LOCUS       NM_018486               1754 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1,
            mRNA.
ACCESSION   NM_018486
VERSION     NM_018486.3
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 1754)
  AUTHORS   Sang,C., Li,X., Liu,J., Chen,Z., Xia,M., Yu,M. and Yu,W.
  TITLE     Reversible acetylation of HDAC8 regulates cell cycle
  JOURNAL   EMBO Rep 25 (9), 3925-3943 (2024)
   PUBMED   39043961
  REMARK    GeneRIF: Reversible acetylation of HDAC8 regulates cell cycle.
REFERENCE   2  (bases 1 to 1754)
  AUTHORS   Wang,L., Bai,X., Zhang,X., Wang,X., Chen,S., Wu,S. and Lin,L.
  TITLE     Activation of HDAC8 Can Suppress the Proliferation of Osteosarcoma
            Cells via TP53 and STAT3/ERK Signaling Pathways
  JOURNAL   Ann Clin Lab Sci 53 (6), 920-930 (2023)
   PUBMED   38182151
  REMARK    GeneRIF: Activation of HDAC8 Can Suppress the Proliferation of
            Osteosarcoma Cells via TP53 and STAT3/ERK Signaling Pathways.
REFERENCE   3  (bases 1 to 1754)
  AUTHORS   Vannini,A., Volpari,C., Filocamo,G., Casavola,E.C., Brunetti,M.,
            Renzoni,D., Chakravarty,P., Paolini,C., De Francesco,R.,
            Gallinari,P., Steinkuhler,C. and Di Marco,S.
  TITLE     Crystal structure of a eukaryotic zinc-dependent histone
            deacetylase, human HDAC8, complexed with a hydroxamic acid
            inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 101 (42), 15064-15069 (2004)
   PUBMED   15477595
  REMARK    GeneRIF: crystal structure
REFERENCE   4  (bases 1 to 1754)
  AUTHORS   Buggy,J.J., Sideris,M.L., Mak,P., Lorimer,D.D., McIntosh,B. and
            Clark,J.M.
  TITLE     Cloning and characterization of a novel human histone deacetylase,
            HDAC8
  JOURNAL   Biochem J 350 Pt 1 (Pt 1), 199-205 (2000)
   PUBMED   10926844
REFERENCE   5  (bases 1 to 1754)
  AUTHORS   Van den Wyngaert,I., de Vries,W., Kremer,A., Neefs,J.,
            Verhasselt,P., Luyten,W.H. and Kass,S.U.
  TITLE     Cloning and characterization of human histone deacetylase 8
  JOURNAL   FEBS Lett 478 (1-2), 77-83 (2000)
   PUBMED   10922473
REFERENCE   6  (bases 1 to 1754)
  AUTHORS   Hu,E., Chen,Z., Fredrickson,T., Zhu,Y., Kirkpatrick,R., Zhang,G.F.,
            Johanson,K., Sung,C.M., Liu,R. and Winkler,J.
  TITLE     Cloning and characterization of a novel human class I histone
            deacetylase that functions as a transcription repressor
  JOURNAL   J Biol Chem 275 (20), 15254-15264 (2000)
   PUBMED   10748112
REFERENCE   7  (bases 1 to 1754)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   8  (bases 1 to 1754)
  AUTHORS   Deardorff,M.A., Noon,S.E. and Krantz,I.D.
  TITLE     Cornelia de Lange Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301283
REFERENCE   9  (bases 1 to 1754)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (bases 1 to 1754)
  AUTHORS   Wilson,M., Mulley,J., Gedeon,A., Robinson,H. and Turner,G.
  TITLE     New X-linked syndrome of mental retardation, gynecomastia, and
            obesity is linked to DXS255
  JOURNAL   Am J Med Genet 40 (4), 406-413 (1991)
   PUBMED   1746601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP229332.1, AJ277724.1 and
            BC050433.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_018486.2.
            
            Summary: Histones play a critical role in transcriptional
            regulation, cell cycle progression, and developmental events.
            Histone acetylation/deacetylation alters chromosome structure and
            affects transcription factor access to DNA. The protein encoded by
            this gene belongs to class I of the histone deacetylase family. It
            catalyzes the deacetylation of lysine residues in the histone
            N-terminal tails and represses transcription in large multiprotein
            complexes with transcriptional co-repressors. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: A downstream translational start codon is selected
            for this RefSeq based on a strong Kozak signal and transcript
            support. An upstream in-frame start codon is also present but has a
            weaker Kozak signal and sparse transcript support. Use of the
            upstream start codon would result in a protein that is 38 aa longer
            at the N-terminus. Leaky scanning by ribosomes may allow
            translation initiation at the downstream start codon, which is
            supported by 5'RACE experiments described in PubMed: 10922473 and
            encodes a protein with an N-terminus similar to other family
            members.
