2024-04-24 16:24:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001025096 1827 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 2, mRNA. ACCESSION NM_001025096 VERSION NM_001025096.1 GI:68303562 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 1827) AUTHORS Nusbaum,C., Zody,M.C., Borowsky,M.L., Kamal,M., Kodira,C.D., Taylor,T.D., Whittaker,C.A., Chang,J.L., Cuomo,C.A., Dewar,K., FitzGerald,M.G., Yang,X., Abouelleil,A., Allen,N.R., Anderson,S., Bloom,T., Bugalter,B., Butler,J., Cook,A., DeCaprio,D., Engels,R., Garber,M., Gnirke,A., Hafez,N., Hall,J.L., Norman,C.H., Itoh,T., Jaffe,D.B., Kuroki,Y., Lehoczky,J., Lui,A., Macdonald,P., Mauceli,E., Mikkelsen,T.S., Naylor,J.W., Nicol,R., Nguyen,C., Noguchi,H., O'Leary,S.B., O'Neill,K., Piqani,B., Smith,C.L., Talamas,J.A., Topham,K., Totoki,Y., Toyoda,A., Wain,H.M., Young,S.K., Zeng,Q., Zimmer,A.R., Fujiyama,A., Hattori,M., Birren,B.W., Sakaki,Y. and Lander,E.S. TITLE DNA sequence and analysis of human chromosome 18 JOURNAL Nature 437 (7058), 551-555 (2005) PUBMED 16177791 REMARK Erratum:[Nature. 2005 Dec 1;438(7068):696. O'Neill, Keith [added]] REFERENCE 2 (bases 1 to 1827) AUTHORS Margottin-Goguet,F., Hsu,J.Y., Loktev,A., Hsieh,H.M., Reimann,J.D. and Jackson,P.K. TITLE Prophase destruction of Emi1 by the SCF(betaTrCP/Slimb) ubiquitin ligase activates the anaphase promoting complex to allow progression beyond prometaphase JOURNAL Dev. Cell 4 (6), 813-826 (2003) PUBMED 12791267 REFERENCE 3 (bases 1 to 1827) AUTHORS Claverol,S., Burlet-Schiltz,O., Girbal-Neuhauser,E., Gairin,J.E. and Monsarrat,B. TITLE Mapping and structural dissection of human 20 S proteasome using proteomic approaches JOURNAL Mol. Cell Proteomics 1 (8), 567-578 (2002) PUBMED 12376572 REMARK GeneRIF: This article provides an overview of some of the components in the human 20 S proteasome. REFERENCE 4 (bases 1 to 1827) AUTHORS Geley,S., Kramer,E., Gieffers,C., Gannon,J., Peters,J.M. and Hunt,T. TITLE Anaphase-promoting complex/cyclosome-dependent proteolysis of human cyclin A starts at the beginning of mitosis and is not subject to the spindle assembly checkpoint JOURNAL J. Cell Biol. 153 (1), 137-148 (2001) PUBMED 11285280 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC042820.1 and BC025393.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2). ##Evidence-Data-START## Transcript exon combination :: BC042820.1, BX365676.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1279 BC042820.1 1-1279 1280-1827 BC025393.1 1154-1701 FEATURES Location/Qualifiers source 1..1827 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q11.2" gene 1..1827 /gene="PSMA8" /gene_synonym="PSMA7L" /note="proteasome (prosome, macropain) subunit, alpha type, 8" /db_xref="GeneID:143471" /db_xref="HGNC:22985" /db_xref="HPRD:11322" exon 1..216 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 20 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="g" /replace="t" /db_xref="dbSNP:79042990" variation 60 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:76463276" variation 70 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:375979811" variation 76 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:367810883" variation 87 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="g" /db_xref="dbSNP:199655437" misc_feature 103..105 /gene="PSMA8" /gene_synonym="PSMA7L" /note="upstream in-frame stop codon" variation 103 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:369422702" variation 113 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="c" /db_xref="dbSNP:367607416" CDS 115..867 /gene="PSMA8" /gene_synonym="PSMA7L" /EC_number="3.4.25.1" /note="isoform 2 is encoded by transcript variant 2" /codon_start=1 /product="proteasome subunit alpha type-7-like isoform 2" /protein_id="NP_001020267.1" /db_xref="GI:68303563" /db_xref="CCDS:CCDS45842.1" /db_xref="GeneID:143471" /db_xref="HGNC:22985" /db_xref="HPRD:11322" /translation="
MASRYDRAITVFSPDGHLFQVEYAQEAVKKGSTAVGIRGTNIVVLGVEKKSVAKLQDERTVRKICALDDHVCMAFAGLTADARVVINRARVECQSHKLTVEDPVTVEYITRFIATLKQKYTQSNGRRPFGISALIVGFDDDGISRLYQTDPSGTYHAWKANAIGRSAKTVREFLEKNYTEDAIASDSEAIKLAIKALLEVVQSGGKNIELAIIRRNQPLKMFSAKEVELYVTEIEKEKEEAEKKKSKKSV
