LOCUS       NM_001099403            3130 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens PR/SET domain 8 (PRDM8), transcript variant 2, mRNA.
ACCESSION   NM_001099403
VERSION     NM_001099403.2
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 3130)
  AUTHORS   Cypris,O., Eipel,M., Franzen,J., Rosseler,C., Tharmapalan,V.,
            Kuo,C.C., Vieri,M., Nikolic,M., Kirschner,M., Brummendorf,T.H.,
            Zenke,M., Lampert,A., Beier,F. and Wagner,W.
  TITLE     PRDM8 reveals aberrant DNA methylation in aging syndromes and is
            relevant for hematopoietic and neuronal differentiation
  JOURNAL   Clin Epigenetics 12 (1), 125 (2020)
   PUBMED   32819411
  REMARK    GeneRIF: PRDM8 reveals aberrant DNA methylation in aging syndromes
            and is relevant for hematopoietic and neuronal differentiation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3130)
  AUTHORS   Chen,Z., Gao,W., Pu,L., Zhang,L., Han,G., Zuo,X., Zhang,Y., Li,X.,
            Shen,H., Wu,J. and Wang,X.
  TITLE     PRDM8 exhibits antitumor activities toward hepatocellular carcinoma
            by targeting NAP1L1
  JOURNAL   Hepatology 68 (3), 994-1009 (2018)
   PUBMED   29572888
  REMARK    GeneRIF: Through regulating NAP1L1, PRDM8 inhibits PI3K/AKT/mTOR
            signaling in hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 3130)
  AUTHORS   Lu,Z., Liu,Y., Ren,Z. and Yan,J.
  TITLE     PRDM8 internal promoter hyperhydroxymethylation correlates with
            increased expression of the corresponding transcript in Down
            syndrome
  JOURNAL   Mol Med Rep 14 (2), 1227-1234 (2016)
   PUBMED   27278638
  REMARK    GeneRIF: alteration of hydroxymethylation and methylation of PRDM8
            correlates with changes in its expression in the peripheral blood
            of children with DS. Given the proposed function of PRDM8 in
            cognitive disability in DS
REFERENCE   4  (bases 1 to 3130)
  AUTHORS   Weidner,C.I., Lin,Q., Birkhofer,C., Gerstenmaier,U., Kaifie,A.,
            Kirschner,M., Bruns,H., Balabanov,S., Trummer,A., Stockklausner,C.,
            Hochsmann,B., Schrezenmeier,H., Wlodarski,M., Panse,J.,
            Brummendorf,T.H., Beier,F. and Wagner,W.
  TITLE     DNA methylation in PRDM8 is indicative for dyskeratosis congenita
  JOURNAL   Oncotarget 7 (10), 10765-10772 (2016)
   PUBMED   26909595
  REMARK    GeneRIF: Aberrant hypermethylation is particularly observed in
            PRDM8 and this may support identification and classification of
            bone marrow failure syndromes
REFERENCE   5  (bases 1 to 3130)
  AUTHORS   Jung,C.C., Atan,D., Ng,D., Ploder,L., Ross,S.E., Klein,M.,
            Birch,D.G., Diez,E. and McInnes,R.R.
  TITLE     Transcription factor PRDM8 is required for rod bipolar and type 2
            OFF-cone bipolar cell survival and amacrine subtype identity
  JOURNAL   Proc Natl Acad Sci U S A 112 (23), E3010-E3019 (2015)
   PUBMED   26023183
REFERENCE   6  (bases 1 to 3130)
  AUTHORS   Turnbull,J., Girard,J.M., Lohi,H., Chan,E.M., Wang,P., Tiberia,E.,
            Omer,S., Ahmed,M., Bennett,C., Chakrabarty,A., Tyagi,A., Liu,Y.,
            Pencea,N., Zhao,X., Scherer,S.W., Ackerley,C.A. and Minassian,B.A.
