2024-04-26 23:35:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199780 4235 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 2 (PSMB2), transcript variant 3, mRNA. ACCESSION NM_001199780 VERSION NM_001199780.1 GI:315139003 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 4235) AUTHORS Collavoli,A., Comelli,L., Cervelli,T. and Galli,A. TITLE The over-expression of the beta2 catalytic subunit of the proteasome decreases homologous recombination and impairs DNA double-strand break repair in human cells JOURNAL J. Biomed. Biotechnol. 2011, 757960 (2011) PUBMED 21660142 REMARK GeneRIF: Results showed that the overexpression of beta2 subunit decreased homologous recombination in human cells without altering the cell proteasome activity and the Rad51p level. REFERENCE 2 (bases 1 to 4235) 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 3 (bases 1 to 4235) 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 4 (bases 1 to 4235) AUTHORS Conticello,S.G., Harris,R.S. and Neuberger,M.S. TITLE The Vif protein of HIV triggers degradation of the human antiretroviral DNA deaminase APOBEC3G JOURNAL Curr. Biol. 13 (22), 2009-2013 (2003) PUBMED 14614829 REFERENCE 5 (bases 1 to 4235) AUTHORS Yu,X., Yu,Y., Liu,B., Luo,K., Kong,W., Mao,P. and Yu,X.F. TITLE Induction of APOBEC3G ubiquitination and degradation by an HIV-1 Vif-Cul5-SCF complex JOURNAL Science 302 (5647), 1056-1060 (2003) PUBMED 14564014 REFERENCE 6 (bases 1 to 4235) 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 7 (bases 1 to 4235) 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 4235) AUTHORS Nothwang,H.G., Tamura,T., Tanaka,K. and Ichihara,A. TITLE Sequence analyses and inter-species comparisons of three novel human proteasomal subunits, HsN3, HsC7-I and HsC10-II, confine potential proteolytic active-site residues JOURNAL Biochim. Biophys. Acta 1219 (2), 361-368 (1994) PUBMED 7918633 REFERENCE 9 (bases 1 to 4235) 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 4235) AUTHORS Dawson,S.J. and White,L.A. TITLE Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin JOURNAL J. Infect. 24 (3), 317-320 (1992) PUBMED 1602151 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK310023.1, AL157951.5 and BM664618.1. 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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]. Transcript Variant: This variant (3) lacks two exons from the 5' end and has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) 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 :: AK310023.1, DA917638.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-991 AK310023.1 1-991 992-3866 AL157951.5 6371-9245 3867-4235 BM664618.1 1-369 c FEATURES Location/Qualifiers source 1..4235 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p34.2" gene 1..4235 /gene="PSMB2" /gene_synonym="HC7-I" /note="proteasome (prosome, macropain) subunit, beta type, 2" /db_xref="GeneID:5690" /db_xref="HGNC:9539" /db_xref="MIM:602175" exon 1..102 /gene="PSMB2" /gene_synonym="HC7-I" /inference="alignment:Splign:1.39.8" misc_feature 45..47 /gene="PSMB2" /gene_synonym="HC7-I" /note="upstream in-frame stop codon" exon 103..173 /gene="PSMB2" /gene_synonym="HC7-I" /inference="alignment:Splign:1.39.8" exon 174..336 /gene="PSMB2" /gene_synonym="HC7-I" /inference="alignment:Splign:1.39.8" CDS 240..494 /gene="PSMB2" /gene_synonym="HC7-I" /EC_number="3.4.25.1" /note="isoform 3 is encoded by transcript variant 3; macropain subunit C7-I; multicatalytic endopeptidase complex subunit C7-1; proteasome component C7-I; proteasome subunit, beta type, 2; proteasome subunit beta type-2; proteasome beta 2 subunit; multicatalytic endopeptidase complex subunit C7-I" /codon_start=1 /product="proteasome subunit beta type-2 isoform 3" /protein_id="NP_001186709.1" /db_xref="GI:315139004" /db_xref="GeneID:5690" /db_xref="HGNC:9539" /db_xref="MIM:602175" /translation="
MDYLAALAKAPFAAHGYGAFLTLSILDRYYTPTISRERAVELLRKCLEELQKRFILNLPTFSVRIIDKNGIHDLDNISFPKQGS
