2024-03-28 18:52:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278709 2644 bp mRNA linear PRI 11-JUL-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), transcript variant 3, mRNA. ACCESSION NM_001278709 VERSION NM_001278709.1 GI:523425735 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 2644) AUTHORS Matsuyama Y, Suzuki M, Arima C, Huang QM, Tomida S, Takeuchi T, Sugiyama R, Itoh Y, Yatabe Y, Goto H and Takahashi T. TITLE Proteasomal non-catalytic subunit PSMD2 as a potential therapeutic target in association with various clinicopathologic features in lung adenocarcinomas JOURNAL Mol. Carcinog. 50 (4), 301-309 (2011) PUBMED 21465578 REMARK GeneRIF: Results suggest that PSMD2 may be a good molecular target candidate. REFERENCE 2 (bases 1 to 2644) AUTHORS Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S and Nebel A. TITLE Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010) PUBMED 20800603 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 2644) AUTHORS Ikeda Y, Demartino GN, Brown MS, Lee JN, Goldstein JL and Ye J. TITLE Regulated endoplasmic reticulum-associated degradation of a polytopic protein: p97 recruits proteasomes to Insig-1 before extraction from membranes JOURNAL J. Biol. Chem. 284 (50), 34889-34900 (2009) PUBMED 19815544 REMARK GeneRIF: These data suggest that p97 recruits proteasomes to polytopic ER proteins, such as Insig-1, even before they are extracted from membranes. REFERENCE 4 (bases 1 to 2644) AUTHORS Smith L, Qutob O, Watson MB, Beavis AW, Potts D, Welham KJ, Garimella V, Lind MJ, Drew PJ and Cawkwell L. TITLE Proteomic identification of putative biomarkers of radiotherapy resistance: a possible role for the 26S proteasome? JOURNAL Neoplasia 11 (11), 1194-1207 (2009) PUBMED 19881955 REMARK GeneRIF: the 26S proteasome may provide a general predictive biomarker for radiotherapy outcome. REFERENCE 5 (bases 1 to 2644) AUTHORS Djakovic SN, Schwarz LA, Barylko B, DeMartino GN and Patrick GN. TITLE Regulation of the proteasome by neuronal activity and calcium/calmodulin-dependent protein kinase II JOURNAL J. Biol. Chem. 284 (39), 26655-26665 (2009) PUBMED 19638347 REMARK GeneRIF: Data show that data provide a novel mechanism whereby CaMKII may regulate the proteasome in neurons to facilitate remodeling of synaptic connections through protein degradation. REFERENCE 6 (bases 1 to 2644) 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 7 (bases 1 to 2644) AUTHORS Tsurumi C, Shimizu Y, Saeki M, Kato S, Demartino GN, Slaughter CA, Fujimuro M, Yokosawa H, Yamasaki M, Hendil KB, Toh-e A, Tanahashi N and Tanaka K. TITLE cDNA cloning and functional analysis of the p97 subunit of the 26S proteasome, a polypeptide identical to the type-1 tumor-necrosis-factor-receptor-associated protein-2/55.11 JOURNAL Eur. J. Biochem. 239 (3), 912-921 (1996) PUBMED 8774743 REFERENCE 8 (bases 1 to 2644) AUTHORS Coux O, Tanaka K and Goldberg AL. 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 2644) AUTHORS Song HY and Donner DB. TITLE Association of a RING finger protein with the cytoplasmic domain of the human type-2 tumour necrosis factor receptor JOURNAL Biochem. J. 309 (PT 3), 825-829 (1995) PUBMED 7639698 REFERENCE 10 (bases 1 to 2644) AUTHORS Boldin MP, Mett IL and Wallach D. TITLE A protein related to a proteasomal subunit binds to the intracellular domain of the p55 TNF receptor upstream to its 'death domain' JOURNAL FEBS Lett. 367 (1), 39-44 (1995) PUBMED 7601280 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK302177.1, AK301759.1, BC002997.1 and AI026024.1. 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 non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct N-terminus compared to 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 :: AK302177.