  TITLE     Early-onset Lafora body disease
  JOURNAL   Brain 135 (Pt 9), 2684-2698 (2012)
   PUBMED   22961547
REFERENCE   7  (bases 1 to 3130)
  AUTHORS   Ross,S.E., McCord,A.E., Jung,C., Atan,D., Mok,S.I., Hemberg,M.,
            Kim,T.K., Salogiannis,J., Hu,L., Cohen,S., Lin,Y., Harrar,D.,
            McInnes,R.R. and Greenberg,M.E.
  TITLE     Bhlhb5 and Prdm8 form a repressor complex involved in neuronal
            circuit assembly
  JOURNAL   Neuron 73 (2), 292-303 (2012)
   PUBMED   22284184
REFERENCE   8  (bases 1 to 3130)
  AUTHORS   Eom,G.H., Kim,K., Kim,S.M., Kee,H.J., Kim,J.Y., Jin,H.M., Kim,J.R.,
            Kim,J.H., Choe,N., Kim,K.B., Lee,J., Kook,H., Kim,N. and Seo,S.B.
  TITLE     Histone methyltransferase PRDM8 regulates mouse testis
            steroidogenesis
  JOURNAL   Biochem Biophys Res Commun 388 (1), 131-136 (2009)
   PUBMED   19646955
REFERENCE   9  (bases 1 to 3130)
  AUTHORS   Xiao,B., Wilson,J.R. and Gamblin,S.J.
  TITLE     SET domains and histone methylation
  JOURNAL   Curr Opin Struct Biol 13 (6), 699-705 (2003)
   PUBMED   14675547
  REMARK    Review article
REFERENCE   10 (bases 1 to 3130)
  AUTHORS   Jiang,G.L. and Huang,S.
  TITLE     The yin-yang of PR-domain family genes in tumorigenesis
  JOURNAL   Histol Histopathol 15 (1), 109-117 (2000)
   PUBMED   10668202
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP219935.1, BC027929.1,
            BC071584.1, AI077328.1 and BC058908.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001099403.1.
            
            Summary: This gene encodes a protein that belongs to a conserved
            family of histone methyltransferases that predominantly act as
            negative regulators of transcription. The encoded protein contains
            an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET)
            domain and a double zinc-finger domain. Knockout of this gene in
            mouse results in mistargeting by neurons of the dorsal
            telencephalon, abnormal itch-like behavior, and impaired
            differentiation of rod bipolar cells. In humans, the protein has
            been shown to interact with the phosphatase laforin and the
            ubiquitin ligase malin, which regulate glycogen construction in the
            cytoplasm. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC071584.1, AK292137.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000415738.3/ ENSP00000406998.2
            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
            1-14                BP219935.1         1-14
            15-1538             BC027929.1         1-1524
            1539-2180           BC071584.1         1539-2180
            2181-2540           AI077328.1         133-492
            2541-3125           BC071584.1         2541-3125
            3126-3130           BC058908.1         2538-2542
FEATURES             Location/Qualifiers
     source          1..3130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.21"
     gene            1..3130
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /note="PR/SET domain 8"
