LOCUS       NM_004316               2481 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens achaete-scute family bHLH transcription factor 1
            (ASCL1), mRNA.
ACCESSION   NM_004316
VERSION     NM_004316.4
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 2481)
  AUTHORS   Zhang,H., Zong,R., Wu,H., Jiang,J., Liu,C. and Liu,S.
  TITLE     Transcription factor ASCL1 targets SLC6A13 to inhibit the
            progression of hepatocellular carcinoma via the
            glycine-inflammasome signaling
  JOURNAL   Biomol Biomed 24 (6), 1606-1619 (2024)
   PUBMED   38780447
  REMARK    GeneRIF: Transcription factor ASCL1 targets SLC6A13 to inhibit the
            progression of hepatocellular carcinoma via the
            glycine-inflammasome signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2481)
  AUTHORS   Malbos,M., Wakeling,E., Gautier,T., Boespflug-Tanguy,O., Busby,L.,
            Taylor-Miller,T., Dudoignon,B., Bokov,P., Govin,J., Grisval,M.,
            Rega,A., Mourot De Rougemont,M.G., Aubriot-Lorton,M.H.,
            Darmency,V., Bensignor,C., Houzel,A., Huet,F., Denomme-Pichon,A.S.,
            Delanne,J., Tran Mau-Them,F., Bruel,A.L., Safraou,H., Nambot,S.,
            Garde,A., Philippe,C., Duffourd,Y., Vitobello,A., Faivre,L. and
            Thauvin-Robinet,C.
  TITLE     Further description of two individuals with de novo p.(Glu127Lys)
            missense variant in the ASCL1 gene
  JOURNAL   Clin Genet 105 (5), 555-560 (2024)
   PUBMED   38287449
  REMARK    GeneRIF: Further description of two individuals with de novo
            p.(Glu127Lys) missense variant in the ASCL1 gene.
REFERENCE   3  (bases 1 to 2481)
  AUTHORS   Li,Y., Yang,X., Geng,C., Liu,Y., Tang,T., Zhang,L., Liu,F.,
            Zhang,M., Hao,J. and Ma,L.
  TITLE     Identification of molecular subtypes based on chromatin
            regulator-related genes and experimental verification of the role
            of ASCL1 in conferring chemotherapy resistance to breast cancer
  JOURNAL   Front Immunol 15, 1390261 (2024)
   PUBMED   38726001
  REMARK    GeneRIF: Identification of molecular subtypes based on chromatin
            regulator-related genes and experimental verification of the role
            of ASCL1 in conferring chemotherapy resistance to breast cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2481)
  AUTHORS   Wohlschlegel,J., Finkbeiner,C., Hoffer,D., Kierney,F., Prieve,A.,
            Murry,A.D., Haugan,A.K., Ortuno-Lizaran,I., Rieke,F., Golden,S.A.
            and Reh,T.A.
  TITLE     ASCL1 induces neurogenesis in human Muller glia
  JOURNAL   Stem Cell Reports 18 (12), 2400-2417 (2023)
   PUBMED   38039971
  REMARK    GeneRIF: ASCL1 induces neurogenesis in human Muller glia.
REFERENCE   5  (bases 1 to 2481)
  AUTHORS   Abashkin,D.A., Karpov,D.S., Kurishev,A.O., Marilovtseva,E.V. and
            Golimbet,V.E.
  TITLE     ASCL1 Is Involved in the Pathogenesis of Schizophrenia by
            Regulation of Genes Related to Cell Proliferation, Neuronal
            Signature Formation, and Neuroplasticity
  JOURNAL   Int J Mol Sci 24 (21), 15746 (2023)
   PUBMED   37958729
  REMARK    GeneRIF: ASCL1 Is Involved in the Pathogenesis of Schizophrenia by
            Regulation of Genes Related to Cell Proliferation, Neuronal
            Signature Formation, and Neuroplasticity.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2481)
  AUTHORS   Chen,H., Biel,M.A., Borges,M.W., Thiagalingam,A., Nelkin,B.D.,
            Baylin,S.B. and Ball,D.W.
  TITLE     Tissue-specific expression of human achaete-scute homologue-1 in
            neuroendocrine tumors: transcriptional regulation by dual
            inhibitory regions
  JOURNAL   Cell Growth Differ 8 (6), 677-686 (1997)
   PUBMED   9186001
REFERENCE   7  (bases 1 to 2481)
  AUTHORS   Borges,M., Linnoila,R.I., van de Velde,H.J., Chen,H., Nelkin,B.D.,
            Mabry,M., Baylin,S.B. and Ball,D.W.
