2024-03-29 13:46:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002793 938 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1 (PSMB1), mRNA. ACCESSION NM_002793 VERSION NM_002793.3 GI:208431804 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 938) AUTHORS Bradfield,J.P., Qu,H.Q., Wang,K., Zhang,H., Sleiman,P.M., Kim,C.E., Mentch,F.D., Qiu,H., Glessner,J.T., Thomas,K.A., Frackelton,E.C., Chiavacci,R.M., Imielinski,M., Monos,D.S., Pandey,R., Bakay,M., Grant,S.F., Polychronakos,C. and Hakonarson,H. TITLE A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci JOURNAL PLoS Genet. 7 (9), E1002293 (2011) PUBMED 21980299 REFERENCE 2 (bases 1 to 938) AUTHORS Keutgens,A., Zhang,X., Shostak,K., Robert,I., Olivier,S., Vanderplasschen,A., Chapelle,J.P., Viatour,P., Merville,M.P., Bex,F., Gothot,A. and Chariot,A. TITLE BCL-3 degradation involves its polyubiquitination through a FBW7-independent pathway and its binding to the proteasome subunit PSMB1 JOURNAL J. Biol. Chem. 285 (33), 25831-25840 (2010) PUBMED 20558726 REMARK GeneRIF: data defined a unique motif of BCL-3 that is needed for its recruitment to the proteasome and identified PSMB1 as a key protein required for the proteasome-mediated degradation of a nuclear and oncogenic IkappaB protein. REFERENCE 3 (bases 1 to 938) AUTHORS Lu,X.H., Chen,Y., Zhang,M., He,P.C., Wang,H.Y., Ni,Z.F. and Lu,R. TITLE [Influence of As(2)O(3) on proteasome beta(1)-subunit in NB4 cells] JOURNAL Zhongguo Shi Yan Xue Ye Xue Za Zhi 17 (3), 579-582 (2009) PUBMED 19549367 REMARK GeneRIF: Expression of 26S proteasome beta(1)-subunit in NB4 cells increased after incubation with As(2)O(3). REFERENCE 4 (bases 1 to 938) AUTHORS Chistiakov,D.A., Seryogin,Y.A., Turakulov,R.I., Savost'anov,K.V., Titovich,E.V., Zilberman,L.I., Kuraeva,T.L., Dedov,I.I. and Nosikov,V.V. TITLE Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set JOURNAL J. Autoimmun. 24 (3), 243-250 (2005) PUBMED 15848047 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 938) AUTHORS Listovsky,T., Oren,Y.S., Yudkovsky,Y., Mahbubani,H.M., Weiss,A.M., Lebendiker,M. and Brandeis,M. TITLE Mammalian Cdh1/Fzr mediates its own degradation JOURNAL EMBO J. 23 (7), 1619-1626 (2004) PUBMED 15029244 REFERENCE 6 (bases 1 to 938) AUTHORS Okumura,K., Nogami,M., Taguchi,H., Hisamatsu,H. and Tanaka,K. TITLE The genes for the alpha-type HC3 (PMSA2) and beta-type HC5 (PMSB1) subunits of human proteasomes map to chromosomes 6q27 and 7p12-p13 by fluorescence in situ hybridization JOURNAL Genomics 27 (2), 377-379 (1995) PUBMED 7558012 REFERENCE 7 (bases 1 to 938) 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 8 (bases 1 to 938) AUTHORS Tamura,T., Osaka,F., Kawamura,Y., Higuti,T., Ishida,N., Nothwang,H.G., Tsurumi,C., Tanaka,K. and Ichihara,A. TITLE Isolation and characterization of alpha-type HC3 and beta-type HC5 subunit genes of human proteasomes JOURNAL J. Mol. Biol. 244 (1), 117-124 (1994) PUBMED 7966316 REFERENCE 9 (bases 1 to 938) AUTHORS Tamura,T., Lee,D.H., Osaka,F., Fujiwara,T., Shin,S., Chung,C.H., Tanaka,K. and Ichihara,A. TITLE Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes) JOURNAL Biochim. Biophys. Acta 1089 (1), 95-102 (1991) PUBMED 2025653 REFERENCE 10 (bases 1 to 938) AUTHORS Lee,L.W., Moomaw,C.R., Orth,K., McGuire,M.J., DeMartino,G.N. and Slaughter,C.A. TITLE Relationships among the subunits of the high molecular weight proteinase, macropain (proteasome) JOURNAL Biochim. Biophys. Acta 1037 (2), 178-185 (1990) PUBMED 2306472 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP369175.1, BC020807.1 and BQ685374.1. On Oct 3, 2008 this sequence version replaced gi:22538462. 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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]. 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 :: BQ672826.1, BU152996.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-49 BP369175.1 13-61 50-910 BC020807.1 1-861 911-938 BQ685374.1 641-668 FEATURES Location/Qualifiers source 1..938 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6q27" gene 1..938 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="proteasome (prosome, macropain) subunit, beta type, 1" /db_xref="GeneID:5689" /db_xref="HGNC:9537" /db_xref="HPRD:03603" /db_xref="MIM:602017" exon 1..200 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" variation 26 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="c" /replace="t" /db_xref="dbSNP:61508644" misc_feature 49..51 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="upstream in-frame stop codon" variation 82 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="c" /replace="t" /db_xref="dbSNP:10946279" CDS 88..813 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /EC_number="3.4.25.1" /note="proteasome subunit HC5; proteasome component C5; macropain subunit C5; proteasome gamma chain; multicatalytic endopeptidase complex subunit C5; proteasome beta 1 subunit" /codon_start=1 /product="proteasome subunit beta type-1" /protein_id="NP_002784.1" /db_xref="GI:4506193" /db_xref="CCDS:CCDS34577.1" /db_xref="GeneID:5689" /db_xref="HGNC:9537" /db_xref="HPRD:03603" /db_xref="MIM:602017" /translation="
