2024-03-29 23:40:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199773 3746 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 3, mRNA. ACCESSION NM_001199773 VERSION NM_001199773.1 GI:315138982 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 3746) AUTHORS Kottgen,A., Pattaro,C., Boger,C.A., Fuchsberger,C., Olden,M., Glazer,N.L., Parsa,A., Gao,X., Yang,Q., Smith,A.V., O'Connell,J.R., Li,M., Schmidt,H., Tanaka,T., Isaacs,A., Ketkar,S., Hwang,S.J., Johnson,A.D., Dehghan,A., Teumer,A., Pare,G., Atkinson,E.J., Zeller,T., Lohman,K., Cornelis,M.C., Probst-Hensch,N.M., Kronenberg,F., Tonjes,A., Hayward,C., Aspelund,T., Eiriksdottir,G., Launer,L.J., Harris,T.B., Rampersaud,E., Mitchell,B.D., Arking,D.E., Boerwinkle,E., Struchalin,M., Cavalieri,M., Singleton,A., Giallauria,F., Metter,J., de Boer,I.H., Haritunians,T., Lumley,T., Siscovick,D., Psaty,B.M., Zillikens,M.C., Oostra,B.A., Feitosa,M., Province,M., de Andrade,M., Turner,S.T., Schillert,A., Ziegler,A., Wild,P.S., Schnabel,R.B., Wilde,S., Munzel,T.F., Leak,T.S., Illig,T., Klopp,N., Meisinger,C., Wichmann,H.E., Koenig,W., Zgaga,L., Zemunik,T., Kolcic,I., Minelli,C., Hu,F.B., Johansson,A., Igl,W., Zaboli,G., Wild,S.H., Wright,A.F., Campbell,H., Ellinghaus,D., Schreiber,S., Aulchenko,Y.S., Felix,J.F., Rivadeneira,F., Uitterlinden,A.G., Hofman,A., Imboden,M., Nitsch,D., Brandstatter,A., Kollerits,B., Kedenko,L., Magi,R., Stumvoll,M., Kovacs,P., Boban,M., Campbell,S., Endlich,K., Volzke,H., Kroemer,H.K., Nauck,M., Volker,U., Polasek,O., Vitart,V., Badola,S., Parker,A.N., Ridker,P.M., Kardia,S.L., Blankenberg,S., Liu,Y., Curhan,G.C., Franke,A., Rochat,T., Paulweber,B., Prokopenko,I., Wang,W., Gudnason,V., Shuldiner,A.R., Coresh,J., Schmidt,R., Ferrucci,L., Shlipak,M.G., van Duijn,C.M., Borecki,I., Kramer,B.K., Rudan,I., Gyllensten,U., Wilson,J.F., Witteman,J.C., Pramstaller,P.P., Rettig,R., Hastie,N., Chasman,D.I., Kao,W.H., Heid,I.M. and Fox,C.S. TITLE New loci associated with kidney function and chronic kidney disease JOURNAL Nat. Genet. 42 (5), 376-384 (2010) PUBMED 20383146 REFERENCE 2 (bases 1 to 3746) AUTHORS Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P. TITLE A probability-based approach for high-throughput protein phosphorylation analysis and site localization JOURNAL Nat. Biotechnol. 24 (10), 1285-1292 (2006) PUBMED 16964243 REFERENCE 3 (bases 1 to 3746) AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J., Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and Kim,N.S. TITLE Transcriptome analysis of human gastric cancer JOURNAL Mamm. Genome 16 (12), 942-954 (2005) PUBMED 16341674 REFERENCE 4 (bases 1 to 3746) AUTHORS Hirano,Y., Hendil,K.B., Yashiroda,H., Iemura,S., Nagane,R., Hioki,Y., Natsume,T., Tanaka,K. and Murata,S. TITLE A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes JOURNAL Nature 437 (7063), 1381-1385 (2005) PUBMED 16251969 REFERENCE 5 (bases 1 to 3746) AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E., Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P. TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004) PUBMED 15302935 REFERENCE 6 (bases 1 to 3746) 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 3746) 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 8 (bases 1 to 3746) AUTHORS Kristensen,P., Johnsen,A.H., Uerkvitz,W., Tanaka,K. and Hendil,K.B. TITLE Human proteasome subunits from 2-dimensional gels identified by partial sequencing JOURNAL Biochem. Biophys. Res. Commun. 205 (3), 1785-1789 (1994) PUBMED 7811265 REMARK Erratum:[Biochem Biophys Res Commun. 1995 Feb 27;207(3):1059. PMID: 7864893] REFERENCE 9 (bases 1 to 3746) AUTHORS Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and Vandekerckhove,J. TITLE Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes JOURNAL Electrophoresis 13 (12), 960-969 (1992) PUBMED 1286667 REFERENCE 10 (bases 1 to 3746) AUTHORS DeMartino,G.N., Orth,K., McCullough,M.L., Lee,L.W., Munn,T.Z., Moomaw,C.R., Dawson,P.A. and Slaughter,C.A. TITLE The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous JOURNAL Biochim. Biophys. Acta 1079 (1), 29-38 (1991) PUBMED 1888762 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI825400.1, AL390252.9 and H08369.1. Summary: The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. Transcript Variant: This variant (3) has an alternate 5' UTR exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, as compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript 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 :: BI825400.1, BQ421384.