" misc_feature 127..807 /gene="PSMA8" /gene_synonym="PSMA7L" /note="proteasome subunit alpha; Provisional; Region: PRK03996" /db_xref="CDD:179701" misc_feature 127..753 /gene="PSMA8" /gene_synonym="PSMA7L" /note="proteasome_alpha_type_7. The 20S proteasome, multisubunit proteolytic complex, is the central enzyme of nonlysosomal protein degradation in both the cytosol and nucleus. It is composed of 28 subunits arranged as four homoheptameric rings that stack on...; Region: proteasome_alpha_type_7; cd03755" /db_xref="CDD:48453" misc_feature order(133..144,148..153,157..162,172..174,181..183, 190..195,202..204,226..228,271..273,277..282,349..357, 361..366,457..459,466..468,475..480,487..501,553..555, 568..573,577..579,583..588,592..594) /gene="PSMA8" /gene_synonym="PSMA7L" /note="alpha subunit interaction site [polypeptide binding]; other site" /db_xref="CDD:48453" misc_feature order(208..210,256..258,262..264,301..303,607..609) /gene="PSMA8" /gene_synonym="PSMA7L" /note="active site" /db_xref="CDD:48453" variation 133 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:371585912" exon 217..343 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 226 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="c" /db_xref="dbSNP:376403017" variation 227 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:369017941" variation 240 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:373058718" variation 254 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:147712923" variation 282 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:376606262" variation 314 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:370769323" variation 342 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:142644405" exon 344..468 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 383 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:146900756" variation 411 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:138692405" variation 418 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:141138094" variation 419 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:150332181" variation 431 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:137990346" variation 446 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:371854509" variation 454 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:375557530" variation 462 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:369804246" exon 469..591 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 485 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:377524722" variation 510 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:149476347" variation 536 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:371109228" variation 557 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:201810632" variation 563 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:200739878" variation 580 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="g" /db_xref="dbSNP:200476943" exon 592..711 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 605 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="g" /db_xref="dbSNP:146000809" variation 610 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:370534304" variation 625 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:139896833" variation 626 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:141896498" variation 685 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:146272213" variation 706 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:148724967" exon 712..774 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 725 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:142265503" variation 731 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:17852261" exon 775..1811 /gene="PSMA8" /gene_synonym="PSMA7L" /inference="alignment:Splign:1.39.8" variation 784 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="g" /replace="t" /db_xref="dbSNP:145392373" STS 822..1106 /gene="PSMA8" /gene_synonym="PSMA7L" /standard_name="SHGC-82018" /db_xref="UniSTS:102988" variation 823 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="g" /replace="t" /db_xref="dbSNP:17852262" variation 886 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="g" /db_xref="dbSNP:201321706" variation 946 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="" /replace="a" /db_xref="dbSNP:368685303" variation 982 