LOCUS       NM_002802               4390 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens proteasome 26S subunit, ATPase 1 (PSMC1), transcript
            variant 1, mRNA.
ACCESSION   NM_002802
VERSION     NM_002802.3
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 4390)
  AUTHORS   Aharoni,S., Proskorovski-Ohayon,R., Krishnan,R.K., Yogev,Y.,
            Wormser,O., Hadar,N., Bakhrat,A., Alshafee,I., Gombosh,M., Agam,N.,
            Gradstein,L., Shorer,Z., Zarivach,R., Eskin-Schwartz,M., Abdu,U.
            and Birk,O.S.
  TITLE     PSMC1 variant causes a novel neurological syndrome
  JOURNAL   Clin Genet 102 (4), 324-332 (2022)
   PUBMED   35861243
  REMARK    GeneRIF: PSMC1 variant causes a novel neurological syndrome.
REFERENCE   2  (bases 1 to 4390)
  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 4390)
  AUTHORS   Zhong,X.L., Qian,B.P., Huang,J.C., Zhao,S.Z., Li,Y. and Qiu,Y.
  TITLE     Low expression of TCP1 (T-Complex 1) and PSMC1 (Proteasome 26S
            subunit, ATPase 1) in heterotopic ossification during ankylosing
            spondylitis
  JOURNAL   Bioengineered 12 (1), 7459-7469 (2021)
   PUBMED   34612770
  REMARK    GeneRIF: Low expression of TCP1 (T-Complex 1) and PSMC1 (Proteasome
            26S subunit, ATPase 1) in heterotopic ossification during
            ankylosing spondylitis.
REFERENCE   4  (bases 1 to 4390)
  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 4390)
  AUTHORS   Eno,C.C., Graakjaer,J., Svaneby,D., Nizon,M., Kianmahd,J.,
            Signer,R., Martinez-Agosto,J.A. and Quintero-Rivera,F.
  TITLE     14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5:
            A new potential cause of developmental and language delay in three
            unrelated patients
  JOURNAL   Am J Med Genet A 185 (5), 1519-1524 (2021)
   PUBMED   33634591
  REMARK    GeneRIF: 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and
            RPS6KA5: A new potential cause of developmental and language delay
            in three unrelated patients.
REFERENCE   6  (bases 1 to 4390)
  AUTHORS   Berezutskaya,E. and Bagchi,S.
  TITLE     The human papillomavirus E7 oncoprotein functionally interacts with
            the S4 subunit of the 26 S proteasome
  JOURNAL   J Biol Chem 272 (48), 30135-30140 (1997)
   PUBMED   9374493
REFERENCE   7  (bases 1 to 4390)
  AUTHORS   Seeger,M., Ferrell,K., Frank,R. and Dubiel,W.
  TITLE     HIV-1 tat inhibits the 20 S proteasome and its 11 S
            regulator-mediated activation
  JOURNAL   J Biol Chem 272 (13), 8145-8148 (1997)
   PUBMED   9079628
REFERENCE   8  (bases 1 to 4390)
  AUTHORS   Coux,O., Tanaka,K. and Goldberg,A.L.
  TITLE     Structure and functions of the 20S and 26S proteasomes
  JOURNAL   Annu Rev Biochem 65, 801-847 (1996)
   PUBMED   8811196
  REMARK    Review article
REFERENCE   9  (bases 1 to 4390)
  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 4390)
  AUTHORS   Winkelmann,D.A. and Kahan,L.
  TITLE     Immunochemical accessibility of ribosomal protein S4 in the 30 S
            ribosome. The interaction of S4 with S5 and S12
  JOURNAL   J Mol Biol 165 (2), 357-374 (1983)
   PUBMED   6188845
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355074.5 and AL161662.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_002802.2.
