LOCUS       NM_004183               2210 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens bestrophin 1 (BEST1), transcript variant 1, mRNA.
ACCESSION   NM_004183
VERSION     NM_004183.4
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 2210)
  AUTHORS   Wang,J., Owji,A.P., Kittredge,A., Clark,Z., Zhang,Y. and Yang,T.
  TITLE     GAD65 tunes the functions of Best1 as a GABA receptor and a
            neurotransmitter conducting channel
  JOURNAL   Nat Commun 15 (1), 8051 (2024)
   PUBMED   39277606
  REMARK    GeneRIF: GAD65 tunes the functions of Best1 as a GABA receptor and
            a neurotransmitter conducting channel.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2210)
  AUTHORS   Bianco,L., Arrigo,A., Antropoli,A., Del Fabbro,S., Mauro,L.,
            Pina,A., Bandello,F. and Battaglia Parodi,M.
  TITLE     The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant
  JOURNAL   Ophthalmol Retina 8 (3), 288-297 (2024)
   PUBMED   37717827
  REMARK    GeneRIF: The Retinal Phenotype Associated with the p.Pro101Thr
            BEST1 Variant.
REFERENCE   3  (bases 1 to 2210)
  AUTHORS   Shi,J., Tian,L., Sun,T., Zhang,X., Xu,K., Xie,Y., Peng,X., Tang,X.,
            Jin,Z.B. and Li,Y.
  TITLE     Comprehensive Genetic Analysis Unraveled the Missing Heritability
            and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal
            Recessive Bestrophinopathy
  JOURNAL   Invest Ophthalmol Vis Sci 64 (12), 37 (2023)
   PUBMED   37747403
  REMARK    GeneRIF: Comprehensive Genetic Analysis Unraveled the Missing
            Heritability and a Founder Variant of BEST1 in a Chinese Cohort
            With Autosomal Recessive Bestrophinopathy.
REFERENCE   4  (bases 1 to 2210)
  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
REFERENCE   5  (bases 1 to 2210)
  AUTHORS   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., McGarty-Dugan,V., Figueroa,D., Austin,C.P.,
            Metzker,M.L., Caskey,C.T. and Wadelius,C.
  TITLE     Identification of the gene responsible for Best macular dystrophy
  JOURNAL   Nat Genet 19 (3), 241-247 (1998)
   PUBMED   9662395
REFERENCE   6  (bases 1 to 2210)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 2210)
  AUTHORS   MacDonald,I.M., Lee,T. and Lawrence,J.
  TITLE     Bestrophinopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301346
REFERENCE   8  (bases 1 to 2210)
  AUTHORS   Forsman,K., Graff,C., Nordstrom,S., Johansson,K., Westermark,E.,
            Lundgren,E., Gustavson,K.H., Wadelius,C. and Holmgren,G.
  TITLE     The gene for Best's macular dystrophy is located at 11q13 in a
            Swedish family
  JOURNAL   Clin Genet 42 (3), 156-159 (1992)
   PUBMED   1395087
REFERENCE   9  (bases 1 to 2210)
  AUTHORS   Stone,E.M., Nichols,B.E., Streb,L.M., Kimura,A.E. and
            Sheffield,V.C.
  TITLE     Genetic linkage of vitelliform macular degeneration (Best's
            disease) to chromosome 11q13
  JOURNAL   Nat Genet 1 (4), 246-250 (1992)
   PUBMED   1302019
REFERENCE   10 (bases 1 to 2210)
  AUTHORS   Nordstrom,S. and Barkman,Y.
  TITLE     Hereditary maculardegeneration (HMD) in 246 cases traced to one
            gene-source in central Sweden
  JOURNAL   Hereditas 84 (2), 163-176 (1977)
   PUBMED   838599
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015220.2 and AF057169.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004183.3.
            
            Summary: This gene encodes a member of the bestrophin gene family.
            This small gene family is characterized by proteins with a highly
            conserved N-terminus with four to six transmembrane domains.
