LOCUS       NM_004773                905 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens zinc finger HIT-type containing 3 (ZNHIT3), transcript
            variant 1, mRNA.
ACCESSION   NM_004773
VERSION     NM_004773.4
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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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 905)
  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
            AF400652.1 and BQ009986.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004773.3.
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR5189661.5078.1,
                                           SRR5189667.11595.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617429.5/ ENSP00000484687.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-829               AF400652.1         47-875
            830-905             BQ009986.1         16-91               c
FEATURES             Location/Qualifiers
     source          1..905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..905
                     /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..487
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004764.1"
                     /db_xref="CCDS:CCDS11312.1"
                     /db_xref="GeneID:9326"
                     /db_xref="HGNC:HGNC:12309"
                     /db_xref="MIM:604500"
                     /translation="MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNP
                     ETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNSDEEEDRVSLQNLKNLGESATLR
                     SLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES"
     exon            106..137
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     exon            138..224
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     exon            225..305
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     exon            306..905
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      812..817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="hexamer: AATAAA"
     polyA_site      839
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="major polyA site"
     regulatory      880..885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNHIT3"
                     /gene_synonym="Hit1; PEHO; TRIP3"
                     /note="hexamer: AATAAA"
     polyA_site      905
                     /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 cacaaagaac agtgcaaccc tgaaactcgt cctgttgaga aaaaaataag
      181 atcagctctt cctaccaaaa ccgtaaagcc tgtggaaaac aaagatgatg atgactctat
      241 agctgatttt ctcaatagtg atgaggaaga agacagagtt tctttgcaga atttaaagaa
      301 tttaggggaa tctgcaacat taagaagctt attgctcaat ccacacctca ggcagttgat
      361 ggtcaacctc gatcagggag aagacaaagc aaagctcatg agagcttaca tgcaagagcc
      421 tttgtttgtg gagtttgcag actgctgttt aggaattgtg gagccatccc agaatgagga
      481 gtcttaagat ggattattgt gctgcttgct caagcgtgtg cttgactcct ggaacctgcc
      541 tgctccctct cccagaccag ctagtttggg gctggggagc tcaggcaaaa gaggtttcca
      601 ggatgcagat taggtcatgc aggcctttac cggcattgat gtggctcatg tttcaggcag
      661 acttggggtc cttaaggtgg caagtccttt atggagagaa aacttgacat tcagatgatt
      721 gtttttaaat gttttacttt tggtacagtt gatagacatc ataaacgata tcaagcttac
      781 acttcatatg gagttaaact tggtcagtgt taataaaatc aaaacgtgat tctactgtac
      841 attgcattat tcataattta attgtttgaa attacattaa ataaatcaac taattaaata
      901 ctaaa
//