            
            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
            which have a chaperone-like activity. This subunit and a 20S core
            alpha subunit interact specifically with the hepatitis B virus X
            protein, a protein critical to viral replication. This subunit also
            interacts with the adenovirus E1A protein and this interaction
            alters the activity of the proteasome. Finally, this subunit
            interacts with ataxin-7, suggesting a role for the proteasome in
            the development of spinocerebellar ataxia type 7, a progressive
            neurodegenerative disorder. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR1163657.276463.1,
                                           SRR1660807.103291.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261303.13/ ENSP00000261303.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                AL355074.5         168009-168056
            49-102              AL355074.5         170616-170669
            103-199             AL355074.5         171571-171667
            200-324             AL355074.5         174774-174898
            325-510             AL355074.5         175118-175303
            511-639             AL355074.5         175497-175625
            640-736             AL355074.5         176526-176622
            737-926             AL355074.5         179680-179869
            927-1078            AL355074.5         180853-181004
            1079-1233           AL161662.6         85269-85423
            1234-4390           AL161662.6         87344-90500
FEATURES             Location/Qualifiers
     source          1..4390
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.11"
     gene            1..4390
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="proteasome 26S subunit, ATPase 1"
                     /db_xref="GeneID:5700"
                     /db_xref="HGNC:HGNC:9547"
                     /db_xref="MIM:602706"
     exon            1..48
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1368
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="isoform a is encoded by transcript variant 1; 26S
                     protease regulatory subunit 4; proteasome 26S ATPase
                     subunit 1; 26S proteasome AAA-ATPase subunit RPT2;
                     proteasome (prosome, macropain) 26S subunit, ATPase, 1;
                     26S proteasome regulatory subunit 4"
                     /codon_start=1
                     /product="26S proteasome regulatory subunit 4 isoform a"
                     /protein_id="NP_002793.2"
                     /db_xref="CCDS:CCDS32139.1"
                     /db_xref="GeneID:5700"
                     /db_xref="HGNC:HGNC:9547"
                     /db_xref="MIM:602706"
                     /translation="MGQSQSGGHGPGGGKKDDKDKKKKYEPPVPTRVGKKKKKTKGPD
                     AASKLPLVTPHTQCRLKLLKLERIKDYLLMEEEFIRNQEQMKPLEEKQEEERSKVDDL
                     RGTPMSVGTLEEIIDDNHAIVSTSVGSEHYVSILSFVDKDLLEPGCSVLLNHKVHAVI
                     GVLMDDTDPLVTVMKVEKAPQETYADIGGLDNQIQEIKESVELPLTHPEYYEEMGIKP
                     PKGVILYGPPGTGKTLLAKAVANQTSATFLRVVGSELIQKYLGDGPKLVRELFRVAEE
                     HAPSIVFIDEIDAIGTKRYDSNSGGEREIQRTMLELLNQLDGFDSRGDVKVIMATNRI
                     ETLDPALIRPGRIDRKIEFPLPDEKTKKRIFQIHTSRMTLADDVTLDDLIMAKDDLSG
                     ADIKAICTEAGLMALRERRMKVTNEDFKKSKENVLYKKQEGTPEGLYL"