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="g" /replace="t" /db_xref="dbSNP:138505570" variation 1065 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="g" /db_xref="dbSNP:2069310" variation 1178 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:192674845" polyA_signal 1253..1258 /gene="PSMA8" /gene_synonym="PSMA7L" polyA_site 1280 /gene="PSMA8" /gene_synonym="PSMA7L" /experiment="experimental evidence, no additional details recorded" variation 1433 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:3794196" variation 1607 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="t" /db_xref="dbSNP:368290560" variation 1615 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:184708358" variation 1675 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="c" /replace="t" /db_xref="dbSNP:189047996" variation 1745 /gene="PSMA8" /gene_synonym="PSMA7L" /replace="a" /replace="g" /db_xref="dbSNP:181678938" polyA_signal 1791..1796 /gene="PSMA8" /gene_synonym="PSMA7L" polyA_site 1811 /gene="PSMA8" /gene_synonym="PSMA7L" /experiment="experimental evidence, no additional details recorded" ORIGIN
gaggcgcgtgtggaagcgcttccgggcggtagcacgctgtgttggcggcggctccccgcttgcctcagctgcagcagcgggaagctcggtggcaagcccttgtagtcctgtgcgatggcgtctcgatatgacagggcgatcactgtcttctccccagacggacacctttttcaagttgaatatgcccaggaagcggtgaagaaaggatccaccgcggtcggaattcgaggtaccaatatagttgttcttggggtagaaaaaaaatctgttgccaagcttcaagatgaaagaactgtgaggaaaatttgtgcccttgatgaccatgtctgcatggcttttgcaggacttactgctgatgctagagtagtaataaacagagcccgtgtggagtgccagagccataagcttacggttgaggacccagtcactgtagaatacataactcgcttcatagcaactttaaagcagaaatatacccaaagcaatggacgaagaccttttggtatttctgccttaattgtaggttttgatgatgatggtatctcaagattgtatcagacagatccttctggtacttatcatgcttggaaggcaaatgcaataggccgaagtgctaaaactgttcgagaatttctagaaaagaattacacagaagatgccatagcaagtgacagtgaagctatcaagttagcaataaaagctttgctagaagttgtccagtctggtggaaaaaacattgaacttgctataataagaagaaatcaacctttgaagatgtttagtgcaaaagaagttgaattatatgtaactgaaatagaaaaggaaaaggaagaagcagagaagaaaaaatcaaagaaatctgtctaattcttaggatgaccactgggaggtcttaatgttttgttttattgtactgcctgaggttgtttagtgaaattttagaggaaaacagttattttgcagcattacatgcagtacttgtgtgatgttttgagaatgccagatctgtggctgtcttcattctattacatagtcaaacataggtttatgtgaagattttctttgaaaggggatttcagtaattgttgagagcagtcataattccacataagcctgagactctataatttgtccagtgtcttacttaccttcatatatgcaaatataattttaaaaaattttttaattaaaaaaatttaataatttggtgatgtttgaatattgactgtcagttaaggacatagctattccaaataaactaaatataatattgagctgcatttctcaaagaatgacaaaagcatccttatactgatgagttcttaaaattttgtcagagccttcttcattttacaatattttgttatttttattttacctttttcattttacaatatttcgttatttttattttacctttttcattttacaagttgcaatatattgtttcgttcatggaacaaatataggctgaattcaaacatgcaattaaagcatgggaagagcttctaagggcatcttaacaggatgctacatgaaaataaggaaagaaattaatacatatcacttttagtttagatttttattttatctcaagtatgtccagtgtgttcggtttgttacatattccatgaaatatctgagtgtgtattttatgattggtattatggaaggcttattgggggaacaagaaaaatataaaaagtgatctctgcccacggaaaggatttaatccaaatggtccacaagaggaatgtgcttaattcctacagtgagtttatatttttgaaaataaaagctagtaaatattcaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:143471 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:143471 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:143471 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:143471 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:143471 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:143471 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:143471 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:143471 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:143471 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:143471 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:143471 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:143471 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:143471 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:143471 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:143471 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:143471 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:143471 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:143471 -> Cellular component: GO:0019773 [proteasome core complex, alpha-subunit complex] evidence: IEA GeneID:143471 -> Cellular component: GO:1990111 [spermatoproteasome complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001020267 -> EC 3.4.25.1
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