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-746 BI825400.1 1-746 747-3573 AL390252.9 152442-155268 c 3574-3746 H08369.1 1-173 c FEATURES Location/Qualifiers source 1..3746 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p13" gene 1..3746 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /note="proteasome (prosome, macropain) subunit, alpha type, 5" /db_xref="GeneID:5686" /db_xref="HGNC:9534" /db_xref="MIM:176844" exon 1..55 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" misc_feature 42..44 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /note="upstream in-frame stop codon" exon 56..122 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" exon 123..249 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" CDS 201..752 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /EC_number="3.4.25.1" /note="isoform 2 is encoded by transcript variant 3; macropain subunit zeta; proteasome subunit zeta; proteasome zeta chain; macropain zeta chain; multicatalytic endopeptidase complex zeta chain; proteasome component 5; proteasome subunit alpha type-5; proteasome alpha 5 subunit" /codon_start=1 /product="proteasome subunit alpha type-5 isoform 2" /protein_id="NP_001186702.1" /db_xref="GI:315138983" /db_xref="CCDS:CCDS55619.1" /db_xref="GeneID:5686" /db_xref="HGNC:9534" /db_xref="MIM:176844" /translation="
MEPSSIEKIVEIDAHIGCAMSGLIADAKTLIDKARVETQNHWFTYNETMTVESVTQAVSNLALQFGEEDADPGAMSRPFGVALLFGGVDEKGPQLFHMDPSGTFVQCDARAIGSASEGAQSSLQEVYHKSMTLKEAIKSSLIILKQVMEEKLNATNIELATVQPGQNFHMFTKEELEEVIKDI
" misc_feature <201..686 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /note="The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a...; Region: Ntn_hydrolase; cl00467" /db_xref="CDD:241884" exon 250..317 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" variation 267 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="c" /replace="t" /db_xref="dbSNP:11544739" exon 318..425 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" exon 426..484 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" exon 485..587 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" exon 588..674 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" exon 675..3734 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /inference="alignment:Splign:1.39.8" variation 946 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="c" /replace="t" /db_xref="dbSNP:199915183" STS 2210..2417 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /standard_name="D1S1985E" /db_xref="UniSTS:151310" STS 2324..2402 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /standard_name="SHGC-75266" /db_xref="UniSTS:47056" STS 2823..3069 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /standard_name="RH64702" /db_xref="UniSTS:88050" variation 2968 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="c" /replace="t" /db_xref="dbSNP:72646546" variation 3396 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="a" /replace="t" /db_xref="dbSNP:72646547" variation 3422 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="a" /replace="g" /db_xref="dbSNP:72646548" STS 3469..3662 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /standard_name="SHGC-75262" /db_xref="UniSTS:56380" variation 3513 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="c" /replace="t" /db_xref="dbSNP:72646549" variation 3568 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /replace="g" /replace="t" /db_xref="dbSNP:72646550" STS 3572..3696 /gene="PSMA5" /gene_synonym="PSC5; ZETA" /standard_name="WI-14018" /db_xref="UniSTS:10538" polyA_signal 3702..3707 /gene="PSMA5" /gene_synonym="PSC5; ZETA" polyA_site 3734 /gene="PSMA5" /gene_synonym="PSC5; ZETA" ORIGIN
gtcgcacgcgcagttggtccttagtactgcggccgtgtgggtgagttggctgccggggcgtgaatactttttctcccgaaggaagattatttcaagtggaatatgccattgaggctatcaagcttggttctacagccattgggatccagacatcagagggtgtgtgcctagctgtggagaagagaattacttccccactgatggagcccagcagcattgagaaaattgtagagattgatgctcacataggttgtgccatgagtgggctaattgctgatgctaagactttaattgataaagccagagtggagacacagaaccactggttcacctacaatgagacaatgacagtggagagtgtgacccaagctgtgtccaatctggctttgcagtttggagaagaagatgcagatccaggtgccatgtctcgtccctttggagtagcattattatttggaggagttgatgagaaaggaccccagctgtttcatatggacccatctgggacctttgtacagtgtgatgctcgagcaattggctctgcttcagagggtgcccagagctccttgcaagaagtttaccacaagtctatgactttgaaagaagccatcaagtcttcactcatcatcctcaaacaagtaatggaggagaagctgaatgcaacaaacattgagctagccacagtgcagcctggccagaatttccacatgttcacaaaggaagaacttgaagaggttatcaaggacatttaaggaatcctgatcctcagaacttctctgggacaatttcagttctaataatgtccttaaattttatttccagctcctgttccttggaaaatctccattgtatgtgcattttttaaatgatgtctgtacataaaggcagttctgaaataaagaaaattttaaaatatttgttaatagactgttctcttctaatagtcttttttttttttttttttttaagagatgaggtctcactatattgcccaggctggtttcaaactcctgggttcaagtgatcttcccgcctctgcctcctgaagtgctaggattataggcgagagccactgtgcccagccattgtaatacagtcttttgtttgaaatgcaaatgttagtgggccaaaaggacagtgttattaatatccctattctatgaagatgtctgttctaaaactgttttagtgatgctctataacagaatcaactatatccattaatcccatggtgttgataaatgaactagtccagctcttcccagtggttaatagatgttaacagcactgtaaatccatttcggccctataatttctggagcaaacgtgtatttttgctgcttttcttataaggagatgctactaattgactatcagaagaacatgttttgaggtcctcctcaaaacattgatgggttggaatcagccatcaacagtgttgtaccagttcttgggtcttgatagacaatttggaaagagatttccttgtttacgaagtgaaggactaagaattaaattaatgaccttggcctcactggcaatcaattacaaatctctatatcagtaagagaattgtaaaattcagaagcagtttacattagactttggaatgaatgatgaactttccccattagagctgccatcatatgattggtggagattgtttaaagaatcattctatctcagcctcaaaaattaccacgggaagatggtatcagtatcactacttaacagatgaagaatctaatgctgtgtgcccatggacacacaaaattaagctgttgggacttgaacagctcaaattttcttgtttcagatcaccagctcttgagtaatagggaaatctggagatttgaaaagtacttgcactgtccacaacatggctaatccatatgtggatgatgcagaattgatttaattcactaacagggaccccataattatttgctgggctctgggtatattgatgtgtaggaagttgtactatatgttaataaattatgactatttggataggctgaattcatactaaatccatactgtagttcaacaaaaaacaacatgtttatatacatttggaaactgcaatgataggaaacatttggaagaaagggattttgccctagaataacacataaggaaagcagagaattagagtatattgttactgaatgttccagagacttctagtgattttaacacttattaagtatagcatgttgatggggagatttgtttctctaaagatcactttgttttattaaatcctaatagaaaatacccttgaaaatcctatctcatttattcctgtaacaaatttattgagcacctacctactatatgccaagaaatgtattagccatcaggcagagagctgttcaaatggtagatatgatctgtgctcctgtgaaacttctagtggggagagccaaacaataaacaatattcctttttaactctaggttaatgcagaaatggataaagcccatgttgcttttgggagaggtgagttgtgtctctgaatcacatgcatttcatagggggaaaaatgcccaaatactaaggagtagctcttagcctatgtccgttcgcctcagcttaagttgttttccctcccactggctgggcagcatatttgtgttttacctggtaaaacagtaaatttcgtaccttctataattggcattcttcaaagaggtagaactttgatttttttgtagaatattaaaacaagctttcttaggttaaagaagtgatcttactacgaacagcaatggtttcatgatgtgtaattgctttatgttatctttctgctatagaatgtttcctggagaaaggtacggtttttagtaataagataaatttactttagtcctgcaaataaggtgaaatcttatgtccagtatctcacaaaggagaactgacagtgccacttttatatttaatgtcaatctcattagacaaaaatgaaatatagttcctagggtttccaatttaaaaagtgaaataataaatatattcactcaaacattttctcagtgccatatgcaagttaccatgtcccagaagctgatacagtttgaagaaggaaatatataagtactgtaagcctgtgataactaaaagcaacatactaaaaagtgaaggtacagataattggaacaaatttaatagcgtttaaaagtgtatttggtaatttctccaggaggtggcactgttgagttgttttttcttttcagacagtaagacaatagaccattcatctttgtgtcacccaaacaaagaaatattcctttataaccccctttcctccccccacctaatcacatgctactggaactgactgtcttgtgatctactcccatagttggcatagatttaaaaataatcttttttaaattaatctgatagtagttatggaaaggaacaaattgttcaccaattttcatcagctttatcttttcagtccagtaactgagaacttaaaaagactattctagtgattttactatcctgctcagatggcattcaaaaacatttttcacttctcacgtcttggaaaaatttgtaaattcgttaagtctttttgtttgaaagttaatgtgactggaaatattttaatgtaaatatcgggttgggtgcattgtatcattttgctctacaatgactatatcctcatttgggtttatggccagtttataattaaaagtaatctttacttgctttgagtgtaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5686 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:5686 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5686 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5686 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5686 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5686 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5686 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5686 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5686 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5686 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5686 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5686 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5686 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5686 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5686 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5686 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5686 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5686 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5686 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5686 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5686 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5686 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:5686 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:5686 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5686 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS GeneID:5686 -> Cellular component: GO:0019773 [proteasome core complex, alpha-subunit complex] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001186702 -> EC 3.4.25.1
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