     exon            49..102
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            103..199
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            200..324
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            325..510
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            511..639
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            640..736
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            737..926
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1078
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1233
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..4390
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1562..1567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="hexamer: AATAAA"
     polyA_site      1587
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="major polyA site"
     regulatory      1808..1813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="hexamer: AATAAA"
     polyA_site      1847
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
     regulatory      4368..4373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
                     /note="hexamer: ATTAAA"
     polyA_site      4390
                     /gene="PSMC1"
                     /gene_synonym="NEDGTH; P26S4; p56; RPT2; S4"
ORIGIN      
        1 ggtggaggaa cttccggcag cggcagctca agtggccaag gcaagatggg tcaaagtcag
       61 agtggtggtc atggtcctgg aggtggcaag aaggatgaca aggacaagaa aaagaaatat
      121 gaacctcctg taccaactag agtggggaaa aagaagaaga aaacaaaggg accagatgct
      181 gccagcaaac tgccactggt gacacctcac actcagtgcc ggttaaaatt actgaagtta
      241 gagagaatta aagactatct tctcatggag gaagaattca ttagaaatca ggaacaaatg
      301 aaaccattag aagaaaagca agaggaggaa agatcaaaag tggatgatct gagggggacc
      361 ccgatgtcag taggaacctt ggaagagatc attgatgaca atcatgccat cgtgtctaca
      421 tctgtgggct cagaacacta cgtcagcatt ctttcatttg tagacaagga tctgctggaa
      481 cctggctgct cggtcctgct caaccacaag gtgcatgccg tgataggggt gctgatggat
      541 gacacggatc ccctggtcac agtgatgaag gtagaaaagg ccccccagga gacctatgca
      601 gatattgggg ggttggacaa ccaaattcag gaaattaagg aatctgtgga gcttcctctc
      661 acccatcctg aatattatga agagatgggt ataaagcctc ctaagggggt cattctctat
      721 ggtccacctg gcacaggtaa aaccttgtta gccaaagcag tagcaaacca aacctcagcc
      781 actttcttga gagtggttgg ctctgaactt attcagaagt acctaggtga tgggcccaaa
      841 ctcgtacggg aattgttccg agttgctgaa gaacatgcac cgtccatcgt gtttattgat
      901 gaaattgacg ccattgggac aaaaagatat gactccaatt ctggtggtga gagagaaatt
      961 cagcgaacaa tgttggaact gctgaaccag ttggatggat ttgattctag gggagatgtg
     1021 aaagttatca tggccacaaa ccgaatagaa actttggatc cagcacttat cagaccaggc
     1081 cgcattgaca ggaagattga gttccccctg cctgatgaaa agacgaagaa gcgcatcttt
     1141 cagattcaca caagcaggat gacgctggct gatgatgtaa ccctggacga cctgatcatg
     1201 gctaaagatg acctctctgg tgctgacatc aaggcaatct gtacagaagc tggtctgatg
     1261 gccttaagag aacgtagaat gaaagtaaca aatgaagact tcaaaaaatc taaagaaaat
     1321 gttctttata agaaacagga aggcacccct gaggggctgt atctctaatg aaccatggct
     1381 gtcatcagga aaatggttgg gagatttctc aatccctgaa agggatgagg ttgggggagt
     1441 tgcccagagg aatccctgtt cccactgatt tttattagca aaacatcctg tgtcttttgg
     1501 agtacgatgt gtaagtgccc attgggtggc ctgttggtca ctgtgcagca gtctgcttcc
     1561 caataaagcg tgctctttca caaacacttc ctgtttctgc agtctccaca cacacctacc
     1621 gctcaacagc agcctgtggg tggacccagc tacagggaag cctttggaca ggaactcagg
