LOCUS       NM_021008               2190 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens DEAF1 transcription factor (DEAF1), transcript variant
            1, mRNA.
ACCESSION   NM_021008 XM_938667
VERSION     NM_021008.4
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 2190)
  AUTHORS   Harkin,E.F., Nasrallah,G., Le Francois,B. and Albert,P.R.
  TITLE     Transcriptional Regulation of the Human 5-HT1A Receptor Gene by
            Lithium: Role of Deaf1 and GSK3beta
  JOURNAL   Int J Mol Sci 24 (21), 15620 (2023)
   PUBMED   37958600
  REMARK    GeneRIF: Transcriptional Regulation of the Human 5-HT1A Receptor
            Gene by Lithium: Role of Deaf1 and GSK3beta.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2190)
  AUTHORS   Chen,S., Deng,X., Xiong,J., He,F., Yang,L., Chen,B., Chen,C.,
            Zhang,C., Yang,L., Peng,J. and Yin,F.
  TITLE     De novo variants of DEAF1 cause intellectual disability in six
            Chinese patients
  JOURNAL   Clin Chim Acta 518, 17-21 (2021)
   PUBMED   33705764
  REMARK    GeneRIF: De novo variants of DEAF1 cause intellectual disability in
            six Chinese patients.
REFERENCE   3  (bases 1 to 2190)
  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   4  (bases 1 to 2190)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2190)
  AUTHORS   Yip,L., Su,L., Sheng,D., Chang,P., Atkinson,M., Czesak,M.,
            Albert,P.R., Collier,A.R., Turley,S.J., Fathman,C.G. and
            Creusot,R.J.
  TITLE     Deaf1 isoforms control the expression of genes encoding peripheral
            tissue antigens in the pancreatic lymph nodes during type 1
            diabetes
  JOURNAL   Nat Immunol 10 (9), 1026-1033 (2009)
   PUBMED   19668219
  REMARK    GeneRIF: Lower peripheral tissue antigens (PTA) expression
            resulting from the alternative splicing of DEAF1 may contribute to
            the pathogenesis of type 1 diabetes.
REFERENCE   6  (bases 1 to 2190)
  AUTHORS   Manne,U., Gary,B.D., Oelschlager,D.K., Weiss,H.L., Frost,A.R. and
            Grizzle,W.E.
  TITLE     Altered subcellular localization of suppressin, a novel inhibitor
            of cell-cycle entry, is an independent prognostic factor in
            colorectal adenocarcinomas
  JOURNAL   Clin Cancer Res 7 (11), 3495-3503 (2001)
   PUBMED   11705868
  REMARK    GeneRIF: The spn gene was mutated in the primary CRC, the
            expression of SPN was primarily cytoplasmic in nonmucinous CRCs and
            nuclear in mucinous CRCs.
REFERENCE   7  (bases 1 to 2190)
  AUTHORS   Bottomley,M.J., Collard,M.W., Huggenvik,J.I., Liu,Z., Gibson,T.J.
            and Sattler,M.
  TITLE     The SAND domain structure defines a novel DNA-binding fold in
            transcriptional regulation
  JOURNAL   Nat Struct Biol 8 (7), 626-633 (2001)
   PUBMED   11427895
REFERENCE   8  (bases 1 to 2190)
  AUTHORS   Michelson,R.J., Collard,M.W., Ziemba,A.J., Persinger,J.,
            Bartholomew,B. and Huggenvik,J.I.
  TITLE     Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding
            domain and represses transcription of the heterogeneous nuclear
            ribonucleoprotein A2/B1 promoter
  JOURNAL   J Biol Chem 274 (43), 30510-30519 (1999)
   PUBMED   10521432
REFERENCE   9  (bases 1 to 2190)
  AUTHORS   Huggenvik,J.I., Michelson,R.J., Collard,M.W., Ziemba,A.J.,
            Gurley,P. and Mowen,K.A.
  TITLE     Characterization of a nuclear deformed epidermal autoregulatory
            factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein
  JOURNAL   Mol Endocrinol 12 (10), 1619-1639 (1998)
   PUBMED   9773984
REFERENCE   10 (bases 1 to 2190)
  AUTHORS   LeBoeuf,R.D., Ban,E.M., Green,M.M., Stone,A.S., Propst,S.M.,
            Blalock,J.E. and Tauber,J.D.
  TITLE     Molecular cloning, sequence analysis, expression, and tissue
            distribution of suppressin, a novel suppressor of cell cycle entry
  JOURNAL   J Biol Chem 273 (1), 361-368 (1998)
   PUBMED   9417089
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291383.1 and AP006284.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 4, 2019 this sequence version replaced NM_021008.3.