            
            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 :: AJ277724.1, BC050433.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373573.9/ ENSP00000362674.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                BP229332.1         237-276
            41-241              AJ277724.1         1-201
            242-1754            BC050433.1         193-1705
FEATURES             Location/Qualifiers
     source          1..1754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1754
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /note="histone deacetylase 8"
                     /db_xref="GeneID:55869"
                     /db_xref="HGNC:HGNC:13315"
                     /db_xref="MIM:300269"
     exon            1..193
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1216
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /EC_number="3.5.1.98"
                     /note="isoform 1 is encoded by transcript variant 1;
                     histone deacetylase-like 1; protein deacetylase HDAC8;
                     protein decrotonylase HDAC8"
                     /codon_start=1
                     /product="histone deacetylase 8 isoform 1"
                     /protein_id="NP_060956.1"
                     /db_xref="CCDS:CCDS14420.1"
                     /db_xref="GeneID:55869"
                     /db_xref="HGNC:HGNC:13315"
                     /db_xref="MIM:300269"
                     /translation="MEEPEEPADSGQSLVPVYIYSPEYVSMCDSLAKIPKRASMVHSL
                     IEAYALHKQMRIVKPKVASMEEMATFHTDAYLQHLQKVSQEGDDDHPDSIEYGLGYDC
                     PATEGIFDYAAAIGGATITAAQCLIDGMCKVAINWSGGWHHAKKDEASGFCYLNDAVL
                     GILRLRRKFERILYVDLDLHHGDGVEDAFSFTSKVMTVSLHKFSPGFFPGTGDVSDVG
                     LGKGRYYSVNVPIQDGIQDEKYYQICESVLKEVYQAFNPKAVVLQLGADTIAGDPMCS
                     FNMTPVGIGKCLKYILQWQLATLILGGGGYNLANTARCWTYLTGVILGKTLSSEIPDH
                     EFFTAYGPDYVLEITPSCRPDRNEPHRIQQILNYIKGNLKHVV"
     exon            194..246
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            247..377
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            378..519
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            520..632
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            633..710
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            711..819
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            820..992
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1087
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1193
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1754
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1734..1739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /note="hexamer: AATAAA"
     polyA_site      1754
                     /gene="HDAC8"
                     /gene_synonym="CDA07; CDLS5; HD8; HDACL1; KDAC8; MRXS6;
                     RPD3; WTS"
                     /note="major polyA site"
ORIGIN      
        1 agaggagcag gaactggaac cctggccgag tccgaaaaaa gccagatctg gaaggtggct
       61 gcggaacggt tttaagcgga agatggagga gccggaggaa ccggcggaca gtgggcagtc
      121 gctggtcccg gtttatatct atagtcccga gtatgtcagt atgtgtgact ccctggccaa
      181 gatccccaaa cgggccagta tggtgcattc tttgattgaa gcatatgcac tgcataagca
      241 gatgaggata gttaagccta aagtggcctc catggaggag atggccacct tccacactga
      301 tgcttatctg cagcatctcc agaaggtcag ccaagagggc gatgatgatc atccggactc
      361 catagaatat gggctaggtt atgactgccc agccactgaa gggatatttg actatgcagc
      421 agctatagga ggggctacga tcacagctgc ccaatgcctg attgacggaa tgtgcaaagt
      481 agcaattaac tggtctggag ggtggcatca tgcaaagaaa gatgaagcat ctggtttttg
      541 ttatctcaat gatgctgtcc tgggaatatt acgattgcga cggaaatttg agcgtattct
      601 ctacgtggat ttggatctgc accatggaga tggtgtagaa gacgcattca gtttcacctc
      661 caaagtcatg accgtgtccc tgcacaaatt ctccccagga tttttcccag gaacaggtga
      721 cgtgtctgat gttggcctag ggaagggacg gtactacagt gtaaatgtgc ccattcagga
      781 tggcatacaa gatgaaaaat attaccagat ctgtgaaagt gtactaaagg aagtatacca
      841 agcctttaat cccaaagcag tggtcttaca gctgggagct gacacaatag ctggggatcc
      901 catgtgctcc tttaacatga ctccagtggg aattggcaag tgtcttaagt acatccttca
      961 atggcagttg gcaacactca ttttgggagg aggaggctat aaccttgcca acacggctcg
     1021 atgctggaca tacttgaccg gggtcatcct agggaaaaca ctatcctctg agatcccaga
     1081 tcatgagttt ttcacagcat atggtcctga ttatgtgctg gaaatcacgc caagctgccg
     1141 gccagaccgc aatgagcccc accgaatcca acaaatcctc aactacatca aagggaatct
     1201 gaagcatgtg gtctagttga cagaaagaga tcaggtttcc agagctgagg agtggtgcct
     1261 ataatgaaga cagcgtgttt atgcaagcag tttgtggaat ttgtgactgc agggaaaatt
     1321 tgaaagaaat tacttcctga aaatttccaa ggggcatcaa gtggcagctg gcttcctggg
     1381 gtgaagaggc aggcacccca gagtcctcaa ctggacctag gggaagaagg agatatccca
     1441 catttaaagt tcttatttaa aaaaacacac acacacaaat gaaattttta atctttgaaa
     1501 attattttta agcgaattgg ggaggggagt attttaatca tcttaaatga aacagatcag
     1561 aagctggatg agagcagtca ccagtttgta gggcaggagg cagctgacag gcagggtttg
     1621 ggcctcagga ccatccaggt ggagccctgg gagagagggt actgatcagc agactgggag
     1681 gtggggagaa gtccgctggt gttgttttag tgttatatat ctttggtttt tttaataaaa
     1741 tctttgaaaa ccta
//