     1681 ctgcggtccc aaggagtgtg gacctcacta tgcgttcgcc acatcacacc cccagagctg
     1741 gcgttcaacg gtaattacag tgggaaatgg tcactaccac agagccaggg atattcgttg
     1801 tttaaataat aaaggctgcg ttaatgtggc tattgcttcc aaaggaagta cagctttcct
     1861 ttttggaagt tttgtggacc atgcatgttc ttagcactct gagggcagaa aataactact
     1921 ggtgttccca agagactgag gattcctaga gatatcttga aagcccttct gagcccttgg
     1981 gctcagaaat ctcatccctt tcaaggtgtt cagaaacatg tcagaacttc cccttccctt
     2041 tctccgtcta tttccgtcat ttctctttct gaacaaatca ggcctaaagc tattaagtgg
     2101 gacagatcaa ggtaagcgtt cccttgacag gtggcctggt gtgggttgta gggcccacac
     2161 tgaatgagga gtgtgtatta gttttctgtt aatactataa caagttacca caggctttgt
     2221 ttaaaaacag cacaatttgg ccaggcacgg tggctcacgc ctgtaatccc agcactttgg
     2281 gaagctgagg caggcggatc acaaggtcag aagtttgagg ccagcctggc caacatggtg
     2341 aaaccccatc tttactaaaa atacaaaaat tagctgtgcg tggtggcagg tgcctgtagt
     2401 cccagctact caggaggctg aggcaggaca atcgcttgaa cccaggaggc ggaggttgca
     2461 gtgagccaag atcccgtcac tgcactccag cctgggcgac agagcaagac tccgtctcaa
     2521 aaataaataa ataaataaat aaaaaccaca attttatctc agttctgtag gtcagaagtc
     2581 caacacgagt gtctccaggc taaagtcttg ctgttggcag gaccgttccc tctggcgtct
     2641 ctaagggaga atccgtttcc ttgctgagga ttattgttgg cagaatttaa tttcttggag
     2701 ttgtgggcca gctgaggtca gcatttcctt gctggctgcc agctgaggcc tttgccagtc
     2761 tgtgaaggcc accctccctc ctgactcgtg gcacttcatt ttccaccagc agcagcaggc
     2821 ccagtccctc tctcccaccg acccttcttt ctgcctgcct tttctattct tatggatcct
     2881 tgtgattgca ttggacccat gcagatgatc caggataatt tccctgtttt aaagtttaca
     2941 atcttcttaa tttttatctg caaagttcct tttgccatgt aacattcaca cgttccaggg
     3001 cttagggtgt ggccatcttt aggggcgcca ctctgcctac cacagaggac atccacacgt
     3061 gggggtggcc cagtgcaggg taaggacggg gtgcttgtgg ggagggcggg tgtcagccca
     3121 agtagggtgt ggagctgtcc atgtggagga acaccacagc acggggactc agcatgggca
     3181 gggtgaggct ggcatccgtg tggggtgtat gtgcagggct ggggtggtcc gataggggga
     3241 gtcagtgtgg gcagcctgat gtgcagtatg agagcccaag tgggtgagga aggcatctgc
     3301 agggacgggg tggtggcagg ggagggaggc tgcttatgta tggaggcagt caggcaggta
     3361 aacaggacag tgggagccag gtttctctga ggagttagac acagaaagaa gaaaacaaga
     3421 acgacctctg tccactggga gcacctggga acagtgacac cccaactgca gtgagcaccc
     3481 ctagacccag acctttgctg ctaaaagtat tattctccac taaaaggagt gagggctgat
     3541 tccggggcta ggcagggaaa ggacaggatg aacccaaagt ctgttttgcc agaaagcaag
     3601 ggagtgctca aggaatgata aggacatgtc ctaaggacac cgaagcctat gtgaaggggc
     3661 ttccactggc caaactcggg acaatctgag catcctaaca aacagttact attaatggaa
     3721 tacagtatag ccctttaaat agggaactac acacacacac acacacacac acacacacac
     3781 acacacacac acacacacac cccaatacat atgaattgat ctgaaagttt gctgaggaag
     3841 gggtatttac agattttgag agtctgccac aaaacactgt tcagttagaa agggaaagtc
     3901 acactggaga tgcccagcag acaccgtctt caccaagtgg tcaaatgcac atcatcagta
     3961 atgggcactt tgaaagtacg tgccacccaa gagtgtcagt gctgtcacac tcctgccaaa
     4021 gatgcttagc ctgaatccag tgctgaggaa acaccaggca aacacaaact gaggaacatt
     4081 ctacaaattc agaacacttc aaaagtatcc acgtcttgga agtcaaaaag cttccaatca
     4141 gaaggagacc aaagagatga caaccaagtg cagctcctgc tcctgaactg gatccttttc
     4201 ctagaggaca tgactgggcc tgaggacctg ctaggagtac tgcgtccatg ctgacttcct
     4261 gttcagtgtc tgtatcgtgg gcgggtagca gactctcagc aactgactca cacggttcag
     4321 gaaacaaaat tctttgtaac gcacttgcat cttttcctaa gtttgagatt aaaaaaaaca
     4381 aaaaacccca
//
