2024-03-30 00:54:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002801 1019 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA. ACCESSION NM_002801 VERSION NM_002801.3 GI:325652084 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 1019) AUTHORS Lichter,D.I., Danaee,H., Pickard,M.D., Tayber,O., Sintchak,M., Shi,H., Richardson,P.G., Cavenagh,J., Blade,J., Facon,T., Niesvizky,R., Alsina,M., Dalton,W., Sonneveld,P., Lonial,S., van de Velde,H., Ricci,D., Esseltine,D.L., Trepicchio,W.L., Mulligan,G. and Anderson,K.C. TITLE Sequence analysis of beta-subunit genes of the 20S proteasome in patients with relapsed multiple myeloma treated with bortezomib or dexamethasone JOURNAL Blood 120 (23), 4513-4516 (2012) PUBMED 23018640 REMARK GeneRIF: Data indicate that treatment-emergent resistance to single-agent bortezomib was independent of variants in the proteasome genes PSMB1, PSMB5, PSMB6, PSMB8, PSMB9, and PSMB10. REFERENCE 2 (bases 1 to 1019) AUTHORS Kenny,E.E., Pe'er,I., Karban,A., Ozelius,L., Mitchell,A.A., Ng,S.M., Erazo,M., Ostrer,H., Abraham,C., Abreu,M.T., Atzmon,G., Barzilai,N., Brant,S.R., Bressman,S., Burns,E.R., Chowers,Y., Clark,L.N., Darvasi,A., Doheny,D., Duerr,R.H., Eliakim,R., Giladi,N., Gregersen,P.K., Hakonarson,H., Jones,M.R., Marder,K., McGovern,D.P., Mulle,J., Orr-Urtreger,A., Proctor,D.D., Pulver,A., Rotter,J.I., Silverberg,M.S., Ullman,T., Warren,S.T., Waterman,M., Zhang,W., Bergman,A., Mayer,L., Katz,S., Desnick,R.J., Cho,J.H. and Peter,I. TITLE A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci JOURNAL PLoS Genet. 8 (3), E1002559 (2012) PUBMED 22412388 REFERENCE 3 (bases 1 to 1019) AUTHORS Berhane,S., Areste,C., Ablack,J.N., Ryan,G.B., Blackbourn,D.J., Mymryk,J.S., Turnell,A.S., Steele,J.C. and Grand,R.J. TITLE Adenovirus E1A interacts directly with, and regulates the level of expression of, the immunoproteasome component MECL1 JOURNAL Virology 421 (2), 149-158 (2011) PUBMED 22018786 REMARK GeneRIF: Adenovirus E1A causes down-regulation of MECL1 expression REFERENCE 4 (bases 1 to 1019) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 5 (bases 1 to 1019) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1019) AUTHORS Foss,G.S., Larsen,F., Solheim,J. and Prydz,H. TITLE Constitutive and interferon-gamma-induced expression of the human proteasome subunit multicatalytic endopeptidase complex-like 1 JOURNAL Biochim. Biophys. Acta 1402 (1), 17-28 (1998) PUBMED 9551082 REFERENCE 7 (bases 1 to 1019) 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 8 (bases 1 to 1019) AUTHORS Hisamatsu,H., Shimbara,N., Saito,Y., Kristensen,P., Hendil,K.B., Fujiwara,T., Takahashi,E., Tanahashi,N., Tamura,T., Ichihara,A. and Tanaka,K. TITLE Newly identified pair of proteasomal subunits regulated reciprocally by interferon gamma JOURNAL J. Exp. Med. 183 (4), 1807-1816 (1996) PUBMED 8666937 REFERENCE 9 (bases 1 to 1019) 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 10 (bases 1 to 1019) AUTHORS Larsen,F., Solheim,J., Kristensen,T., Kolsto,A.B. and Prydz,H. TITLE A tight cluster of five unrelated human genes on chromosome 16q22.1 JOURNAL Hum. Mol. Genet. 2 (10), 1589-1595 (1993) PUBMED 8268911 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP289065.1 and BM981173.1. On Mar 10, 2011 this sequence version replaced gi:23110923. 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. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [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 :: BQ066267.1, Y13640.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-582 BP289065.1 1-582 583-1019 BM981173.1 1-437 c FEATURES Location/Qualifiers source 1..1019 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.1" gene 1..1019 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="proteasome (prosome, macropain) subunit, beta type, 10" /db_xref="GeneID:5699" /db_xref="HGNC:9538" /db_xref="HPRD:01465" /db_xref="MIM:176847" exon 1..184 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" misc_feature 33..35 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="upstream in-frame stop codon" STS 45..188 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /standard_name="RH65000" /db_xref="UniSTS:85016" variation 82 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /replace="a" /replace="g" /db_xref="dbSNP:1127725" CDS 129..950 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /EC_number="3.4.25.1" /note="proteasome MECl-1; macropain subunit MECl-1; multicatalytic endopeptidase complex subunit MECl-1; proteasome catalytic subunit 2i; proteasome subunit beta 7i; proteasome subunit beta type-10; proteasome subunit MECL1; proteasome subunit beta-2i; low molecular mass protein 10" /codon_start=1 /product="proteasome subunit beta type-10 precursor" /protein_id="NP_002792.1" /db_xref="GI:4506191" /db_xref="CCDS:CCDS10853.1" /db_xref="GeneID:5699" /db_xref="HGNC:9538" /db_xref="HPRD:01465" /db_xref="MIM:176847" /translation="
MLKPALEPRGGFSFENCQRNASLERVLPGLKVPHARKTGTTIAGLVFQDGVILGADTRATNDSVVADKSCEKIHFIAPKIYCCGAGVAADAEMTTRMVASKMELHALSTGREPRVATVTRILRQTLFRYQGHVGASLIVGGVDLTGPQLYGVHPHGSYSRLPFTALGSGQDAALAVLEDRFQPNMTLEAAQGLLVEAVTAGILGDLGSGGNVDACVITKTGAKLLRTLSSPTEPVKRSGRYHFVPGTTAVLTQTVKPLTLELVEETVQAMEVE