            Bestrophins may form chloride ion channels or may regulate
            voltage-gated L-type calcium-ion channels. Bestrophins are
            generally believed to form calcium-activated chloride-ion channels
            in epithelial cells but they have also been shown to be highly
            permeable to bicarbonate ion transport in retinal tissue. Mutations
            in this gene are responsible for juvenile-onset vitelliform macular
            dystrophy (VMD2), also known as Best macular dystrophy, in addition
            to adult-onset vitelliform macular dystrophy (AVMD) and other
            retinopathies. Alternative splicing results in multiple variants
            encoding distinct isoforms.[provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence and in the 3' UTR and coding sequence compared to
            variant 2. The resulting isoform (1) is longer at the N-terminus
            and has a shorter and distinct C-terminus compared to isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF057169.1, SRR1803614.72816.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378043.9/ ENSP00000367282.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BC015220.2         468-476
            10-1975             AF057169.1         1-1966
            1976-2210           BC015220.2         2174-2408
FEATURES             Location/Qualifiers
     source          1..2210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..2210
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /note="bestrophin 1"
                     /db_xref="GeneID:7439"
                     /db_xref="HGNC:HGNC:12703"
                     /db_xref="MIM:607854"
     exon            1..77
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            78..265
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1871
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /note="isoform 1 is encoded by transcript variant 1; Best
                     disease; vitelliform macular dystrophy protein 2"
                     /codon_start=1
                     /product="bestrophin-1 isoform 1"
                     /protein_id="NP_004174.1"
                     /db_xref="CCDS:CCDS31580.1"
                     /db_xref="GeneID:7439"
                     /db_xref="HGNC:HGNC:12703"
                     /db_xref="MIM:607854"
                     /translation="MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYY
                     IIRFIYRLALTEEQQLMFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPW
                     PDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQA
                     GFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLR
                     TQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVF
                     TFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEP
                     DMYWNKPEPQPPYTAASAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGR
                     FLGLQSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAV
                     DAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSG
                     AKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTT
                     LKDHMDPYWALENRDEAHS"
     exon            266..360
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            361..594
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            595..749
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            750..827
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            828..980
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1061
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1213
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1852
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..2210
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2015..2020
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /note="hexamer: GATAAA"
     polyA_site      2032
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
     regulatory      2191..2196
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /note="hexamer: AATAAA"
     polyA_site      2210
                     /gene="BEST1"
                     /gene_synonym="ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B;
                     VMD2"
                     /note="major polyA site"
ORIGIN      
        1 acagagtccc agggagtccc accagcctag tcgccagacc ttctgtggga tcatcggacc
       61 cacctggaac cccacctgac ccaagcccac ctgctgcagc ccactgcctg gccatgacca
      121 tcacttacac aagccaagtg gctaatgccc gcttaggctc cttctcccgc ctgctgctgt
      181 gctggcgggg cagcatctac aagctgctat atggcgagtt cttaatcttc ctgctctgct
      241 actacatcat ccgctttatt tataggctgg ccctcacgga agaacaacag ctgatgtttg
      301 agaaactgac tctgtattgc gacagctaca tccagctcat ccccatttcc ttcgtgctgg
      361 gcttctacgt gacgctggtc gtgacccgct ggtggaacca gtacgagaac ctgccgtggc
      421 ccgaccgcct catgagcctg gtgtcgggct tcgtcgaagg caaggacgag caaggccggc
      481 tgctgcggcg cacgctcatc cgctacgcca acctgggcaa cgtgctcatc ctgcgcagcg
      541 tcagcaccgc agtctacaag cgcttcccca gcgcccagca cctggtgcaa gcaggcttta
      601 tgactccggc agaacacaag cagttggaga aactgagcct accacacaac atgttctggg
      661 tgccctgggt gtggtttgcc aacctgtcaa tgaaggcgtg gcttggaggt cgaatccggg
      721 accctatcct gctccagagc ctgctgaacg agatgaacac cttgcgtact cagtgtggac
      781 acctgtatgc ctacgactgg attagtatcc cactggtgta tacacaggtg gtgactgtgg
      841 cggtgtacag cttcttcctg acttgtctag ttgggcggca gtttctgaac ccagccaagg
      901 cctaccctgg ccatgagctg gacctcgttg tgcccgtctt cacgttcctg cagttcttct
      961 tctatgttgg ctggctgaag gtggcagagc agctcatcaa cccctttgga gaggatgatg
     1021 atgattttga gaccaactgg attgtcgaca ggaatttgca ggtgtccctg ttggctgtgg
     1081 atgagatgca ccaggacctg cctcggatgg agccggacat gtactggaat aagcccgagc
     1141 cacagccccc ctacacagct gcttccgccc agttccgtcg agcctccttt atgggctcca
     1201 ccttcaacat cagcctgaac aaagaggaga tggagttcca gcccaatcag gaggacgagg
     1261 aggatgctca cgctggcatc attggccgct tcctaggcct gcagtcccat gatcaccatc
     1321 ctcccagggc aaactcaagg accaaactac tgtggcccaa gagggaatcc cttctccacg
     1381 agggcctgcc caaaaaccac aaggcagcca aacagaacgt taggggccag gaagacaaca
     1441 aggcctggaa gcttaaggct gtggacgcct tcaagtctgc cccactgtat cagaggccag
     1501 gctactacag tgccccacag acgcccctca gccccactcc catgttcttc cccctagaac
     1561 catcagcgcc gtcaaagctt cacagtgtca caggcataga caccaaagac aaaagcttaa
     1621 agactgtgag ttctggggcc aagaaaagtt ttgaattgct ctcagagagc gatggggcct
     1681 tgatggagca cccagaagta tctcaagtga ggaggaaaac tgtggagttt aacctgacgg
     1741 atatgccaga gatccccgaa aatcacctca aagaaccttt ggaacaatca ccaaccaaca
     1801 tacacactac actcaaagat cacatggatc cttattgggc cttggaaaac agggatgaag
     1861 cacattccta acctgcttcc taatggggat gcttcgccag ccaggtcctc acctgtgtgt
     1921 acaccagcag gacactgatc cagtcacagc catacagctg tccacactga agaacatgtc
     1981 ctacaacagc ctgaatcaaa tggttagctt aatagataaa aatcccagac tacttcagcc
     2041 tttaatgcct tttattcata aaaactgtga aagctagact gaaccattgg aaacatttaa
     2101 ctcagactct ggattcagag tcgggaaccc ttagttctat ctgaatccaa gacagccaca
     2161 ccttagtata ctgcccaaac taatgagttt aataaataca aatactcgtt
//
