LOCUS       NM_018189               2788 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens developmental pluripotency associated 4 (DPPA4),
            transcript variant 1, mRNA.
ACCESSION   NM_018189
VERSION     NM_018189.4
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 2788)
  AUTHORS   Auvinen,P., Vehvilainen,J., Marjonen,H., Modhukur,V., Sokka,J.,
            Wallen,E., Ramo,K., Ahola,L., Salumets,A., Otonkoski,T.,
            Skottman,H., Ollikainen,M., Trokovic,R., Kahila,H. and
            Kaminen-Ahola,N.
  TITLE     Chromatin modifier developmental pluripotency associated factor 4
            (DPPA4) is a candidate gene for alcohol-induced developmental
            disorders
  JOURNAL   BMC Med 20 (1), 495 (2022)
   PUBMED   36581877
  REMARK    GeneRIF: Chromatin modifier developmental pluripotency associated
            factor 4 (DPPA4) is a candidate gene for alcohol-induced
            developmental disorders.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2788)
  AUTHORS   Abu-Dawud,R., Mistry,B.V., Almahdali,R., Matin,M.M., Alaiya,A.,
            Alghamdi,F., Alamari,H., Al-Yacoub,N., Kashir,J., Houssein,M.,
            Alawad,A., Andrews,P.W. and Assiri,A.M.
  TITLE     Dynamic cytosolic foci of DPPA4 in human pluripotent stem cells
  JOURNAL   Tissue Cell 78, 101893 (2022)
   PUBMED   36007377
  REMARK    GeneRIF: Dynamic cytosolic foci of DPPA4 in human pluripotent stem
            cells.
REFERENCE   3  (bases 1 to 2788)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 2788)
  AUTHORS   Li,H., Long,C., Xiang,J., Liang,P., Li,X. and Zuo,Y.
  TITLE     Dppa2/4 as a trigger of signaling pathways to promote zygote genome
            activation by binding to CG-rich region
  JOURNAL   Brief Bioinform 22 (4) (2021)
   PUBMED   33316032
  REMARK    GeneRIF: Dppa2/4 as a trigger of signaling pathways to promote
            zygote genome activation by binding to CG-rich region.
REFERENCE   5  (bases 1 to 2788)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2788)
  AUTHORS   Chakravarthy,H., Boer,B., Desler,M., Mallanna,S.K., McKeithan,T.W.
            and Rizzino,A.
  TITLE     Identification of DPPA4 and other genes as putative Sox2:Oct-3/4
            target genes using a combination of in silico analysis and
            transcription-based assays
  JOURNAL   J Cell Physiol 216 (3), 651-662 (2008)
   PUBMED   18366076
  REMARK    GeneRIF: Thsi study identifies DPPA4 and other genes as putative
            Sox2:Oct-3/4 target genes using a combination of in silico analysis
            and transcription-based assays.
REFERENCE   7  (bases 1 to 2788)
  AUTHORS   Player,A., Wang,Y., Bhattacharya,B., Rao,M., Puri,R.K. and
            Kawasaki,E.S.
  TITLE     Comparisons between transcriptional regulation and RNA expression
            in human embryonic stem cell lines
  JOURNAL   Stem Cells Dev 15 (3), 315-323 (2006)
   PUBMED   16846370
REFERENCE   8  (bases 1 to 2788)
  AUTHORS   Juric,D., Sale,S., Hromas,R.A., Yu,R., Wang,Y., Duran,G.E.,
            Tibshirani,R., Einhorn,L.H. and Sikic,B.I.
  TITLE     Gene expression profiling differentiates germ cell tumors from
            other cancers and defines subtype-specific signatures
  JOURNAL   Proc Natl Acad Sci U S A 102 (49), 17763-17768 (2005)
   PUBMED   16306258
REFERENCE   9  (bases 1 to 2788)
  AUTHORS   Skotheim,R.I., Lind,G.E., Monni,O., Nesland,J.M., Abeler,V.M.,
            Fossa,S.D., Duale,N., Brunborg,G., Kallioniemi,O., Andrews,P.W. and
            Lothe,R.A.
  TITLE     Differentiation of human embryonal carcinomas in vitro and in vivo
            reveals expression profiles relevant to normal development
  JOURNAL   Cancer Res 65 (13), 5588-5598 (2005)
   PUBMED   15994931
REFERENCE   10 (bases 1 to 2788)
  AUTHORS   Bortvin,A., Eggan,K., Skaletsky,H., Akutsu,H., Berry,D.L.,
            Yanagimachi,R., Page,D.C. and Jaenisch,R.