                     /db_xref="GeneID:56978"
                     /db_xref="HGNC:HGNC:13993"
                     /db_xref="MIM:616639"
     exon            1..261
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /inference="alignment:Splign:2.1.0"
     exon            262..482
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             264..2333
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /note="PR-domain containing protein 8; PR domain 8"
                     /codon_start=1
                     /product="PR domain zinc finger protein 8"
                     /protein_id="NP_001092873.1"
                     /db_xref="CCDS:CCDS43243.1"
                     /db_xref="GeneID:56978"
                     /db_xref="HGNC:HGNC:13993"
                     /db_xref="MIM:616639"
                     /translation="MEDTGIQRGIWDGDAKAVQQCLTDIFTSVYTTCDIPENAIFGPC
                     VLSHTSLYDSIAFIALKSTDKRTVPYIFRVDTSAANGSSEGLMWLRLVQSARDKEEQN
                     LEAYIKNGQLFYRSLRRIAKDEELLVWYGKELTELLLLCPSRSHNKMNGSSPYTCLEC
                     SQRFQFEFPYVAHLRFRCPKRLHSADISPQDEQGGGVGTKDHGGGGGGGKDQQQQQQE
                     APLGPGPKFCKAGPLHHYPSPSPESSNPSAAAGGSSAKPSTDFHNLARELENSRGGSS
                     CSPAQSLSSGSGSGGGGGHQEAELSPDGIATGGGKGKRKFPEEAAEGGGGAGLVGGRG
                     RFVERPLPASKEDLVCTPQQYRASGSYFGLEENGRLFAPPSPETGEAKRSAFVEVKKA
                     ARAASLQEEGTADGAGVASEDQDAGGGGGSSTPAAASPVGAEKLLAPRPGGPLPSRLE
                     GGSPARGSAFTSVPQLGSAGSTSGGGGTGAGAAGGAGGGQGAASDERKSAFSQPARSF
                     SQLSPLVLGQKLGALEPCHPADGVGPTRLYPAAADPLAVKLQGAADLNGGCGSLPSGG
                     GGLPKQSPFLYATAFWPKSSAAAAAAAAAAAAGPLQLQLPSALTLLPPSFTSLCLPAQ
                     NWCAKCNASFRMTSDLVYHMRSHHKKEYAMEPLVKRRREEKLKCPICNESFRERHHLS
                     RHMTSHN"
     exon            483..714
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /inference="alignment:Splign:2.1.0"
     exon            715..3130
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3103..3108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /note="hexamer: AATAAA"
     polyA_site      3130
                     /gene="PRDM8"
                     /gene_synonym="EPM10; KMT8D; PFM5"
                     /note="major polyA site"
ORIGIN      
        1 agtcactgca tcgggtccat ctgtacaact ctctccgttt ctccgtctct ctccctccct
       61 ccctccctcc acccccccaa tctttttctc cccatctctc catctctctc ttatctcttc
      121 aggaagagcc taaaaggcgg caacaccaac acctcttgac atggaaatac actgatacaa
      181 taggcaaaag gaaacactcg attgcatctt cccggttcca ggtggcctta tttgggagat
      241 tctatactga ccttattcct gtgatggagg atactggcat ccagcgaggc atctgggatg
      301 gagatgccaa ggctgtccaa caatgtctga cagatatttt taccagcgtt tacaccacct
      361 gcgacatccc tgagaatgct atatttggtc cctgtgtcct gagccatact tccctatatg
      421 acagcatagc tttcatagct ctcaagtcta ctgacaagag aacagtaccg tatatctttc
      481 gggtagacac ctcagcagca aatggttcct cagaaggtct catgtggctg cggttggtcc
      541 aatcggccag agataaggaa gagcagaacc ttgaagccta cataaaaaac ggacagctgt
      601 tctaccgctc tctccgcagg attgccaaag acgaggagtt actagtttgg tacgggaaag