MLSSTAMYSAPGRDLGMEPHRAAGPLQLRFSPYVFNGGTILAIAGEDFAIVASDTRLSEGFSIHTRDSPKCYKLTDKTVIGCSGFHGDCLTLTKIIEARLKMYKHSNNKAMTTGAIAAMLSTILYSRRFFPYYVYNIIGGLDEEGKGAVYSFDPVGSYQRDSFKAGGSASAMLQPLLDNQVGFKNMQNVEHVPLSLDRAMRLVKDVFISAAERDVYTGDALRICIVTKEGIREETVSLRKD
" misc_feature 175..810 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="proteasome beta type-1 subunit. 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...; Region: proteasome_beta_type_1; cd03757" /db_xref="CDD:48455" misc_feature 196..786 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="proteasome, beta subunit, bacterial type; Region: 20S_bact_beta; TIGR03690" /db_xref="CDD:163402" misc_feature order(199..201,247..249,253..255,295..297,589..591, 727..729,736..741) /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="active site" /db_xref="CDD:48455" misc_feature order(253..255,262..264,268..285,343..345,349..351, 394..396,430..432,439..444,448..453,460..462,469..471, 544..546,550..552,556..567,574..576,598..603,607..612, 619..627,700..702,721..732,739..744) /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /note="beta subunit interaction site [polypeptide binding]; other site" /db_xref="CDD:48455" misc_feature 697..699 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P20618.2); acetylation site" variation 118 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="c" /replace="g" /db_xref="dbSNP:12717" variation 160 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="c" /replace="t" /db_xref="dbSNP:60257797" variation 181 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="c" /replace="t" /db_xref="dbSNP:11548696" exon 201..308 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" exon 309..390 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" exon 391..520 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" exon 521..627 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" variation 598 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="g" /replace="t" /db_xref="dbSNP:11548695" STS 613..748 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /standard_name="RH93445" /db_xref="UniSTS:87885" exon 628..917 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /inference="alignment:Splign:1.39.8" STS 709..848 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /standard_name="RH17360" /db_xref="UniSTS:21586" variation 710 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="a" /replace="t" /db_xref="dbSNP:10541" variation 740 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="g" /replace="t" /db_xref="dbSNP:10334" variation 908 /gene="PSMB1" /gene_synonym="HC5; PMSB1; PSC5" /replace="a" /replace="g" /db_xref="dbSNP:60070215" ORIGIN
gagaagccggaagtggcgtaacgtccggtcaaggcagccatctcgccgtgagacagcaagtgtcggatccgcaggcgcagccgtgcgatgttgtcctctacagccatgtattcggctcctggcagagacttggggatggaaccgcacagagccgcgggccctttgcagctgcgattttcgccctacgttttcaacggaggtactatactggcaattgctggagaagattttgcaattgttgcttctgatactcgattgagtgaagggttttcaattcatacgcgggatagccccaaatgttacaaattaacagacaaaacagtcattggatgcagcggttttcatggagactgtcttacgctgacaaagattattgaagcaagactaaagatgtataagcattccaataataaggccatgactacgggggcaattgctgcaatgctgtctacaatcctgtattcaaggcgcttctttccatactatgtttacaacatcatcggtggacttgatgaagaaggaaagggggctgtatacagctttgatccagtagggtcttaccagagagactccttcaaggctggaggctcagcaagtgccatgctacagcccctgcttgacaaccaggttggttttaagaacatgcagaatgtggagcatgttccgctgtccttggacagagccatgcggctggtgaaagatgtcttcatttctgcggctgagagagatgtgtacactggggacgcactccggatctgcatagtgaccaaagagggcatcagggaggaaactgtttccttaaggaaggactgatctgtgtgctcttatcaccaatcagttcagacctggttgattttgtactttggaactgtaccttggatggttttgtttattaaaagagaaacctgaagtactcaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5689 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:5689 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5689 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5689 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5689 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5689 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5689 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5689 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5689 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5689 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5689 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5689 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:5689 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5689 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5689 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5689 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5689 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5689 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5689 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5689 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5689 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5689 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5689 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_002784 -> EC 3.4.25.1
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