  TITLE     Incomplete reactivation of Oct4-related genes in mouse embryos
            cloned from somatic nuclei
  JOURNAL   Development 130 (8), 1673-1680 (2003)
   PUBMED   12620990
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC076971.25.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 4, 2021 this sequence version replaced NM_018189.3.
            
            Summary: This gene encodes a nuclear factor that is involved in the
            maintenance of pluripotency in stem cells and essential for
            embryogenesis. The encoded protein has a scaffold-attachment factor
            A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to
            modify chromatin. Mice with a homozygous knockout of the
            orthologous gene die during late embryonic development or within
            hours after birth. Knockout embryos are normal in size at embryonic
            day 18.5 but exhibit skeletal and lung tissue abnormalities. This
            gene, when mutated, is highly expressed in embryonal carcinomas,
            pluripotent germ cell tumors, and other cancers and is thought to
            play an important role in tumor progression. Multiple pseudogenes
            of this gene have been identified. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2017].
            
            Sequence Note:.
            
            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 :: BC032846.2, SRR14038191.450030.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335658.7/ ENSP00000335306.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                AC076971.25        5177-5259
            84-207              AC076971.25        8730-8853
            208-368             AC076971.25        10692-10852
            369-419             AC076971.25        10939-10989
            420-708             AC076971.25        11911-12199
            709-907             AC076971.25        13635-13833
            908-2788            AC076971.25        14699-16579
FEATURES             Location/Qualifiers
     source          1..2788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.13"
     gene            1..2788
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="developmental pluripotency associated 4"
                     /db_xref="GeneID:55211"
                     /db_xref="HGNC:HGNC:19200"
                     /db_xref="MIM:614125"
     exon            1..83
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..944
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="isoform 1 is encoded by transcript variant 1;
                     developmental pluripotency-associated protein 4"
                     /codon_start=1
                     /product="developmental pluripotency-associated protein 4
                     isoform 1"
                     /protein_id="NP_060659.3"
                     /db_xref="CCDS:CCDS33814.1"
                     /db_xref="GeneID:55211"
                     /db_xref="HGNC:HGNC:19200"
                     /db_xref="MIM:614125"
                     /translation="MLRGSASSTSMEKAKGKEWTSTEKSREEDQQASNQPNSIALPGT
                     SAKRTKEKMSIKGSKVLCPKKKAEHTDNPRPQKKIPIPPLPSKLPPVNLIHRDILRAW
                     CQQLKLSSKGQKLDAYKRLCAFAYPNQKDFPSTAKEAKIRKSLQKKLKVEKGETSLQS
                     SETHPPEVALPPVGEPPALENSTALLEGVNTVVVTTSAPEALLASWARISARARTPEA
                     VESPQEASGVRWCVVHGKSLPADTDGWVHLQFHAGQAWVPEKQEGRVSALFLLPASNF
                     PPPHLEDNMLCPKCVHRNKVLIKSLQWE"
     exon            84..207
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            208..368
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            369..419
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            420..708
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            709..907
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            908..2788
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2553..2558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2577
