LOCUS       NM_002804               1540 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens proteasome 26S subunit, ATPase 3 (PSMC3), mRNA.
ACCESSION   NM_002804
VERSION     NM_002804.5
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 1540)
  AUTHORS   Ebstein,F., Kury,S., Most,V., Rosenfelt,C., Scott-Boyer,M.P., van
            Woerden,G.M., Besnard,T., Papendorf,J.J., Studencka-Turski,M.,
            Wang,T., Hsieh,T.C., Golnik,R., Baldridge,D., Forster,C., de
            Konink,C., Teurlings,S.M.W., Vignard,V., van Jaarsveld,R.H.,
            Ades,L., Cogne,B., Mignot,C., Deb,W., Jongmans,M.C.J., Cole,F.S.,
            van den Boogaard,M.H., Wambach,J.A., Wegner,D.J., Yang,S.,
            Hannig,V., Brault,J.A., Zadeh,N., Bennetts,B., Keren,B.,
            Gelineau,A.C., Powis,Z., Towne,M., Bachman,K., Seeley,A.,
            Beck,A.E., Morrison,J., Westman,R., Averill,K., Brunet,T.,
            Haasters,J., Carter,M.T., Osmond,M., Wheeler,P.G., Forzano,F.,
            Mohammed,S., Trakadis,Y., Accogli,A., Harrison,R., Guo,Y.,
            Hakonarson,H., Rondeau,S., Baujat,G., Barcia,G., Feichtinger,R.G.,
            Mayr,J.A., Preisel,M., Laumonnier,F., Kallinich,T., Knaus,A.,
            Isidor,B., Krawitz,P., Volker,U., Hammer,E., Droit,A.,
            Eichler,E.E., Elgersma,Y., Hildebrand,P.W., Bolduc,F., Kruger,E.
            and Bezieau,S.
  TITLE     PSMC3 proteasome subunit variants are associated with
            neurodevelopmental delay and type I interferon production
  JOURNAL   Sci Transl Med 15 (698), eabo3189 (2023)
   PUBMED   37256937
  REMARK    GeneRIF: PSMC3 proteasome subunit variants are associated with
            neurodevelopmental delay and type I interferon production.
REFERENCE   2  (bases 1 to 1540)
  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   3  (bases 1 to 1540)
  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 1540)
  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 1540)
  AUTHORS   Kroll-Hermi,A., Ebstein,F., Stoetzel,C., Geoffroy,V., Schaefer,E.,
            Scheidecker,S., Bar,S., Takamiya,M., Kawakami,K., Zieba,B.A.,
            Studer,F., Pelletier,V., Eyermann,C., Speeg-Schatz,C., Laugel,V.,
            Lipsker,D., Sandron,F., McGinn,S., Boland,A., Deleuze,J.F.,
            Kuhn,L., Chicher,J., Hammann,P., Friant,S., Etard,C., Kruger,E.,
            Muller,J., Strahle,U. and Dollfus,H.
  TITLE     Proteasome subunit PSMC3 variants cause neurosensory syndrome
            combining deafness and cataract due to proteotoxic stress
  JOURNAL   EMBO Mol Med 12 (7), e11861 (2020)
   PUBMED   32500975
  REMARK    GeneRIF: Proteasome subunit PSMC3 variants cause neurosensory
            syndrome combining deafness and cataract due to proteotoxic stress.
REFERENCE   6  (bases 1 to 1540)
  AUTHORS   Shaw,D.R. and Ennis,H.L.
  TITLE     Molecular cloning and developmental regulation of Dictyostelium
            discoideum homologues of the human and yeast HIV1 Tat-binding
            protein
  JOURNAL   Biochem Biophys Res Commun 193 (3), 1291-1296 (1993)
   PUBMED   8323548
REFERENCE   7  (bases 1 to 1540)
  AUTHORS   Dubiel,W., Ferrell,K. and Rechsteiner,M.
  TITLE     Peptide sequencing identifies MSS1, a modulator of HIV Tat-mediated
            transactivation, as subunit 7 of the 26 S protease
  JOURNAL   FEBS Lett 323 (3), 276-278 (1993)
   PUBMED   8500623
REFERENCE   8  (bases 1 to 1540)
  AUTHORS   Ohana,B., Moore,P.A., Ruben,S.M., Southgate,C.D., Green,M.R. and
            Rosen,C.A.
