LOCUS       NM_001281434             737 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens zinc finger HIT-type containing 3 (ZNHIT3), transcript
            variant 3, mRNA.
ACCESSION   NM_001281434
VERSION     NM_001281434.2
KEYWORDS    RefSeq.
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 737)
  AUTHORS   Brakta,S., Du,Q., Chorich,L.P., Hawkins,Z.A., Sullivan,M.E.,
            Ko,E.K., Kim,H.G., Knight,J., Taylor,H.S., Friez,M., Phillips,J.A.
            3rd and Layman,L.C.
  TITLE     Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion
            region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH)
            syndrome
  JOURNAL   Mol Cell Endocrinol 589, 112237 (2024)
   PUBMED   38599276
  REMARK    GeneRIF: Heterozygous ZNHIT3 variants within the 17q12 recurrent
            deletion region are associated with Mayer-Rokitansky-Kuster Hauser
            (MRKH) syndrome.
REFERENCE   2  (bases 1 to 737)
  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   3  (bases 1 to 737)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 737)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 737)
  AUTHORS   Anttonen,A.K., Laari,A., Kousi,M., Yang,Y.J., Jaaskelainen,T.,
            Somer,M., Siintola,E., Jakkula,E., Muona,M., Tegelberg,S.,
            Lonnqvist,T., Pihko,H., Valanne,L., Paetau,A., Lun,M.P.,
            Hastbacka,J., Kopra,O., Joensuu,T., Katsanis,N., Lehtinen,M.K.,
            Palvimo,J.J. and Lehesjoki,A.E.
  TITLE     ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with
            cerebellar granule neuron loss
  JOURNAL   Brain 140 (5), 1267-1279 (2017)
   PUBMED   28335020
  REMARK    GeneRIF: results suggest that loss-of-function missense mutation of
            znhit3 underlies PEHO syndrome.
REFERENCE   6  (bases 1 to 737)
  AUTHORS   Rothe,B., Saliou,J.M., Quinternet,M., Back,R., Tiotiu,D.,
            Jacquemin,C., Loegler,C., Schlotter,F., Pena,V., Eckert,K.,
            Morera,S., Dorsselaer,A.V., Branlant,C., Massenet,S.,
            Sanglier-Cianferani,S., Manival,X. and Charpentier,B.
  TITLE     Protein Hit1, a novel box C/D snoRNP assembly factor, controls
            cellular concentration of the scaffolding protein Rsa1 by direct
            interaction
  JOURNAL   Nucleic Acids Res 42 (16), 10731-10747 (2014)
   PUBMED   25170085
REFERENCE   7  (bases 1 to 737)
  AUTHORS   Koppen,A., Houtman,R., Pijnenburg,D., Jeninga,E.H., Ruijtenbeek,R.
            and Kalkhoven,E.
  TITLE     Nuclear receptor-coregulator interaction profiling identifies TRIP3
            as a novel peroxisome proliferator-activated receptor gamma
            cofactor
  JOURNAL   Mol Cell Proteomics 8 (10), 2212-2226 (2009)
   PUBMED   19596656
  REMARK    GeneRIF: Results identify TRIP3 as a novel regulator of
            PPARgamma-mediated adipocyte differentiation.
REFERENCE   8  (bases 1 to 737)
  AUTHORS   Zhang,J.B., Li,X.H., Ning,F. and Guo,X.S.
  TITLE     [Relationship between expression of GYPC and TRIP3 genes and
            prognosis of acute lymphoblastic leukemia in children]
  JOURNAL   Zhongguo Dang Dai Er Ke Za Zhi 11 (1), 29-32 (2009)
   PUBMED   19149918
  REMARK    GeneRIF: A high GYPC gene expression is associated with an
            unfavorable outcome, in contrast, a high TRIP3 gene expression is
            associated with a favorable outcome in childhood ALL.
