 ccccccaggg cctcacccac ctggaagaaa tcctgcttcc cagaaggaag ccccacgctg
     1501 cacttcagca tgggagagct gtccaccatc agggagacca gccagacaag cactttacag
     1561 agcctgaccc cacagtccag tgtgagaact tcccccatca aaatgccact ggtacctgag
     1621 gtattgatca cagcagccga agcaccagtg cccacatcag ggggctacca ccatgattcc
     1681 gctacctcca tcttgagctc tgagtttaca ggggttcagc caagcaagac tgagcagcag
     1741 cagggcccca tgggatccat cctgtctccc tcagagaagg agacacctcc tggaggcccc
     1801 agtccccaga cagtttcagc cagcgctgag gaaaatatat tcaactgtga agaagaccct
     1861 ggtgatacct ttctaaaaag gtggagtctt ccgggattcc tggggtccag ccacacttcc
     1921 ctgggaaacc taagtccaga ccccatgagc tctcagccag ctcttttaat tgacacagaa
     1981 acatcctcag agatcagtgg gatcaacatt gtggctggct ctcgagtctc ttctgatatg
     2041 ctgtatttaa tggaaaacct ggacaccaag gaaacagata tcatagagct gaacaaggaa
     2101 actgaggaat cacccaaatg agtgccacca agttctagga cctggttcta gcctagattc
     2161 ttacctcccc aaaagcagca tattaggccc aggacatacc tgaaggctgg tcgacttttt
     2221 aaaaaacatg atcacactgt ataagctact tagaactttg aagggcatta tgatcctgac
     2281 tttttgagag ctgcgaaaaa tcaaacgcat tcacgtcatc caacacaaca tggctttcat
     2341 cagaagttac acagaccaca gtgatttagc caaataagtc ttaaccaaaa aaaggaatct
     2401 gaaaaacata catgacttat aaattcatag attattagtt gtggaaagag tctcatagat
     2461 catagtccaa tcccctagac ccaaaggccc agacacgcag ggttctctat ttctcttctt
     2521 ttttctcttt ctttttttct ttagccataa agaaaggaga tggatcacct aatgcctgaa
     2581 agatcccctc cttcctaacg tttttgtttg aggctttcta accatctcat tcctactttt
     2641 ataactatta ttgttattat cacttcctga ttcttaagct tcatcagcac cagaacactt
     2701 aattctcttc aatttccttt tttacttttc tctcttttcc ttttattctg tcatcctttt
     2761 tttcccttcc cttctccctg gttgtgctgc ttttctagta atctgtccca tttttcaggt
     2821 tataatattt cctcttgcca aatctgttgc ttatgtcttg ccatgaattt caaaatataa
     2881 gacattggca aagcctccta cagaatcatc aaaggtgtca acaaatccag cctgataccc
     2941 ttccagtctc acttccagtg gaaggcatat aggagtgatg gttccccccg tgcccttgca
     3001 gccattgaca tttctttctg cttccactat ttggtgttgg gcactggaga aaaacgaagc
     3061 caagagaata tgaaatttgc atagccaaat gctatggaac caaagaataa gatgactcac
     3121 atctgtttaa cttgaactct tatgcaaaaa tcctaatcgt gtcgcaacac gggaccagtt
     3181 actgtgtcta tcgggtcatt tgggaatggg caggatactg gagctgggag gctaatgggg
     3241 tccagagctg cataatgggg atcggatgtt ggtactcctc ccagggagct ctcaggacag
     3301 ctgtttgtcg tgggctccca agtgcctagg ccatgcctta cgactgctgc acttaccatt
     3361 tgtcatatga tggcacttga ctacatatgg ctttagaaat aaaataaccc tcaaaacta
//
