LOCUS       NM_001354604            4799 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens melanocyte inducing transcription factor (MITF),
            transcript variant 9, mRNA.
ACCESSION   NM_001354604 XM_005264754
VERSION     NM_001354604.2
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 4799)
  AUTHORS   Vu,H.N., Valdimarsson,M.M., Sigurbjornsdottir,S.,
            Bergsteinsdottir,K., Debbache,J., Bismuth,K., Swing,D.A.,
            Hallsson,J.H., Larue,L., Arnheiter,H., Copeland,N.G., Jenkins,N.A.,
            Heidarsson,P.O. and Steingrimsson,E.
  TITLE     Novel mechanisms of MITF regulation identified in a mouse
            suppressor screen
  JOURNAL   EMBO Rep 25 (10), 4252-4280 (2024)
   PUBMED   39169200
  REMARK    GeneRIF: Novel mechanisms of MITF regulation identified in a mouse
            suppressor screen.
REFERENCE   2  (bases 1 to 4799)
  AUTHORS   Zhang,Y., Hu,Y., Lei,L., Jiang,L., Fu,C., Chen,M., Wu,S., Duan,X.,
            Chen,J. and Zeng,Q.
  TITLE     UVB-induced TRPS1 regulates MITF transcription activity to promote
            skin pigmentation
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (7), 167445 (2024)
   PUBMED   39074626
  REMARK    GeneRIF: UVB-induced TRPS1 regulates MITF transcription activity to
            promote skin pigmentation.
REFERENCE   3  (bases 1 to 4799)
  AUTHORS   Wang,Y., Radfar,S., Liu,S., Riker,A.I. and Khong,H.T.
  TITLE     Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of
            microphthalmia-associated transcription factor-M, as a candidate
            biomarker for melanoma
  JOURNAL   BMC Med 8, 14 (2010)
   PUBMED   20163701
  REMARK    GeneRIF: A novel splice variant of MITF-M,named MITF-Mdel, was id'd
            and contains two in frame deletions. MITF-Mdel was widely expressed
            in melanocytes, melanoma cell lines and tissues, but almost
            undetectable in non-melanoma cell lines or PBMC from healthy
            donors.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4799)
  AUTHORS   Shiohara,M., Shigemura,T., Suzuki,T., Tanaka,M., Morii,E.,
            Ohtsu,H., Shibahara,S. and Koike,K.
  TITLE     MITF-CM, a newly identified isoform of microphthalmia-associated
            transcription factor, is expressed in cultured mast cells
  JOURNAL   Int J Lab Hematol 31 (2), 215-226 (2009)
   PUBMED   18284417
  REMARK    GeneRIF: a novel MITF isoform, MITF-CM, which possesses a unique
            amino terminus was identified.
REFERENCE   5  (bases 1 to 4799)
  AUTHORS   Hershey,C.L. and Fisher,D.E.
  TITLE     Genomic analysis of the Microphthalmia locus and identification of
            the MITF-J/Mitf-J isoform
  JOURNAL   Gene 347 (1), 73-82 (2005)
   PUBMED   15715979
  REMARK    GeneRIF: The majority of isoforms were found to be broadly
            expressed, with the M- and Mc-isoforms being tissue-restricted to
            melanocytes and mast cells, respectively.
REFERENCE   6  (bases 1 to 4799)
  AUTHORS   Udono,T., Yasumoto,K., Takeda,K., Amae,S., Watanabe,K., Saito,H.,
            Fuse,N., Tachibana,M., Takahashi,K., Tamai,M. and Shibahara,S.
  TITLE     Structural organization of the human microphthalmia-associated
            transcription factor gene containing four alternative promoters
  JOURNAL   Biochim Biophys Acta 1491 (1-3), 205-219 (2000)
   PUBMED   10760582
REFERENCE   7  (bases 1 to 4799)
  AUTHORS   Fuse,N., Yasumoto,Ki., Takeda,K., Amae,S., Yoshizawa,M., Udono,T.,
            Takahashi,K., Tamai,M., Tomita,Y., Tachibana,M. and Shibahara,S.
  TITLE     Molecular cloning of cDNA encoding a novel
            microphthalmia-associated transcription factor isoform with a
            distinct amino-terminus
  JOURNAL   J Biochem 126 (6), 1043-1051 (1999)
   PUBMED   10578055
REFERENCE   8  (bases 1 to 4799)
  AUTHORS   Amae,S., Fuse,N., Yasumoto,K., Sato,S., Yajima,I., Yamamoto,H.,
            Udono,T., Durlu,Y.K., Tamai,M., Takahashi,K. and Shibahara,S.