" misc_feature 162..791 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="20S proteasome, alpha and beta subunits [Posttranslational modification, protein turnover, chaperones]; Region: PRE1; COG0638" /db_xref="CDD:30983" misc_feature 243..248 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="non-experimental evidence, no additional details recorded" /note="Cleavage, by autocatalysis (By similarity); propagated from UniProtKB/Swiss-Prot (P40306.1); cleavage site" mat_peptide 246..947 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /product="Proteasome subunit beta type-10" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P40306.1)" misc_feature 246..809 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="proteasome beta type-7 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_7; cd03763" /db_xref="CDD:48461" misc_feature order(246..248,294..296,300..302,342..344,630..632, 741..743,750..755) /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="active site" /db_xref="CDD:48461" misc_feature order(300..302,309..311,315..332,390..392,396..398, 441..443,477..479,486..491,495..500,507..509,516..518, 585..587,591..593,597..608,615..617,639..644,648..653, 660..668,714..716,735..746,753..758) /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="beta subunit interaction site [polypeptide binding]; other site" /db_xref="CDD:48461" misc_feature 819..935 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /note="Proteasome beta subunits C terminal; Region: Pr_beta_C; pfam12465" /db_xref="CDD:204931" exon 185..272 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" exon 273..370 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" STS 365..604 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /standard_name="MARC_6927-6928:992007571:1" /db_xref="UniSTS:231288" exon 371..511 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" variation 447 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:20549" exon 512..627 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" variation 581 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /replace="c" /replace="t" /db_xref="dbSNP:14178" exon 628..686 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" STS 658..952 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /standard_name="RH79694" /db_xref="UniSTS:89233" exon 687..838 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" STS 759..994 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /standard_name="WI-20243" /db_xref="UniSTS:83031" exon 839..1006 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" /inference="alignment:Splign:1.39.8" polyA_signal 980..985 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" polyA_site 1006 /gene="PSMB10" /gene_synonym="beta2i; LMP10; MECL1" ORIGIN
aaaggcgaaagcgaaagcaggaagtacagacgtgaagcctagcagaggactttttagctgctcactggccccgcttgtctggccgactcatccgcccgcgacccctaatcccctctgcctgccccaagatgctgaagccagccctggagccccgagggggcttctccttcgagaactgccaaagaaatgcatcattggaacgcgtcctcccggggctcaaggtccctcacgcacgcaagaccgggaccaccatcgcgggcctggtgttccaagacggggtcattctgggcgccgatacgcgagccactaacgattcggtcgtggcggacaagagctgcgagaagatccacttcatcgcccccaaaatctactgctgtggggctggagtagccgcggacgccgagatgaccacacggatggtggcgtccaagatggagctacacgcgttatctacgggccgcgagccccgcgtggccacggtcactcgcatcctgcgccagacgctcttcaggtaccagggccacgtgggtgcatcgctgatcgtgggcggcgtagacctgactggaccgcagctctacggtgtgcatccccatggctcctacagccgtctgcccttcacagccctgggctctggtcaggacgcggccctggcggtgctagaagaccggttccagccgaacatgacgctggaggctgctcaggggctgctggtggaagccgtcaccgccgggatcttgggtgacctgggctccgggggcaatgtggacgcatgtgtgatcacaaagactggcgccaagctgctgcggacactgagctcacccacagagcccgtgaagaggtctggccgctaccactttgtgcctggaaccacagctgtcctgacccagacagtgaagccactaaccctggagctagtggaggaaactgtgcaggctatggaggtggagtaagctgaggcttagagcttggaacaagggggaataaacccagaaaatacagttaaacaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5699 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:5699 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5699 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5699 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5699 -> Biological process: GO:0000902 [cell morphogenesis] evidence: IEA GeneID:5699 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5699 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5699 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5699 -> Biological process: GO:0006959 [humoral immune response] evidence: TAS GeneID:5699 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5699 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5699 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5699 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:5699 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0042098 [T cell proliferation] evidence: IEA GeneID:5699 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5699 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5699 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5699 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5699 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5699 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5699 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5699 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5699 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5699 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5699 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS GeneID:5699 -> Cellular component: GO:1990111 [spermatoproteasome complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_002792 -> EC 3.4.25.1
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