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-675 AK302177.1 1-675 676-745 AK301759.1 689-758 746-2488 AK302177.1 746-2488 2489-2624 BC002997.1 2774-2909 2625-2644 AI026024.1 1-20 c FEATURES Location/Qualifiers source 1..2644 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q27.1" gene 1..2644 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /note="proteasome (prosome, macropain) 26S subunit, non-ATPase, 2" /db_xref="GeneID:5708" /db_xref="HGNC:9559" /db_xref="MIM:606223" exon 1..105 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 106..227 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" misc_feature 179..181 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /note="upstream in-frame stop codon" CDS 215..2464 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /note="isoform 3 is encoded by transcript variant 3; TNFR-associated protein 2; 55.11 protein; 26S proteasome non-ATPase regulatory subunit 2; protein 55.11; tumor necrosis factor type 1 receptor-associated protein 2" /codon_start=1 /product="26S proteasome non-ATPase regulatory subunit 2 isoform 3" /protein_id="NP_001265638.1" /db_xref="GI:523425736" /db_xref="GeneID:5708" /db_xref="HGNC:9559" /db_xref="MIM:606223" /translation="
MSMSGEVAKEWQELDDAEKVQREPLLTLVKEIVPYNMAHNAEHEACDLLMEIEQVDMLEKDIDENAYAKVCLYLTSCVNYVPEPENSALLRCALGVFRKFSRFPEALRLALMLNDMELVEDIFTSCKDVVVQKQMAFMLGRHGVFLELSEDVEEYEDLTEIMSNVQLNSNFLALARELDIMEPKVPDDIYKTHLENNRFGGSGSQVDSARMNLASSFVNGFVNAAFGQDKLLTDDGNKWLYKNKDHGMLSAAASLGMILLWDVDGGLTQIDKYLYSSEDYIKSGALLACGIVNSGVRNECDPALALLSDYVLHNSNTMRLGSIFGLGLAYAGSNREDVLTLLLPVMGDSKSSMEVAGVTALACGMIAVGSCNGDVTSTILQTIMEKSETELKDTYARWLPLGLGLNHLGKGEAIEAILAALEVVSEPFRSFANTLVDVCAYAGSGNVLKVQQLLHICSEHFDSKEKEEDKDKKEKKDKDKKEAPADMGAHQGVAVLGIALIAMGEEIGAEMALRTFGHLLRYGEPTLRRAVPLALALISVSNPRLNILDTLSKFSHDADPEVSYNSIFAMGMVGSGTNNARLAAMLRQLAQYHAKDPNNLFMVRLAQGLTHLGKGTLTLCPYHSDRQLMSQVAVAGLLTVLVSFLDVRNIILGKSHYVLYGLVAAMQPRMLVTFDEELRPLPVSVRVGQAVDVVGQAGKPKTITGFQTHTTPVLLAHGERAELATEEFLPVTPILEGFVILRKNPNYDL
" exon 228..441 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 442..600 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 601..745 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 746..806 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 807..953 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 954..1060 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1061..1188 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1189..1276 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1277..1439 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1440..1541 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" STS 1477..1604 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /standard_name="RH70376" /db_xref="UniSTS:73065" exon 1542..1687 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1688..1771 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1772..1940 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 1941..2035 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 2036..2162 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" exon 2163..2281 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" STS 2184..2404 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /standard_name="T03659" /db_xref="UniSTS:14455" exon 2282..2628 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /inference="alignment:Splign:1.39.8" STS 2391..2549 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /standard_name="RH65279" /db_xref="UniSTS:84197" STS 2400..2582 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" /standard_name="G62053" /db_xref="UniSTS:139161" polyA_signal 2604..2609 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" polyA_site 2628 /gene="PSMD2" /gene_synonym="P97; RPN1; S2; TRAP2" ORIGIN