  TITLE     Identification of a novel isoform of microphthalmia-associated
            transcription factor that is enriched in retinal pigment epithelium
  JOURNAL   Biochem Biophys Res Commun 247 (3), 710-715 (1998)
   PUBMED   9647758
REFERENCE   9  (bases 1 to 4799)
  AUTHORS   Tachibana,M., Perez-Jurado,L.A., Nakayama,A., Hodgkinson,C.A.,
            Li,X., Schneider,M., Miki,T., Fex,J., Francke,U. and Arnheiter,H.
  TITLE     Cloning of MITF, the human homolog of the mouse microphthalmia gene
            and assignment to chromosome 3p14.1-p12.3
  JOURNAL   Hum Mol Genet 3 (4), 553-557 (1994)
   PUBMED   8069297
REFERENCE   10 (bases 1 to 4799)
  AUTHORS   Bard,L.A.
  TITLE     Heterogeneity in Waardenburg's syndrome. Report of a family with
            ocular albinism
  JOURNAL   Arch Ophthalmol 96 (7), 1193-1198 (1978)
   PUBMED   666627
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104445.2, AC099326.1 and
            AC104449.3.
            
            On Jun 2, 2019 this sequence version replaced NM_001354604.1.
            
            Summary: The protein encoded by this gene is a transcription factor
            that contains both basic helix-loop-helix and leucine zipper
            structural features. The encoded protein regulates melanocyte
            development and is responsible for pigment cell-specific
            transcription of the melanogenesis enzyme genes. Heterozygous
            mutations in the this gene cause auditory-pigmentary syndromes,
            such as Waardenburg syndrome type 2 and Tietz syndrome. [provided
            by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803614.184601.1,
                                           SRR1660805.188790.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000352241.9/ ENSP00000295600.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-238               AC104445.2         169483-169720
            239-488             AC099326.1         107814-108063
            489-716             AC104449.3         75681-75908
            717-800             AC104449.3         76957-77040
            801-896             AC104449.3         79095-79190
            897-1014            AC104449.3         86910-87027
            1015-1089           AC104449.3         89671-89745
            1090-1165           AC104449.3         94314-94389
            1166-1313           AC104449.3         97132-97279
            1314-4799           AC104449.3         102706-106191
FEATURES             Location/Qualifiers
     source          1..4799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p13"
     gene            1..4799
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="melanocyte inducing transcription factor"
                     /db_xref="GeneID:4286"
                     /db_xref="HGNC:HGNC:7105"
                     /db_xref="MIM:156845"
     exon            1..238
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..1715
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="isoform 9 is encoded by transcript variant 9;
                     microphthalmia-associated transcription factor; class E
                     basic helix-loop-helix protein 32;
                     microphtalmia-associated transcription factor;
                     melanogenesis associated transcription factor"
                     /codon_start=1
                     /product="microphthalmia-associated transcription factor
                     isoform 9"
                     /protein_id="NP_001341533.1"
                     /db_xref="CCDS:CCDS87108.1"
                     /db_xref="GeneID:4286"
                     /db_xref="HGNC:HGNC:7105"
                     /db_xref="MIM:156845"
                     /translation="MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGAS
                     KPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSV
                     PTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPC
                     PNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRA
                     SCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLT
                     ISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKEL
                     GTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRI
                     QELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDL
                     TDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGAS
                     KTSSRRSSMSMEETEHTC"
     exon            239..488
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            489..716
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            717..800
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            801..896
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1014
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1089
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1165
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1313
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..4799
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4779..4784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="hexamer: ATTAAA"
     polyA_site      4799
                     /gene="MITF"
                     /gene_synonym="bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2;
                     WS2A"
                     /note="major polyA site"
ORIGIN      
        1 gcgagccggc gagcgggcag agctcggcac tgcgccgggg cgcacggctc gggggaccca
       61 ggcccagcta ccttccctcc gcccccgggc tctgttctca ctttccagca gtggaaggac
      121 gggaagcggg agccatgcag tccgaatcgg ggatcgtgcc ggatttcgaa gtcggggagg
      181 agtttcatga agagcccaaa acctattacg aactcaaaag tcaaccgctg aagagcagca
      241 gttccgccga gcatcctggg gcctccaagc ctccgataag ctcctccagt atgacatcac
      301 gcatcttgct acgccagcaa ctcatgcgtg agcagatgca ggagcaggag cgcagggagc
      361 agcagcagaa gctgcaggcg gcccagttca tgcaacagag agtgcccgtg agtcagacac
      421 cagccataaa cgtcagtgtg cccaccaccc ttccctctgc cacgcaggtg ccgatggaag
      481 tccttaaggt gcagacccac ctcgaaaacc ccaccaagta ccacatacag caagcccaac
      541 ggcagcaggt aaagcagtac ctttctacca ctttagcaaa taaacatgcc aaccaagtcc
      601 tgagcttgcc atgtccaaac cagcctggcg atcatgtcat gccaccggtg ccggggagca
      661 gcgcacccaa cagccccatg gctatgctta cgcttaactc caactgtgaa aaagagggat
      721 tttataagtt tgaagagcaa aacagggcag agagcgagtg cccaggcatg aacacacatt
      781 cacgagcgtc ctgtatgcag atggatgatg taatcgatga catcattagc ctagaatcaa
      841 gttataatga ggaaatcttg ggcttgatgg atcctgcttt gcaaatggca aatacgttgc
      901 ctgtctcggg aaacttgatt gatctttatg gaaaccaagg tctgccccca ccaggcctca
      961 ccatcagcaa ctcctgtcca gccaaccttc ccaacataaa aagggagctc acagcgtgta
     1021 tttttcccac agagtctgaa gcaagagcac tggccaaaga gaggcagaaa aaggacaatc
     1081 acaacctgat tgaacgaaga agaagattta acataaatga ccgcattaaa gaactaggta
     1141 ctttgattcc caagtcaaat gatccagaca tgcgctggaa caagggaacc atcttaaaag
     1201 catccgtgga ctatatccga aagttgcaac gagaacagca acgcgcaaaa gaacttgaaa
     1261 accgacagaa gaaactggag cacgccaacc ggcatttgtt gctcagaata caggaacttg
     1321 aaatgcaggc tcgagctcat ggactttccc ttattccatc cacgggtctc tgctctccag
     1381 atttggtgaa tcggatcatc aagcaagaac ccgttcttga gaactgcagc caagacctcc
     1441 ttcagcatca tgcagaccta acctgtacaa caactctcga tctcacggat ggcaccatca
     1501 ccttcaacaa caacctcgga actgggactg aggccaacca agcctatagt gtccccacaa
     1561 aaatgggatc caaactggaa gacatcctga tggacgacac cctttctccc gtcggtgtca
     1621 ctgatccact cctttcctca gtgtcccccg gagcttccaa aacaagcagc cggaggagca
     1681 gtatgagcat ggaagagacg gagcacactt gttagcgaat cctccctgca ctgcattcgc
     1741 acaaactgct tcctttcttg attcgtagat ttaataactt acctgaaggg gttttcttga