  TITLE     The type 1 human immunodeficiency virus Tat binding protein is a
            transcriptional activator belonging to an additional family of
            evolutionarily conserved genes
  JOURNAL   Proc Natl Acad Sci U S A 90 (1), 138-142 (1993)
   PUBMED   8419915
REFERENCE   9  (bases 1 to 1540)
  AUTHORS   Dubiel,W., Ferrell,K., Pratt,G. and Rechsteiner,M.
  TITLE     Subunit 4 of the 26 S protease is a member of a novel eukaryotic
            ATPase family
  JOURNAL   J Biol Chem 267 (32), 22699-22702 (1992)
   PUBMED   1429620
REFERENCE   10 (bases 1 to 1540)
  AUTHORS   Nelbock,P., Dillon,P.J., Perkins,A. and Rosen,C.A.
  TITLE     A cDNA for a protein that interacts with the human immunodeficiency
            virus Tat transactivator
  JOURNAL   Science 248 (4963), 1650-1653 (1990)
   PUBMED   2194290
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090559.7.
            
            On Jun 23, 2020 this sequence version replaced NM_002804.4.
            
            Summary: The 26S proteasome is a multicatalytic proteinase complex
            with a highly ordered structure composed of 2 complexes, a 20S core
            and a 19S regulator. The 20S core is composed of 4 rings of 28
            non-identical subunits; 2 rings are composed of 7 alpha subunits
            and 2 rings are composed of 7 beta subunits. The 19S regulator is
            composed of a base, which contains 6 ATPase subunits and 2
            non-ATPase subunits, and a lid, which contains up to 10 non-ATPase
            subunits. Proteasomes are distributed throughout eukaryotic cells
            at a high concentration and cleave peptides in an
            ATP/ubiquitin-dependent process in a non-lysosomal pathway. An
            essential function of a modified proteasome, the immunoproteasome,
            is the processing of class I MHC peptides. This gene encodes one of
            the ATPase subunits, a member of the triple-A family of ATPases
            that have chaperone-like activity. This subunit may compete with
            PSMC2 for binding to the HIV tat protein to regulate the
            interaction between the viral protein and the transcription
            complex. A pseudogene has been identified on chromosome 9.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC073165.1, AK291896.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298852.8/ ENSP00000298852.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-235               AC090559.7         50677-50911         c
            236-319             AC090559.7         50339-50422         c
            320-445             AC090559.7         49593-49718         c
            446-550             AC090559.7         49079-49183         c
            551-613             AC090559.7         48901-48963         c
            614-751             AC090559.7         48518-48655         c
            752-895             AC090559.7         47302-47445         c
            896-1044            AC090559.7         47046-47194         c
            1045-1141           AC090559.7         45103-45199         c
            1142-1287           AC090559.7         44736-44881         c
            1288-1369           AC090559.7         43588-43669         c
            1370-1540           AC090559.7         43247-43417         c
FEATURES             Location/Qualifiers
     source          1..1540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..1540
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /note="proteasome 26S subunit, ATPase 3"
                     /db_xref="GeneID:5702"
                     /db_xref="HGNC:HGNC:9549"
                     /db_xref="MIM:186852"
     exon            1..235
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             161..1480
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /note="Tat-binding protein 1; proteasome subunit P50;
                     human immunodeficiency virus tat transactivator binding
                     protein-1; 26S protease regulatory subunit 6A; testicular
