LOCUS       NM_001256016            1374 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript
            variant 5, mRNA.
ACCESSION   NM_001256016
VERSION     NM_001256016.2
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 1374)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 1374)
  AUTHORS   Mei,L., Huang,L., Huang,Y., Wu,X., He,H., He,X., Su,Z. and Li,P.
  TITLE     Two novel biallelic mutations in PSMC3IP in a patient affected by
            premature ovarian insufficiency
  JOURNAL   Mol Med Rep 25 (2) (2022)
   PUBMED   34878148
  REMARK    GeneRIF: Two novel biallelic mutations in PSMC3IP in a patient
            affected by premature ovarian insufficiency.
REFERENCE   3  (bases 1 to 1374)
  AUTHORS   Nathansen,J., Lukiyanchuk,V., Hein,L., Stolte,M.I., Borgmann,K.,
            Lock,S., Kurth,I., Baumann,M., Krause,M., Linge,A. and Dubrovska,A.
  TITLE     Oct4 confers stemness and radioresistance to head and neck squamous
            cell carcinoma by regulating the homologous recombination factors
            PSMC3IP and RAD54L
  JOURNAL   Oncogene 40 (24), 4214-4228 (2021)
   PUBMED   34079088
  REMARK    GeneRIF: Oct4 confers stemness and radioresistance to head and neck
            squamous cell carcinoma by regulating the homologous recombination
            factors PSMC3IP and RAD54L.
REFERENCE   4  (bases 1 to 1374)
  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   5  (bases 1 to 1374)
  AUTHORS   Zangen,D., Kaufman,Y., Zeligson,S., Perlberg,S., Fridman,H.,
            Kanaan,M., Abdulhadi-Atwan,M., Abu Libdeh,A., Gussow,A.,
            Kisslov,I., Carmel,L., Renbaum,P. and Levy-Lahad,E.
  TITLE     XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that
            abolishes coactivation of estrogen-driven transcription
  JOURNAL   Am J Hum Genet 89 (4), 572-579 (2011)
   PUBMED   21963259
  REMARK    GeneRIF: a PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis
            through abolishing coactivation of estrogen-driven transcription
REFERENCE   6  (bases 1 to 1374)
  AUTHORS   Enomoto,R., Kinebuchi,T., Sato,M., Yagi,H., Kurumizaka,H. and
            Yokoyama,S.
  TITLE     Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1
            complex
  JOURNAL   J Biol Chem 281 (9), 5575-5581 (2006)
   PUBMED   16407260
  REMARK    GeneRIF: Data suggest that the human TBPIP/Hop2-Mnd1 complex may
            ensure proper pairing between homologous chromosomes through its
            stimulation of strand exchange during meiosis.
REFERENCE   7  (bases 1 to 1374)
  AUTHORS   Ko,L., Cardona,G.R., Henrion-Caude,A. and Chin,W.W.
  TITLE     Identification and characterization of a tissue-specific
            coactivator, GT198, that interacts with the DNA-binding domains of
            nuclear receptors
  JOURNAL   Mol Cell Biol 22 (1), 357-369 (2002)
   PUBMED   11739747
  REMARK    GeneRIF: Identification of GT198 (TBPIP/Hop2) as a nuclear receptor
            coactivator. GT198 is phosphorylation regulated. GT198 interacts
            with nuclear receptors.
REFERENCE   8  (bases 1 to 1374)
  AUTHORS   Ijichi,H., Tanaka,T., Nakamura,T., Yagi,H., Hakuba,A. and Sato,M.
  TITLE     Molecular cloning and characterization of a human homologue of
            TBPIP, a BRCA1 locus-related gene
  JOURNAL   Gene 248 (1-2), 99-107 (2000)
   PUBMED   10806355
REFERENCE   9  (bases 1 to 1374)
  AUTHORS   Tanaka,T., Nakamura,T., Takagi,H. and Sato,M.
  TITLE     Molecular cloning and characterization of a novel TBP-1 interacting
            protein (TBPIP):enhancement of TBP-1 action on Tat by TBPIP
  JOURNAL   Biochem Biophys Res Commun 239 (1), 176-181 (1997)
   PUBMED   9345291
REFERENCE   10 (bases 1 to 1374)
  AUTHORS   Rommens,J.M., Durocher,F., McArthur,J., Tonin,P., LeBlanc,J.F.,
            Allen,T., Samson,C., Ferri,L., Narod,S., Morgan,K. et al.
  TITLE     Generation of a transcription map at the HSD17B locus centromeric
            to BRCA1 at 17q21
  JOURNAL   Genomics 28 (3), 530-542 (1995)
   PUBMED   7490091
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067852.23.
            
            On Aug 14, 2020 this sequence version replaced NM_001256016.1.
            