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="major polyA site"
     regulatory      2739..2744
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="hexamer: AATAAA"
     regulatory      2766..2771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2767
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
     polyA_site      2788
                     /gene="DPPA4"
                     /gene_synonym="2410091M23Rik"
ORIGIN      
        1 aatcttgggg caggggccat tttggaagca tgttgcgagg ctccgcttct tctacaagta
       61 tggagaaggc aaaaggcaag gagtggacct ccacagagaa gtcgagggaa gaggatcagc
      121 aggcttctaa tcaaccaaat tcaattgctt tgccaggaac atcagcaaag agaaccaaag
      181 aaaaaatgtc tatcaaaggc agtaaagtgc tctgccctaa gaaaaaggca gagcacactg
      241 acaaccccag acctcagaag aagataccaa tccctccatt accttctaaa ctgccacctg
      301 ttaatctgat tcaccgggac attctgcggg cctggtgcca acaattgaag ctgagctcca
      361 aaggccagaa attggatgca tataagcgcc tgtgtgcctt tgcctaccca aatcaaaagg
      421 attttcctag cacagcaaaa gaggccaaaa tccggaaatc attgcaaaaa aaattaaagg
      481 tggaaaaggg ggaaacgtcc ctgcaaagtt ctgagacaca tcctcctgaa gtggctcttc
      541 ctcctgtggg ggagccgcct gccctggaaa attccactgc tctccttgag ggagttaata
      601 cagttgtggt gacaacttct gccccagagg ctttgctggc ctcctgggcg agaatttcag
      661 ccagggcgag gacaccagag gcagtggaat ctccacaaga ggcctctggt gtcaggtggt
      721 gtgtggtcca tgggaaaagt ctccctgcag acacagatgg ttgggttcac ctgcagtttc
      781 atgctggtca agcctgggtt ccagaaaagc aagaagggag agtgagtgca ctcttcttgc
      841 ttcctgcctc caattttcca cccccgcacc ttgaagacaa tatgttgtgc cccaaatgtg
      901 ttcacaggaa caaggtctta ataaaaagcc tccaatggga atagaatatc aggaaaaagg
      961 ccacatctat ggtaattaat ggcagaaaag ctggagagtt ggattctgcg gtgctgctga
     1021 caggtgaact ctggtcctct gcacctgttt atgggccatg cagactggtg gggtggcaga
     1081 tgttagccta agacccctag cagtgcctgt tgctttgtga gtggagatag agactcttac
     1141 atttaaaaat ggaaaaacat ttcacaaatt accataaatt gtagttaata tgtagaaaaa
     1201 ctcattcata ctacttttct aaaatagaca tgacttcagc agcagctttt ttttgttgta
     1261 ttttgagaca gtgtctcact gttgcccagg ctggagtgca gtggtgcaat ctcagttcag
     1321 tgcaatctcc gcctcctggg ttcaaatgat tctcctgcct cagcctcctg agtagctagg
     1381 tacaggcacc tgccaccaca cccagctaat tttttgtatt tttagtagag atggggtttc
     1441 accatgttgg ccaggttggt ctcaaactcc tggactcaag tgatcaccct cctcagcctc
     1501 ccaaaatgct gggactatgg gcatgagccc ctgcgcctga ccttcaacag ctcttttaag
     1561 tgagttcttc agctaagcat tgtgatggac ttgagtaaaa tggtagttgg ctcttgtgct
     1621 caattttctc ttcctctgaa cactgactac tttaggagct gcttcattcc aattgcaatt
     1681 tcataaaacg taaagtattt taaggcaaag aaaggctgtt aattccctcc ctcccccaaa
     1741 cacatgattt ttaatattct aaacaatatt tttcaaagtt ctcttaataa cctgagattt
     1801 ctatggtttg actccaggat caaaacacaa gggactttgt attatttcac ttataattgt
     1861 tttgtatatt tctggagttt aaaatgttta aggttgcttc ccgctcataa atacataata
     1921 tattgaattt aaaatgtgtt tattaaccga ttctccataa ataaaaataa gatgtgtatg
     1981 taaaataatt catctgttgt atttagagaa ccatattcat tgcatgcaaa ttttattgtt
     2041 agtgttctta actcaagtag gagtaaacca aaaagtgtga tttttctttt gtatgactcg
     2101 tttgttcttt attagttggt ggtatgggtt ggatcatttg tttttaaaac tacttaggta
     2161 tgattcacat acaaaaagct gcacatattt aatgtatcct attgtgtaat taatttttaa
     2221 tttttttgtg tacttcctaa acttatagtc ctgcgagtct gggaacagat ctgtttttca
     2281 cttatcctga tttaatgaca gtttccaaca ttgttttgtt attacaagta ggggatcttt
     2341 ttttttgccc gtttaatgaa gatactaaaa ataatgcact ggaaggagtg gaagagttgg
     2401 aaaatttgta accatcataa tacaggtgta ataggtttgg gaaagaatcc tcaaaaatgt
     2461 taaagcaagg gaggaaagtt tgttgagaag caagatgttc ttctctcctg cccgcccccg
     2521 ccgttggttg ttggtggtca gaattattgt gtaataaata atagacattt tttcttatac
     2581 tatgtgtatt gttccttttg tttccttttt aaacttctcc cctgctttat ttggatgggt
     2641 caagtttctg ttctgtttcc ttcctttcta ttaatttgga aatgtccttg gctttacgat
     2701 tctgcttgta gatacttccc ctgcttctaa cacatttcaa taaacttaaa tttctctata
     2761 tacaaaataa attaataatt ggagtcta
//