      661 aactgactga gttactcttg ctctgcccct ctagatccca caacaaaatg aatgggtcgt
      721 ccccttacac atgcctggaa tgcagccaac gtttccagtt tgagttcccc tatgtggcgc
      781 atctgcgttt ccgctgcccc aagagacttc acagcgctga tataagtccc caagacgaac
      841 aaggcggcgg cgtgggcacc aaggaccacg ggggcggcgg cggcggtggc aaagaccagc
      901 agcagcagca gcaggaggca cctttaggcc cgggtcccaa gttttgcaaa gccggccccc
      961 tccaccacta cccatccccc tccccggaaa gcagcaaccc atccgctgcc gccggcggca
     1021 gcagcgcgaa gccatccaca gacttccaca acctggccag ggagctggaa aactcccggg
     1081 gaggcagcag ctgctcccca gcccagagcc tcagcagcgg tagcggcagc ggcggcggcg
     1141 gcggccacca ggaggcggag ctgagtcccg acggcatcgc cacgggcggc ggcaaaggaa
     1201 agaggaaatt cccggaggag gcggcggagg gcggcggtgg cgctggtctg gtagggggcc
     1261 ggggccgctt cgtagagcgg cccctcccgg cctccaagga ggatctggtg tgcacaccgc
     1321 agcagtaccg agcctcgggc agctacttcg gcctggaaga gaacggccgc ctcttcgcgc
     1381 cgccaagtcc cgagacgggc gaggcgaagc gcagcgcctt cgtggaggtg aagaaggctg
     1441 cccgcgcggc cagcctgcag gaggagggga cagccgacgg cgcgggagtc gcctccgagg
     1501 accaggacgc tggcggcggc ggcggctcct ccacgcccgc ggccgcgtca ccggtgggcg
     1561 ccgagaagct gctggccccg cggcctgggg gcccgctgcc cagccggctc gagggcggca
     1621 gtcctgcgag gggcagcgcc ttcacttcgg tgccgcagct gggcagcgcg ggcagcacca
     1681 gcggtggggg cggaacgggc gccggggccg caggcggcgc gggcgggggc cagggcgccg
     1741 cgtcggacga gcgcaaaagc gccttctcgc agccagcacg ctctttctcg cagctgtccc
     1801 cgctggtgct gggccagaag ctgggcgcgc tcgagccatg ccaccccgcc gacggcgtgg
     1861 gccccaccag actctatccc gccgccgcgg accctctagc ggtgaagctc cagggggccg
     1921 cggacctgaa cggaggttgc gggtccctgc cgagcggcgg cggcggcctg cctaagcaga
     1981 gccccttcct gtacgccacc gccttctggc ccaagagctc cgctgccgct gcagccgcgg
     2041 ctgcggcggc ggccgcgggg cccttgcagc tgcagctgcc ctcggcgctc acgctgctgc
     2101 cgccctcctt cacctcgctg tgtctgcccg cgcagaactg gtgcgccaag tgcaatgcct
     2161 ccttccgcat gacctccgac ctggtgtacc atatgaggtc gcaccacaaa aaggagtatg
     2221 cgatggagcc cttggtgaag cggcggcgag aggagaaact caagtgcccc atctgcaatg
     2281 agtccttcag ggagcgccac cacctctcca ggcacatgac ctcgcataat tgactcggaa
     2341 aggaccccag ctttccacgc gcgcgcaagc acagttaagc cacctgcagg aataaacacg
     2401 cgagaacatc caccgcttcc ttgcaccccg aaaccctgca caaagacaca tacattcacc
     2461 gcccccccgc ccccccaacg cgcacacaca cgtcctctcc tcccaggaac ctcattcaaa
     2521 tatttacccg ggacacacac ccccccccac acacacacac agacacactc acacacaaga
     2581 gccaggatgg tggagttttg attgggtggg ttgtttgagg gggttttctt ttgaatgcac
     2641 gcattttcac tttccccaaa acaaaggtac attttttaaa atgtcatata ttgcaacata
     2701 ttgatgcatt tgtcatacgt ttctacttaa attattaagc acttacgatt tagatgtaat
     2761 aattatatgt aagggcaaaa tttattttag atataaagta aaggaggagg gtgagatgct
     2821 ttctgcattt cttgatgaca gtttgtgttc ctacaaaaat aaacaaaatg aataaaaagg
     2881 gatcaccatt caatttgagt ttccaggggg aagtgcatgt ataatgaaat gataatggac
     2941 ttcaatgaag aatgtcatca attatgtaca tatgtatttt cttttaatac aaagtgtaat
     3001 tttgtgccag tgaaatggag tctgaatagt tatgtgtttc ttttatccct ggaaatattt
     3061 attaaacttt atagtttatc cgagtatgtt ggatgctttg acaataaatg actattttct
     3121 tcaaagcaaa
//