            Summary: This gene encodes a protein that functions in meiotic
            recombination. It is a subunit of the PSMC3IP/MND1 complex, which
            interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated
            strand exchange during meiosis. The protein encoded by this gene
            can also co-activate ligand-driven transcription mediated by
            estrogen, androgen, glucocorticoid, progesterone, and thyroid
            nuclear receptors. Mutations in this gene cause XX female gonadal
            dysgenesis. Alternative splicing of this gene results in multiple
            transcript variants. [provided by RefSeq, Dec 2011].
            
            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 :: BI115923.1, SRR12921934.1448047.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2151119,
                                           SAMEA2161674 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                AC067852.23        100299-100375
            78-178              AC067852.23        100467-100567
            179-268             AC067852.23        100726-100815
            269-287             AC067852.23        103694-103712
            288-399             AC067852.23        103818-103929
            400-545             AC067852.23        104405-104550
            546-599             AC067852.23        104664-104717
            600-659             AC067852.23        104862-104921
            660-1374            AC067852.23        105004-105718
FEATURES             Location/Qualifiers
     source          1..1374
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1374
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="PSMC3 interacting protein"
                     /db_xref="GeneID:29893"
                     /db_xref="HGNC:HGNC:17928"
                     /db_xref="MIM:608665"
     exon            1..77
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            78..178
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            179..268
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            269..287
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            288..399
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             300..716
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="isoform 4 is encoded by transcript variant 5;
                     homologous-pairing protein 2 homolog; DBD-interacting;
                     nuclear receptor coactivator GT198; TBP-1-interacting
                     protein; tat-binding protein 1-interacting protein;
                     proteasome 26S ATPase subunit 3-interacting protein"
                     /codon_start=1
                     /product="homologous-pairing protein 2 homolog isoform 4"
                     /protein_id="NP_001242945.1"
                     /db_xref="GeneID:29893"
                     /db_xref="HGNC:HGNC:17928"
                     /db_xref="MIM:608665"
                     /translation="MVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTT
                     PEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMAT
                     ELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP"
     exon            400..545
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            546..599
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            600..659
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            660..1374
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1353..1358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="hexamer: AATAAA"
     polyA_site      1374
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="major polyA site"
ORIGIN      
        1 aactacaacg tccggctttc tgagttgggt ggcgggaaag gcgatgagta aaggccgggc
       61 agaagctgcg gcgggagccg ccgggatcct cctgaggtac ctgcaggagc agaaccggcc
      121 ctacagctcc caggatgtgt tcgggaacct acagcgggaa cacggactgg gcaaggcggt
      181 ggtggtgaag acgctggagc agctggcgca acaaggcaag atcaaagaga agatgtacgg
      241 caagcagaag atctattttg cggatcagac cctctggaga ctttggggac cagtttgaca
      301 tggtgagtga tgctgacctt caagtcctag atggcaaaat cgtggccctc actgctaagg
      361 tgcagagctt gcagcagagc tgccgctaca tggaggctga gctcaaggaa ttatctagtg
      421 ccctgaccac accagagatg cagaaagaaa tccaggagtt aaagaaggaa tgcgctggct
      481 acagagagag attgaagaac attaaagcag ctaccaatca tgtgactcca gaagagaaag
      541 agcaggtgta cagagagagg cagaagtact gtaaggagtg gaggaagagg aagaggatgg
      601 ctacagagct gtctgatgca atacttgaag gataccccaa gagcaagaag cagttctttg
      661 aggaagttgg gatagagacg gatgaagatt acaacgtcac actcccagac ccctgagggg
      721 cccacggtca ggactggtgg ggactgcagg atgtcagaag agtgagatgt cttgcactgg
      781 ctaccttgtt tttggttggc ttttgttgtt gttcctgcta ctttcacctt taagcagagc
      841 agtcaggaga caagcataaa ccagagcact gggtagagag gatgagggct ggtggctggg
      901 ggtagaccca gcccatttca ttgtctaaat tgcagtagct tgaggttaac atttagactt
      961 ggaacaatgc taaaggaaag catttggcaa tatttattat aatttaattt tatataaaaa
     1021 tatttaattt cctctggata gtcaaacctg ccagatatca aacctgagga aggcagaagt
     1081 gaatttggag aactagggta gagagaggtt gctataaaac gagcatttgg agggcccacg
     1141 gcttcactca ggacctgctg ggcttgtgta ccccaggagc ccttttaagt atcttttgta
     1201 cgcttttcac cccaccccca agtcctggga gaaatgcagg caacactgag acatgggaga
     1261 ggccaagata tgcttgacag aaagggtgat tttgaggctc agttaatatt tcaaaattgt
     1321 aaccgtagca aaactgcatt ggtatttaga aaaataaaaa atttccaata tgta
//