REFERENCE   9  (bases 1 to 737)
  AUTHORS   Iwahashi,H., Yamagata,K., Yoshiuchi,I., Terasaki,J., Yang,Q.,
            Fukui,K., Ihara,A., Zhu,Q., Asakura,T., Cao,Y., Imagawa,A.,
            Namba,M., Hanafusa,T., Miyagawa,J. and Matsuzawa,Y.
  TITLE     Thyroid hormone receptor interacting protein 3 (trip3) is a novel
            coactivator of hepatocyte nuclear factor-4alpha
  JOURNAL   Diabetes 51 (4), 910-914 (2002)
   PUBMED   11916906
REFERENCE   10 (bases 1 to 737)
  AUTHORS   Lee,J.W., Choi,H.S., Gyuris,J., Brent,R. and Moore,D.D.
  TITLE     Two classes of proteins dependent on either the presence or absence
            of thyroid hormone for interaction with the thyroid hormone
            receptor
  JOURNAL   Mol Endocrinol 9 (2), 243-254 (1995)
   PUBMED   7776974
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY045632.1, BE260293.1, AF400652.1 and BQ009986.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001281434.1.
            
            Transcript Variant: This variant (3) lacks two consecutive in-frame
            coding exons compared to variant 1. The resulting isoform (3) is
            shorter, missing an internal protein segment, compared to isoform
            1.
            
            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 :: BE260293.1, ERR4352444.265452.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMN02400308
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                HY045632.1         56-102
            48-254              BE260293.1         1-207
            255-661             AF400652.1         469-875
            662-737             BQ009986.1         16-91               c
FEATURES             Location/Qualifiers
     source          1..737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..737
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="zinc finger HIT-type containing 3"
                     /db_xref="GeneID:9326"
                     /db_xref="HGNC:HGNC:12309"
                     /db_xref="MIM:604500"
     exon            1..105
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..319
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="isoform 3 is encoded by transcript variant 3;
                     thyroid receptor interacting protein 3; thyroid hormone
                     receptor interactor 3; zinc finger, HIT domain containing
                     3; zinc finger, HIT type 3; zinc finger HIT
                     domain-containing protein 3; TRIP-3; HNF-4a coactivator;
                     TR-interacting protein 3"
                     /codon_start=1
                     /product="zinc finger HIT domain-containing protein 3
                     isoform 3"
                     /protein_id="NP_001268363.1"
                     /db_xref="GeneID:9326"
                     /db_xref="HGNC:HGNC:12309"
                     /db_xref="MIM:604500"
                     /translation="MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKGESAT
                     LRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES"
     exon            106..137
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     exon            138..737
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      644..649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="hexamer: AATAAA"
     polyA_site      671
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="major polyA site"
     regulatory      712..717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="hexamer: AATAAA"
     polyA_site      737
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="major polyA site"
ORIGIN      
        1 agtctccttc cacaaaacca tggcgtcgct caaatgtagc accgtcgtct gcgtgatctg
       61 cttggagaag cccaaatacc gctgtccagc ctgccgcgtg ccctactgct cggtagtctg
      121 cttccggaag cacaaagggg aatctgcaac attaagaagc ttattgctca atccacacct
      181 caggcagttg atggtcaacc tcgatcaggg agaagacaaa gcaaagctca tgagagctta
      241 catgcaagag cctttgtttg tggagtttgc agactgctgt ttaggaattg tggagccatc
      301 ccagaatgag gagtcttaag atggattatt gtgctgcttg ctcaagcgtg tgcttgactc
      361 ctggaacctg cctgctccct ctcccagacc agctagtttg gggctgggga gctcaggcaa
      421 aagaggtttc caggatgcag attaggtcat gcaggccttt accggcattg atgtggctca
      481 tgtttcaggc agacttgggg tccttaaggt ggcaagtcct ttatggagag aaaacttgac
      541 attcagatga ttgtttttaa atgttttact tttggtacag ttgatagaca tcataaacga
      601 tatcaagctt acacttcata tggagttaaa cttggtcagt gttaataaaa tcaaaacgtg
      661 attctactgt acattgcatt attcataatt taattgtttg aaattacatt aaataaatca
      721 actaattaaa tactaaa
//