     1801 taattttcct ttaatatgaa attttttttc atgctttatc aatagcccag gatatatttt
     1861 atttttagaa ttttgtgaaa cagacttgta tattctattt tacaactaca aatgcctcca
     1921 aagtattgta caaataagtg tgcagtatct gtgaactgaa ttcaccacag actttagctt
     1981 tctgagcaag aggattttgc gtcagagaaa tgtctgtcca tttttattca ggggaaactt
     2041 gatttgagat ttttatgcct gtgacttcct tggaaatcaa atgtaaagtt taattgaaag
     2101 aatgtaaagc aaccaaaaag aaaaaaaaaa agaaagaaag aggaaaagaa atccatacta
     2161 acccttttcc attttataaa tgtattgatt cattggtact gccttaaaga tacagtaccc
     2221 ctctagcttt gtttagtctt tatactgcaa actatttaaa gaaatatgta ttctgtaaaa
     2281 gaaaaaaaaa atgcggcctt ttcatgagga tcgtctggtt agaaaacata actgatacca
     2341 accgaaactg aagggagtta gaccaaggct ctgaaatata aagtctaatc ttgctctctt
     2401 ttattctgtg ctgttacagt tttcttcatc aatgagtgtg atccagtttt tcataagata
     2461 ttttattttg aaatggaaat taatgtcctc tcaaagtaaa atattgagga gcactgaaag
     2521 tatgttttac ttttttttta ttttattttt gcttttgata agaaaaccga actgggcata
     2581 tttctaattg gctttactat ttttattttt aaattatgtt ttactgttca tttgatttgt
     2641 acagattctt tattatcatt gttcttttca atatatttgt attaatttgt aagaatatgc
     2701 atcttaaaat ggcaagtttt ccatattttt acaactcact ggtggttttc cgcattcttt
     2761 gtacacccat gaaagaaaac ttttatgcaa ggtcttgcat ttaaaagaca gctttgcgaa
     2821 tattttgtaa attacagtct cactcagaac tgtttttgga cacatttaag gtgtagtatt
     2881 aataggttaa aaccaggctt tctagaaaga ataaacttac atatttattt ttaggacatg
     2941 aaaatagcaa tattcttgga gattgataac catagcatta atacgcccat tatggtcatt
     3001 taaattgggg tttatttcag caaacttgtt gaatttattt ttaagaaaga aatactgtat
     3061 tgggaagtta ctgttacttg ataacaatgt tttaacaaga agcaatgtta taaagttagt
     3121 ttcagtgcat tatctacttg tgtagtccta tgcaataaca gtagtgttac atgtatcaag
     3181 cctagatgtt ttatacagat gccatatagt gttatgagcc aggctgttga atggaatttc
     3241 tcagtagcag cctacaactg aatagcaagt ggcataaagc atatccattc agaatgaagt
     3301 gccttaaata tagcagtagt cttttttgga ctagcactga ctgaactgta atgtagggga
     3361 aagtttcatg atggtatcta tagtcaagac gaacatgtag catggtgcct atgtagacaa
     3421 tataagagct tccaattttc cttcagatat ttttaatatt aaatatattt tagtgacaga
     3481 gtgccaactt ctttcatcag gaaaccttat tcaggagggt ttttaaaaag tgtttaaatg
     3541 tcaaatgtga attggtgatg ggtgatggag ggttcagaga ggagtgatcg tcagatgtgt
     3601 gaatggacgg tttaggtgaa aataatcaac tgcatagttc ccatgcacgc tgggcaatga
     3661 gaatccttgg aaacattggt gatgctatca gttttatagc tttatttctt aagggggtag
     3721 ggaaaattag ttcccattct ttcaaccccc ttaactgtat agctcttttc ctagaatagt
     3781 gacgcaaatc tgcatgaaca gctaattgta ccatagtgtt cattgataca atcatagcat
     3841 tgtctatttt tctcttcata tttatatggg ggggagggcg ctggatgcaa aagttgaaga
     3901 tcgtgatgct atgatgttag ttttccttag ctgattttga gggtttttaa aaataaagca
     3961 aggttgacta acctacggcc acgggaacag gaccatggtt aagcaaccat atagaaagct
     4021 ttgttgaaag aaagtatggc atcttgtacc actgccctga ctgtcacaac tcctaacctt
     4081 gccattgcct gcctccccct ccccttctcc ttaagagaca atttctgcag gtggcaggtg
     4141 agcaagccca ggagaatgct gcaatcttgg gggtggtttt atttatttct tttttgccaa
     4201 atagagtgtg gattcatttc aggggctagc taagccaaga ggcagtggtt tgggcttgtt
     4261 gtttgtaaca agaaaatgat ccacaccact cccccgattc ccgggtgcag aattgtaact
     4321 cggggttggg cctctatatg gagtgaccaa aatgccaaaa ttgtccatct gcctctgagt
     4381 agggcaatgg aaataccaaa ccttctgact ttgccaaaaa gcatacaagc aacctggtca
     4441 tacataggat gacaaaattc tttctggttg tttttaaaca ataaagcaat aagaacaaat
     4501 acaatacata ggaagttaaa agcacaaagg aatgaactta ttaatatttt tgaaaaatgc
     4561 actgggaaaa agttgatgtc aataacagta taaaacagcc ctatttcttg ataaaaaatg
     4621 acaaatgact gtctcttgcg gatgcttggt actgtaatgt taataatagt cacctgctgt
     4681 tggatgcagc aataatttct gtatggtcca tagcactgta tattatggat cgatattaat
     4741 gtatccaatg aaataatcga cttgttcttg atagcctcat taaagcattt ggtttttca
//