            
            Summary: This gene encodes a zinc finger domain-containing protein
            that functions as a regulator of transcription. The encoded
            proteins binds to its own promoter as well as to that of several
            target genes. Activity of this protein is important in the
            regulation of embryonic development. Mutations in this gene have
            been found in individuals with autosomal dominant cognitive
            disability. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: BC053322.1, AF049459.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382409.4/ ENSP00000371846.3
            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
            1-2040              AK291383.1         314-2353
            2041-2190           AP006284.2         102950-103099       c
FEATURES             Location/Qualifiers
     source          1..2190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2190
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /note="DEAF1 transcription factor"
                     /db_xref="GeneID:10522"
                     /db_xref="HGNC:HGNC:14677"
                     /db_xref="MIM:602635"
     exon            1..464
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..1873
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /note="isoform a is encoded by transcript variant 1;
                     suppressin; deformed epidermal autoregulatory factor 1
                     homolog; zinc finger MYND domain-containing protein 5;
                     nuclear DEAF-1-related transcriptional regulator"
                     /codon_start=1
                     /product="deformed epidermal autoregulatory factor 1
                     homolog isoform a"
                     /protein_id="NP_066288.2"
                     /db_xref="CCDS:CCDS31327.1"
                     /db_xref="GeneID:10522"
                     /db_xref="HGNC:HGNC:14677"
                     /db_xref="MIM:602635"
                     /translation="MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSR
                     DEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVT
                     VANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
                     TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNR
                     LGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHA
                     ASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFT
                     VTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEP
                     HYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEP
                     RSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCG
                     REAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV"
     exon            465..562
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            563..692
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            693..839
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            840..979
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1045
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1172
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1301
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1430
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1678
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1768
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..2190
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2171..2176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /note="hexamer: AATAAA"
     polyA_site      2190
                     /gene="DEAF1"
                     /gene_synonym="MRD24; NEDHELS; NUDR; SPN; VSVS; ZMYND5"
                     /note="major polyA site"
ORIGIN      
        1 ggactcggct cggctctgct cggcggctgg ctgccttttc ggtccctatt cgggcggcgg
       61 cttcgggcgg cctcggccca gctcgggcgt cctcttcggg ccccgcttcg ggctccgcga
      121 ccggcgcttc gggcggtccc ggacggcgcc ttcgggaagg ctcggcggag tccggatgga
      181 ggactcggac tcggcggcaa agcagctggg cctggctgag gcggcggcgg tggcggccgc
      241 ggccgctgtg gcggcggcgg ccgcggccgc ggcaggaggc gaggcggagg agccggtgct
      301 gagcagggac gaggactcgg aggaggacgc agactcggag gcggagcggg agacgccgcg
      361 ggtcacggca gtggcggtga tggcggcgga gcccgggcac atggacatgg gcgccgaggc
      421 cctgcccggc cccgacgagg ccgccgctgc cgcagccttc gcagaggtga ccacagtgac
      481 agtggccaac gtgggggctg ctgcagacaa tgtcttcacc acgtctgtgg cgaacgcggc
      541 atccatctca ggacatgttc tgtctggtag gacggccctt cagatcgggg acagcctgaa
      601 caccgaaaaa gcgacactga ttgtcgtcca cacagatggg agcatcgtgg agaccaccgg
      661 gctgaaaggc ccggcagctc ccctcacccc aggtcctcag tctcctccaa cccctctggc
      721 tcccggccaa gaaaaaggtg gaactaaata caactgggac ccttctgtgt acgacagtga
      781 gctgcccgta cggtgccgga acatcagcgg cactctgtac aagaacaggc tcggctcagg
      841 cggccgggga cggtgcatca agcaggggga gaactggtac agtcccaccg agtttgaggc
      901 catggcagga agagccagca gtaaggactg gaaaagaagc attcgctacg cgggccgacc
      961 cttgcagtgc ctcatccagg atgggatctt aaaccctcac gctgcctctt gcacctgtgc
     1021 tgcctgctgc gacgacatga ccttaagtgg cccagtcagg ctttttgtgc cttacaaaag
     1081 gcgcaagaag gagaatgaac tgcccacaac tcccgtgaag aaggactccc ccaagaacat
     1141 cacattgctt ccagccaccg cggctaccac cttcaccgtg accccctcgg gacagatcac
     1201 gacctcgggg gcactgacct ttgaccgagc gtccacggta gaggccactg ctgtcatatc
     1261 agagagtccg gcccagggcg acgtcttcgc aggggccaca gtccaagagg ccagcgtgca
     1321 gcccccatgc agggccagcc accctgagcc tcactacccc ggctatcagg acagctgcca
     1381 gatcgcaccg tttccagaag ctgcgttgcc aacgtcacat cccaaaatag tgttgacatc
     1441 cctgcctgcg ctggcggtcc cacccccgac tcccaccaaa gcggcacctc ccgcgttggt
     1501 caatgggctg gagctgtcag agccgcggag ctggctgtac ctagaagaga tggtcaactc
     1561 cttgctcaac acagcgcagc agctgaagac gctgtttgag caagccaagc atgccagcac
     1621 ctaccgagaa gctgccacaa accaggccaa gatccacgct gacgcagagc ggaaggagca
     1681 gtcctgcgtt aactgcggcc gggaggctat gagcgagtgc accggctgcc acaaggtcaa
     1741 ctactgctcc accttctgcc aacgcaagga ctggaaggat caccagcaca tatgcggcca
     1801 gtcagcagct gtcaccgtcc aggcagacga agtccacgtg gctgaaagcg tgatggagaa
     1861 ggtgaccgtg tgaggctcca tcggccgccc tgggagctgg ggcccctcgc actcctgtga
     1921 ggcttttgca ggtcgaaggc ccccctgagg actctggggg gacgttgaga agaggggtgt
     1981 gggaaggtaa agaaacttgc tggacaagtc attaacacac tttaagcgaa tggtgccctg
     2041 ggaagcgcac tccccctgcc cgggccccct gcccgctcgc ggacagattt tttatccctg
     2101 ggatcatgag cgtccggtct tgcccacagg gcctgtgctg cgacgcacat acatacgtgt
     2161 tgtgtctgtc aataaagtgt aaataaggtc
//