aaaatatctacagaagagctgaaaggaaggtcagcttctcagaagacactgtttctgtcatgtgtattggactttggggtttcattagcatggtctacttttaaccgttttgctgctgacatcatctccgttttggccatgaccatgagtggggagcgtgagtgcctcaagtatcggctagtgggctcccaggaggaattggcatcatggggtcatgagtatgtcaggagaagtggctaaggagtggcaggagctggatgacgcagagaaggtccagcgggagcctctgctcactctggtgaaggaaatcgtcccctataacatggcccacaatgcagagcatgaggcttgcgacctgcttatggaaattgagcaggtggacatgctggagaaggacattgatgaaaatgcatatgcaaaggtctgcctttatctcaccagttgtgtgaattacgtgcctgagcctgagaactcagccctactgcgttgtgccctgggtgtgttccgaaagtttagccgcttccctgaagctctgagattggcattgatgctcaatgacatggagttggtagaagacatcttcacctcctgcaaggatgtggtagtacagaaacagatggcattcatgctaggccggcatggggtgttcctggagctgagtgaagatgtcgaggagtatgaggacctgacagagatcatgtccaatgtacagctcaacagcaacttcttggccttagctcgggagctggacatcatggagcccaaggtgcctgatgacatctacaaaacccacctagagaacaacaggtttgggggcagtggctctcaggtggactctgcccgcatgaacctggcctcctcttttgtgaatggctttgtgaatgcagcttttggccaagacaagctgctaacagatgatggcaacaaatggctttacaagaacaaggaccacggaatgttgagtgcagctgcatctcttgggatgattctgctgtgggatgtggatggtggcctcacccagattgacaagtacctgtactcctctgaggactacattaagtcaggagctcttcttgcctgtggcatagtgaactctggggtccggaatgagtgtgaccctgctctggcactgctctcagactatgttctccacaacagcaacaccatgagacttggttccatctttgggctaggcttggcttatgctggctcaaatcgtgaagatgtcctaacactgctgctgcctgtgatgggagattcaaagtccagcatggaggtggcaggtgtcacagctttagcctgtggaatgatagcagtagggtcctgcaatggagatgtaacttccactatccttcagaccatcatggagaagtcagagactgagctcaaggatacttatgctcgttggcttcctcttggactgggtctcaaccacctggggaagggtgaggccatcgaggcaatcctggctgcactggaggttgtgtcagagccattccgcagttttgccaacacactggtggatgtgtgtgcatatgcaggctctgggaatgtgctgaaggtgcagcagctgctccacatttgtagcgaacactttgactccaaagagaaggaggaagacaaagacaagaaggaaaagaaagacaaggacaagaaggaagcccctgctgacatgggagcacatcagggagtggctgttctggggattgcccttattgctatgggggaggagattggtgcagagatggcattacgaacctttggccacttgctgagatatggggagcctacactccggagggctgtacctttagcactggccctcatctctgtttcaaatccacgactcaacatcctggataccctaagcaaattctctcatgatgctgatccagaagtttcctataactccatttttgccatgggcatggtgggcagtggtaccaataatgcccgtctggctgcaatgctgcgccagttagctcaatatcatgccaaggacccaaacaacctcttcatggtgcgcttggcacagggcctgacacatttagggaagggcacccttaccctctgcccctaccacagcgaccggcagcttatgagccaggtggccgtggctggactgctcactgtgcttgtctctttcctggatgttcgaaacattattctaggcaaatcacactatgtattgtatgggctggtggctgccatgcagccccgaatgctggttacgtttgatgaggagctgcggccattgccagtgtctgtccgtgtgggccaggcagtggatgtggtgggccaggctggcaagccgaagactatcacagggttccagacgcatacaaccccagtgttgttggcccacggggaacgggcagaattggccactgaggagtttcttcctgttacccccattctggaaggttttgttatccttcggaagaaccccaattatgatctctaagtgaccaccaggggctctgaactgcagctgatgttatcagcaggccatgcatcctgctgccaagggtggacacggctgcagacttctgggggaattgtcgcctcctgctcttttgttactgagtgagataaggttgttcaataaagacttttatccccaaggtcaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5708 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5708 -> Molecular function: GO:0030234 [enzyme regulator activity] evidence: IEA GeneID:5708 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5708 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5708 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5708 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5708 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5708 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5708 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5708 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5708 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5708 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0042176 [regulation of protein catabolic process] evidence: IEA GeneID:5708 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5708 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5708 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5708 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5708 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5708 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5708 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5708 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5708 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5708 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5708 -> Cellular component: GO:0005838 [proteasome regulatory particle] evidence: TAS GeneID:5708 -> Cellular component: GO:0022624 [proteasome accessory complex] evidence: ISS
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