                     secretory protein Li 42; 26S proteasome AAA-ATPase subunit
                     RPT5; proteasome (prosome, macropain) 26S subunit, ATPase,
                     3"
                     /codon_start=1
                     /product="26S proteasome regulatory subunit 6A"
                     /protein_id="NP_002795.2"
                     /db_xref="CCDS:CCDS7935.1"
                     /db_xref="GeneID:5702"
                     /db_xref="HGNC:HGNC:9549"
                     /db_xref="MIM:186852"
                     /translation="MNLLPNIESPVTRQEKMATVWDEAEQDGIGEEVLKMSTEEIIQR
                     TRLLDSEIKIMKSEVLRVTHELQAMKDKIKENSEKIKVNKTLPYLVSNVIELLDVDPN
                     DQEEDGANIDLDSQRKGKCAVIKTSTRQTYFLPVIGLVDAEKLKPGDLVGVNKDSYLI
                     LETLPTEYDSRVKAMEVDERPTEQYSDIGGLDKQIQELVEAIVLPMNHKEKFENLGIQ
                     PPKGVLMYGPPGTGKTLLARACAAQTKATFLKLAGPQLVQMFIGDGAKLVRDAFALAK
                     EKAPSIIFIDELDAIGTKRFDSEKAGDREVQRTMLELLNQLDGFQPNTQVKVIAATNR
                     VDILDPALLRSGRLDRKIEFPMPNEEARARIMQIHSRKMNVSPDVNYEELARCTDDFN
                     GAQCKAVCVEAGMIALRRGATELTHEDYMEGILEVQAKKKANLQYYA"
     exon            236..319
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            320..445
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            446..550
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            551..613
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            614..751
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            752..895
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1044
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1141
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1287
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1369
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1540
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1520..1525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /note="hexamer: AATAAA"
     polyA_site      1540
                     /gene="PSMC3"
                     /gene_synonym="DCIDP; RPT5; TBP1"
                     /note="major polyA site"
ORIGIN      
        1 agattcgctg ctccgcagca cggccggagc tggtcgggtc aagagtcggg atttgtgggg
       61 agaggttttc cactggtcaa gagaaggctt taagaaagac ggtattaatc tcccgttgcg
      121 gctcccgcct ggtcccatct tctgcccgct cctccaggaa atgaatctgc tgccgaatat
      181 tgagagtcca gtgactcggc aggagaagat ggcgaccgtg tgggatgagg ccgagcaaga
      241 tggaattggg gaggaggtgc tcaagatgtc cacggaggag atcatccagc gcacacggct
      301 gctggacagt gagatcaaga tcatgaagag tgaagtgttg agagtcaccc atgagctcca
      361 agccatgaag gacaagataa aagagaacag tgagaaaatc aaagtgaaca agaccctgcc
      421 gtaccttgtc tccaacgtca tcgagctcct ggatgttgat cctaatgacc aagaggagga
      481 tggtgccaat attgacctgg actcccagag gaagggcaag tgtgctgtga tcaaaacctc
      541 tacacgacag acgtacttcc ttcctgtgat tgggttggtg gatgctgaaa agctaaagcc
      601 aggagacctg gtgggtgtga acaaagactc ctatctgatc ctggagacgc tgcccacaga
      661 gtatgactcg cgggtgaagg ccatggaggt agacgagagg cccacggagc aatacagtga
      721 cattgggggt ttggacaagc agatccagga gctggtggag gccattgtct tgccaatgaa
      781 ccacaaggag aagtttgaga acttggggat ccaacctcca aaaggggtgc tgatgtatgg
      841 gcccccaggg acggggaaga ccctcctggc ccgggcctgt gccgcacaga ctaaggccac
      901 cttcctaaag ctggctggcc cccagctggt gcagatgttc attggagatg gtgccaagct
      961 agtccgggat gcctttgccc tggccaagga gaaagcgccc tctatcatct tcattgatga
     1021 gttggatgcc atcggcacca agcgctttga cagtgagaag gctggggacc gggaggtgca
     1081 gaggacaatg ctggagcttc tgaaccagct ggatggcttc cagcccaaca cccaagttaa
     1141 ggtaattgca gccacaaaca gggtggacat cctggacccc gccctcctcc gctcgggccg
     1201 ccttgaccgc aagatagagt tcccgatgcc caatgaggag gcccgggcca gaatcatgca
     1261 gatccactcc cgaaagatga atgtcagtcc tgacgtgaac tacgaggagc tggcccgctg
     1321 cacagatgac ttcaatgggg cccagtgcaa ggctgtgtgt gtggaggcgg gcatgatcgc
     1381 actgcgcagg ggtgccacgg agctcaccca cgaggactac atggaaggca tcctggaggt
     1441 gcaggccaag aagaaagcca acctacaata ctacgcctag ggcacacagg ccagccccag
     1501 tctcacggct gaagtgcgca ataaaagatg gtttagggtc
//
