LOCUS       NM_016556               1355 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript
            variant 2, mRNA.
ACCESSION   NM_016556
VERSION     NM_016556.4
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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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 1355)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 2, 2019 this sequence version replaced NM_016556.3.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AB030304.1, SRR11853566.11754.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393795.8/ ENSP00000377384.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-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
            269-380             AC067852.23        103818-103929
            381-526             AC067852.23        104405-104550
            527-580             AC067852.23        104664-104717
            581-640             AC067852.23        104862-104921
            641-1355            AC067852.23        105004-105718
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..1355
                     /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"
     CDS             44..697
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_057640.1"
                     /db_xref="CCDS:CCDS45688.1"
                     /db_xref="GeneID:29893"
                     /db_xref="HGNC:HGNC:17928"
                     /db_xref="MIM:608665"
                     /translation="MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGK
                     AVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQS
                     LQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKE
                     QVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP"
     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..380
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            381..526
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            527..580
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            581..640
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     exon            641..1355
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1334..1339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC3IP"
                     /gene_synonym="GT198; HOP2; HUMGT198A; ODG3; TBPIP"
                     /note="hexamer: AATAAA"
     polyA_site      1355
                     /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 cggatcagga ccagtttgac atggtgagtg atgctgacct
      301 tcaagtccta gatggcaaaa tcgtggccct cactgctaag gtgcagagct tgcagcagag
      361 ctgccgctac atggaggctg agctcaagga attatctagt gccctgacca caccagagat
      421 gcagaaagaa atccaggagt taaagaagga atgcgctggc tacagagaga gattgaagaa
      481 cattaaagca gctaccaatc atgtgactcc agaagagaaa gagcaggtgt acagagagag
      541 gcagaagtac tgtaaggagt ggaggaagag gaagaggatg gctacagagc tgtctgatgc
      601 aatacttgaa ggatacccca agagcaagaa gcagttcttt gaggaagttg ggatagagac
      661 ggatgaagat tacaacgtca cactcccaga cccctgaggg gcccacggtc aggactggtg
      721 gggactgcag gatgtcagaa gagtgagatg tcttgcactg gctaccttgt ttttggttgg
      781 cttttgttgt tgttcctgct actttcacct ttaagcagag cagtcaggag acaagcataa
      841 accagagcac tgggtagaga ggatgagggc tggtggctgg gggtagaccc agcccatttc
      901 attgtctaaa ttgcagtagc ttgaggttaa catttagact tggaacaatg ctaaaggaaa
      961 gcatttggca atatttatta taatttaatt ttatataaaa atatttaatt tcctctggat
     1021 agtcaaacct gccagatatc aaacctgagg aaggcagaag tgaatttgga gaactagggt
     1081 agagagaggt tgctataaaa cgagcatttg gagggcccac ggcttcactc aggacctgct
     1141 gggcttgtgt accccaggag cccttttaag tatcttttgt acgcttttca ccccaccccc
     1201 aagtcctggg agaaatgcag gcaacactga gacatgggag aggccaagat atgcttgaca
     1261 gaaagggtga ttttgaggct cagttaatat ttcaaaattg taaccgtagc aaaactgcat
     1321 tggtatttag aaaaataaaa aatttccaat atgta
//