  TITLE     An achaete-scute homologue essential for neuroendocrine
            differentiation in the lung
  JOURNAL   Nature 386 (6627), 852-855 (1997)
   PUBMED   9126746
REFERENCE   8  (bases 1 to 2481)
  AUTHORS   Mao,Z. and Nadal-Ginard,B.
  TITLE     Functional and physical interactions between mammalian
            achaete-scute homolog 1 and myocyte enhancer factor 2A
  JOURNAL   J Biol Chem 271 (24), 14371-14375 (1996)
   PUBMED   8662987
REFERENCE   9  (bases 1 to 2481)
  AUTHORS   Renault,B., Lieman,J., Ward,D., Krauter,K. and Kucherlapati,R.
  TITLE     Localization of the human achaete-scute homolog gene (ASCL1) distal
            to phenylalanine hydroxylase (PAH) and proximal to tumor rejection
            antigen (TRA1) on chromosome 12q22-q23
  JOURNAL   Genomics 30 (1), 81-83 (1995)
   PUBMED   8595908
REFERENCE   10 (bases 1 to 2481)
  AUTHORS   Ball,D.W., Azzoli,C.G., Baylin,S.B., Chi,D., Dou,S.,
            Donis-Keller,H., Cumaraswamy,A., Borges,M. and Nelkin,B.D.
  TITLE     Identification of a human achaete-scute homolog highly expressed in
            neuroendocrine tumors
  JOURNAL   Proc Natl Acad Sci U S A 90 (12), 5648-5652 (1993)
   PUBMED   8390674
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA005289.1, BC004425.1,
            CF454566.1, AC026108.29 and AW071836.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004316.3.
            
            Summary: This gene encodes a member of the basic helix-loop-helix
            (BHLH) family of transcription factors. The protein activates
            transcription by binding to the E box (5'-CANNTG-3'). Dimerization
            with other BHLH proteins is required for efficient DNA binding.
            This protein plays a role in the neuronal commitment and
            differentiation and in the generation of olfactory and autonomic
            neurons. Mutations in this gene may contribute to the congenital
            central hypoventilation syndrome (CCHS) phenotype in rare cases.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC001638.2, L08424.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266744.4/ ENSP00000266744.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DA005289.1         31-42
            13-1407             BC004425.1         1-1395
            1408-1714           CF454566.1         165-471
            1715-1727           AC026108.29        57159-57171         c
            1728-2015           CF454566.1         485-772
            2016-2384           BC004425.1         2003-2371
            2385-2481           AW071836.1         10-106              c
FEATURES             Location/Qualifiers
     source          1..2481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2"
     gene            1..2481
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="achaete-scute family bHLH transcription factor 1"
                     /db_xref="GeneID:429"
                     /db_xref="HGNC:HGNC:738"
                     /db_xref="MIM:100790"
     exon            1..1329
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             572..1282
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="achaete scute protein; ASH-1; class A basic
                     helix-loop-helix protein 46; achaete-scute complex-like 1;
                     achaete-scute complex homolog 1"
                     /codon_start=1
                     /product="achaete-scute homolog 1"
                     /protein_id="NP_004307.2"
                     /db_xref="CCDS:CCDS31886.1"
                     /db_xref="GeneID:429"
                     /db_xref="HGNC:HGNC:738"
                     /db_xref="MIM:100790"
                     /translation="MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAA
                     AAAQSAQQQQQQQQQQQQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRR
                     LNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETL
                     RSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGS
                     YDPLSPEEQELLDFTNWF"
     exon            1330..2481
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2270..2275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="hexamer: ATTAAA"
     polyA_site      2291
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="major polyA site"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="hexamer: AATAAA"
     polyA_site      2481
                     /gene="ASCL1"
                     /gene_synonym="ASH1; bHLHa46; HASH1; MASH1"
                     /note="major polyA site"
ORIGIN      
        1 agcactctct cacttctggc cagggaacgt ggaaggcgca ccgacaggga tccggccagg
       61 gagggcgagt gaaagaagga aatcagaaag gaagggagtt aacaaaataa taaaaacagc
      121 ctgagccacg gctggagaga ccgagacccg gcgcaagaga gcgcagcctt agtaggagag
      181 gaacgcgaga cgcggcagag cgcgttcagc actgactttt gctgctgctt ctgctttttt
      241 ttttcttaga aacaagaagg cgccagcggc agcctcacac gcgagcgcca cgcgaggctc
      301 ccgaagccaa cccgcgaagg gaggagggga gggaggagga ggcggcgtgc agggaggaga
      361 aaaagcattt tcactttttt tgctcccact ctaagaagtc tcccggggat tttgtatata
      421 ttttttaact tccgtcaggg ctcccgcttc atatttcctt ttctttccct ctctgttcct
      481 gcacccaagt tctctctgtg tccccctcgc gggccccgca cctcgcgtcc cggatcgctc
      541 tgattccgcg actccttggc cgccgctgcg catggaaagc tctgccaaga tggagagcgg
      601 cggcgccggc cagcagcccc agccgcagcc ccagcagccc ttcctgccgc ccgcagcctg
      661 tttctttgcc acggccgcag ccgcggcggc cgcagccgcc gcagcggcag cgcagagcgc
      721 gcagcagcag cagcagcagc agcagcagca gcagcaggcg ccgcagctga gaccggcggc
      781 cgacggccag ccctcagggg gcggtcacaa gtcagcgccc aagcaagtca agcgacagcg
      841 ctcgtcttcg cccgaactga tgcgctgcaa acgccggctc aacttcagcg gctttggcta
      901 cagcctgccg cagcagcagc cggccgccgt ggcgcgccgc aacgagcgcg agcgcaaccg
      961 cgtcaagttg gtcaacctgg gctttgccac ccttcgggag cacgtcccca acggcgcggc
     1021 caacaagaag atgagtaagg tggagacact gcgctcggcg gtcgagtaca tccgcgcgct
     1081 gcagcagctg ctggacgagc atgacgcggt gagcgccgcc ttccaggcag gcgtcctgtc
     1141 gcccaccatc tcccccaact actccaacga cttgaactcc atggccggct cgccggtctc
     1201 atcctactcg tcggacgagg gctcttacga cccgctcagc cccgaggagc aggagcttct
     1261 cgacttcacc aactggttct gaggggctcg gcctggtcag gccctggtgc gaatggactt
     1321 tggaagcagg gtgatcgcac aacctgcatc tttagtgctt tcttgtcagt ggcgttggga
     1381 gggggagaaa aggaaaagaa aaaaaaaaga agaagaagaa gaaaagagaa gaagaaaaaa
     1441 acgaaaacag tcaaccaacc ccatcgccaa ctaagcgagg catgcctgag agacatggct
     1501 ttcagaaaac gggaagcgct cagaacagta tctttgcact ccaatcattc acggagatat
     1561 gaagagcaac tgggacctga gtcaatgcgc aaaatgcagc ttgtgtgcaa aagcagtggg
     1621 ctcctggcag aagggagcag cacacgcgtt atagtaactc ccatcacctc taacacgcac
     1681 agctgaaagt tcttgctcgg gtcccttcac ctcctcgccc tttcttaaag tgcagttctt
     1741 agccctctag aaacgagttg gtgtctttcg tctcagtagc ccccacccca ataagctgta
     1801 gacattggtt tacagtgaaa ctatgctatt ctcagccctt tgaaactctg cttctcctcc
     1861 agggcccgat tcccaaaccc catggcttcc ctcacactgt cttttctacc attttcatta
     1921 tagaatgctt ccaatctttt gtgaattttt tattataaaa aatctatttg tatctatcct
     1981 aaccagttcg gggatatatt aagatatttt tgtacataag agagaaagag agagaaaaat
     2041 ttatagaagt tttgtacaaa tggtttaaaa tgtgtatatc ttgatacttt aacatgtaat
     2101 gctattacct ctgcatattt tagatgtgta gttcacctta caactgcaat tttccctatg
     2161 tggttttgta aagaactctc ctcataggtg agatcaagag gccaccagtt gtacttcagc
     2221 accaatgtgt cttactttat agaaatgttg ttaatgtatt aatgatgtta ttaaatactg
     2281 ttcaagaaga acaaagttta tgcagctact gtccaaactc aaagtggcag ccagttggtt
     2341 ttgataggtt gccttttgga gatttctatt actgcctttt tttttcttac tgttttatta
     2401 caaacttaca aaaatatgta taaccctgtt ttatacaaac tagtttcgta ataaaacttt
     2461 ttcctttttt taaaatgaaa a
//