" misc_feature <240..464 /gene="PSMB2" /gene_synonym="HC7-I" /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:213420" exon 337..386 /gene="PSMB2" /gene_synonym="HC7-I" /inference="alignment:Splign:1.39.8" variation 363 /gene="PSMB2" /gene_synonym="HC7-I" /replace="c" /replace="t" /db_xref="dbSNP:1804236" exon 387..4220 /gene="PSMB2" /gene_synonym="HC7-I" /inference="alignment:Splign:1.39.8" variation 448 /gene="PSMB2" /gene_synonym="HC7-I" /replace="g" /replace="t" /db_xref="dbSNP:1804237" STS 493..594 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="SHGC-35307" /db_xref="UniSTS:2779" variation 499 /gene="PSMB2" /gene_synonym="HC7-I" /replace="a" /replace="g" /db_xref="dbSNP:12386" variation 529 /gene="PSMB2" /gene_synonym="HC7-I" /replace="c" /replace="t" /db_xref="dbSNP:60768546" variation 571 /gene="PSMB2" /gene_synonym="HC7-I" /replace="a" /replace="g" /db_xref="dbSNP:61192957" variation 646 /gene="PSMB2" /gene_synonym="HC7-I" /replace="c" /replace="t" /db_xref="dbSNP:61038979" STS 988..1090 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D11S3114" /db_xref="UniSTS:152207" STS 1072..2591 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 1072..1160 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 1091..2671 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="AB049870" /db_xref="UniSTS:480103" STS 1091..2632 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D10S275" /db_xref="UniSTS:147992" STS 1517..1647 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D15S1390" /db_xref="UniSTS:474340" variation 1578 /gene="PSMB2" /gene_synonym="HC7-I" /replace="a" /replace="g" /db_xref="dbSNP:1132065" variation 1602 /gene="PSMB2" /gene_synonym="HC7-I" /replace="a" /replace="g" /db_xref="dbSNP:1132067" variation 1613 /gene="PSMB2" /gene_synonym="HC7-I" /replace="a" /replace="g" /db_xref="dbSNP:1132068" STS 2455..2630 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="D1S1425" /db_xref="UniSTS:149621" STS 2457..2627 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="G35510" /db_xref="UniSTS:44150" STS 3363..3506 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="SHGC-74572" /db_xref="UniSTS:30275" STS 4068..4172 /gene="PSMB2" /gene_synonym="HC7-I" /standard_name="SHGC-74576" /db_xref="UniSTS:54319" variation 4079 /gene="PSMB2" /gene_synonym="HC7-I" /replace="c" /replace="t" /db_xref="dbSNP:1062255" polyA_site 4220 /gene="PSMB2" /gene_synonym="HC7-I" ORIGIN
agtactaaccagctatttcatagctgttgcatgaggaaagggactagagtaggattgtacccctcagtctatgctttgtttactctgagtgtacaaaagatggatatgaattgtctcccacggcagcagctaacttcacacgccgaaacctggctgactgtcttcggagtcggaccccatatcatgtgaacctcctcctggctggctatgatgagcatgaagggccagcgctgtattacatggactacctggcagccttggccaaggccccttttgcagcccacggctatggtgccttcctgactctcagtatcctcgaccgatactacacaccgactatctcacgtgagagggcagtggaactccttaggaaatgtctggaggagctccagaaacgcttcatcctgaatctgccaaccttcagtgttcgaatcattgacaaaaatggcatccatgacctggataacatttccttccccaaacagggctcctaacatcatgtcctccctcccacttgccagggaacttttttttgatgggctcctttatttttttctactcttttcaggcgcactcttgataaatggttaattcagaataaaggtgactatggatataattgagccctctggtccaggtctcagtttacctaatattacctcagaaaggatatggagggaagatgatctttttgccaggtctgacttttcttcctgctccgccctccattaacgctcagtaccctttagcagctgacggccccacgttctactccatgcttggcttcctttccaactagctctttcatatattttacttgctagtatctccattctctctaaagtagtggttctttttgcccttaaacttaaatttttaaattaattaacctgaattaataatacatgcacttaatgtaacatgcaaacagtacaaaaacatgtagtgaaaaatatttcttccagagctgggtgtggtggctcatacctgtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcaagagagcgagaccatcctgaccaacatggtaaaaccccgtctctactaaaaatacaaaaattagctgggcgtggtggcacgcacccctagtcccagctactggggaggctgagacaggagaatcggtcgaacccgggaggcagaggttgcagtgagcctagatcgcgccactgtactccagcctggcaacagagtgagactccgtctcaaaaaaagaaggaaaaatgtttcttccatccctataatccagtcatctgcttcctgcttcccttcctggaggaaacttcagctactaatttcttatgttttttaagagatattctgttactgtgtaaagtatacatacatacagacacatgccccctttaaattttttagatttatttatttatttagagacagggtctcactctagcccaggctggagtgctgtggcgtaatcttggctcactgcaacctccgcctcccgggcccaagtgatcctcccatctcagcctcctgagtagctaggattacaggcgcacaccaccaatgcccagctagtttttgtgtttttcatagagacagggtctcaccatgtcattcaggttggtcttgaactcctgggctcaagcagtctgcctgccttggcttcccagtgctgggattacaggcgtgagccaccgtgcccggctaaaaagtatttttaagttctgcatattgcttatttcacttaacactatattagagattgttttatatcaatacatatagatatgcttattcttgttgacagttgcataattttccattaaattgatgtatcatgggcagttaaccagttactcgttttactcttagcataactttagggaacaatgtggatgttttgtggttaaagctattaaaacagtggttcttgaccagatgtgtgtttcagaatgttcatctcacatttccagttgctactgatgctgctggtctaggaaccacatatcaaaaccatttggtctccgactaagataaaccctactttatccaattctgtgctcctcttaatatcatatacagataggtttttgttttgtctgtgattaaatgtatcatctaagatactacctactgatcataacgttcatattaaagtattgggttaacattagatttgggtgtcttatacactatttaatacgccaatgataaatgccttacaccataagaagaaagctaatcattgagtaaatgggagaaaagagatgattcacgtcactacagttgattcaacctccaacaccaccatgaatatgcataggtttgagcttttagctagattcctgagtgtaaggcatctattttaaaagtgccacaggttggccgggtgcggtggctcatgcctgtaatcccagcactttggccgcccgccgaggcgggcggatcacctgaggtcaggagttcaagaccagcctggccaacatggtgaaaccccatctctactaaaaaaatatataacaattagccaggcgtggtggcacacgcctgtaaacccaactacttgggaggctgaggcaggagaattgcttgagcccgggagagggaggttgcagtgagccgagatcatgccactgcactccagcctggctgacagagcaagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaagcgccacagatgattctgacgccctacccagtggagtgctgctactaaagcacagactatcctgctacatgattttcccatctgtacaatgactgaaatagcacctattctatgtggtagatatgagaattccatgaagtaatataggtaaacatttagttcagggcttggcatgtggtaagtgctcagtaagtgtataatgattggtaaacttgttattctgcattcaggcctcaccagggatgacatacggttctctgcctttgaatgtaagtgtccccagggcaatctcaggcaagcctgcaaacccatcctgactctcagtgtttttttgccaatctggatctctttcctgagctccaaatcaactcattcctagatagctcaccctccagatttagggacatcgaactcagtatgtctaaagctgagccttaccatctgcccctctccaaaccgcctctatgacattctgtcttagagaattagagctacctggtttcccaagtgcccaagtcagaaacccaggcatcatttatttttaataaatgttttattttggaataaatttggttttacagaaaagttgcaaagataatatggtgtccttataccccttattcagtttctgtaatgttaacatcttctatataccacagtatgtttgtcaaaactgagaaaccaacattggttggtgtattagtattactaagctccaggctttattcagattttaccagtttttccactaattttcttctgttctaggatataatccaagatacaacattgcatttagctgggcatcatttttatgccattctttatctcctgtctctacatggccaccaagttctggcatttctacatcctaaatcttttaattttattataattttttattgttgtttttcagagacagggtcttgctccatcacctaggctggagtacagtggcacgatcgtagcttactgcagtaagttcacttgaactcctgggctcaagtgaacctcttaccccagcctcccaactagctgggactagaggggtgcaccactgcacccagctaattttgtcaaaattttttgtagagacagggtctcgccatgttgcctaggctggtctcgaactcttggcctcaagtgatcctcccaccttggtctgccaaagcactgggattacagatgtgagccactgcacccagcctaatctttataaatctccatccccattactctggttcaccccctatcgtttcttagactatttaacagcctcctaacttcactctacttttaatctcttccctctccaggtctttctccatattttaaaaaactagtttcaccatccattcctctctgcccttaaaactttctggtggttttccatggcttaagagaataaagcccaattctttgatttgacatgctaggcattccataatcctctccgaacctaactccccacttcctttccctcctttacacctcataaagcctgtgttccaactaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5690 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:5690 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5690 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5690 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5690 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5690 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5690 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5690 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5690 -> Biological process: GO:0010243 [response to organonitrogen compound] evidence: IEA GeneID:5690 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5690 -> Biological process: GO:0014070 [response to organic cyclic compound] evidence: IEA GeneID:5690 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5690 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:5690 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5690 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5690 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5690 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5690 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5690 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5690 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5690 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5690 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5690 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5690 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:5690 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5690 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001186709 -> EC 3.4.25.1
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