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2024-04-19 21:02:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001270481 889 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 6
(PSMB6), transcript variant 2, mRNA.
ACCESSION NM_001270481
VERSION NM_001270481.1 GI:394953892
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 889)
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 889)
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 3 (bases 1 to 889)
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 4 (bases 1 to 889)
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 5 (bases 1 to 889)
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 6 (bases 1 to 889)
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 7 (bases 1 to 889)
AUTHORS Belich,M.P., Glynne,R.J., Senger,G., Sheer,D. and Trowsdale,J.
TITLE Proteasome components with reciprocal expression to that of the
MHC-encoded LMP proteins
JOURNAL Curr. Biol. 4 (9), 769-776 (1994)
PUBMED 7820546
REFERENCE 8 (bases 1 to 889)
AUTHORS Akiyama,K., Yokota,K., Kagawa,S., Shimbara,N., Tamura,T.,
Akioka,H., Nothwang,H.G., Noda,C., Tanaka,K. and Ichihara,A.
TITLE cDNA cloning and interferon gamma down-regulation of proteasomal
subunits X and Y
JOURNAL Science 265 (5176), 1231-1234 (1994)
PUBMED 8066462
REFERENCE 9 (bases 1 to 889)
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
REFERENCE 10 (bases 1 to 889)
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 BF671774.1, BU848746.1 and
BM553399.1.
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. The
encoded protein is a member of the proteasome B-type family, also
known as the T1B family, and is a 20S core beta subunit in the
proteasome. Alternatively spliced transcript variants encoding
multiple isoforms have been observed for this gene. [provided by
RefSeq, Jul 2012].
Transcript Variant: This variant (2) uses an alternate splice site
in the 3' coding region, which results in a frameshift, compared to
variant 1. The encoded isoform (2) is shorter and has a distinct
C-terminus, compared to isoform 1.
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 :: BU848746.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025092 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-114 BF671774.1 2-115
115-856 BU848746.1 47-788
857-889 BM553399.1 784-816
FEATURES Location/Qualifiers
source 1..889
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p13"
gene 1..889
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/note="proteasome (prosome, macropain) subunit, beta type,
6"
/db_xref="GeneID:5694"
/db_xref="HGNC:9543"
/db_xref="MIM:600307"
exon 1..153
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
variation 44
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:368384009"
CDS 52..693
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/EC_number="3.4.25.1"
/note="isoform 2 proprotein is encoded by transcript
variant 2; proteasome subunit delta; PSY large
multifunctional protease Y; proteasome delta chain;
macropain delta chain; multicatalytic endopeptidase
complex delta chain; proteasome catalytic subunit 1;
proteasome subunit Y"
/codon_start=1
/product="proteasome subunit beta type-6 isoform 2
proprotein"
/protein_id="NP_001257410.1"
/db_xref="GI:394953893"
/db_xref="GeneID:5694"
/db_xref="HGNC:9543"
/db_xref="MIM:600307"
/translation="
MAATLLAARGAGPAPAWGPEAFTPDWESREVSTGTTIMAVQFDGGVVLGADSRTTTGSYIANRVTDKLTPIHDRIFCCRSGSAADTQAVADAVTYQLGFHSIELNEPPLVHTAASLFKEMCYRYREDLMAGIIIAGWDPQEGGQVYSVPMGGMMVRQSFAIGGSGSSYIYGYVDATYREGMTKEECLQFTANAFFFYPQLSLWPWSGMAPVEE
"
misc_feature 55..57
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylalanine; propagated from
UniProtKB/Swiss-Prot (P28072.4); acetylation site"
misc_feature 136..633
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/note="20S proteasome, alpha and beta subunits
[Posttranslational modification, protein turnover,
chaperones]; Region: PRE1; COG0638"
/db_xref="CDD:30983"
mat_peptide 154..690
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/product="proteasome subunit beta type-6 isoform 2"
misc_feature 154..630
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/note="proteasome beta type-6 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_6; cd03762"
/db_xref="CDD:48460"
misc_feature order(154..156,202..204,208..210,250..252,541..543)
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/note="active site"
/db_xref="CDD:48460"
misc_feature order(208..210,217..219,223..240,298..300,304..306,
349..351,385..387,394..399,403..408,415..417,424..426,
496..498,502..504,508..519,526..528,550..555,559..564,
571..579,625..627)
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/note="beta subunit interaction site [polypeptide
binding]; other site"
/db_xref="CDD:48460"
variation 65
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:200484344"
variation 69
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:116466042"
variation 76
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:371587768"
variation 80
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace=""
/replace="g"
/db_xref="dbSNP:35891847"
variation 83
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/db_xref="dbSNP:140751461"
variation 114
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3169950"
exon 154..221
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
variation 181
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="g"
/replace="t"
/db_xref="dbSNP:143768117"
variation 219
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:11552523"
exon 222..353
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
variation 224
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/db_xref="dbSNP:141042303"
variation 234
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:150229776"
variation 236
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:182638722"
STS 252..459
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/standard_name="D17S1509E"
/db_xref="UniSTS:151714"
variation 258
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/db_xref="dbSNP:368404842"
variation 267
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:139119751"
variation 270
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:190897423"
variation 288
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:367658796"
variation 309
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:11552524"
variation 342
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:143024256"
variation 343
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:371370042"
exon 354..483
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
variation 369
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:59124255"
variation 370
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:2304974"
variation 374
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:368699351"
variation 396
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:2304975"
variation 417
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:149312249"
variation 419
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:144706895"
variation 425
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:200783412"
exon 484..628
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
STS 486..628
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/standard_name="G62058"
/db_xref="UniSTS:139169"
variation 492
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="t"
/db_xref="dbSNP:11552525"
variation 526
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:148466899"
variation 582
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:7468"
STS 593..844
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/standard_name="STS-AA009788"
/db_xref="UniSTS:60379"
variation 611
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:113625242"
variation 616
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:199961729"
variation 626
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:376453032"
exon 629..872
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/inference="alignment:Splign:1.39.8"
variation 650
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:112086736"
variation 670
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:150542791"
variation 764
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:139849131"
variation 765
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:143389701"
variation 767
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:143180926"
variation 768
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:201170982"
variation 772
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="c"
/db_xref="dbSNP:374601335"
variation 786
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:148379239"
variation 790
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="g"
/replace="t"
/db_xref="dbSNP:1804248"
variation 797
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:376031812"
variation 803
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050296"
variation 821
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="t"
/db_xref="dbSNP:116006635"
variation 824
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="c"
/replace="g"
/db_xref="dbSNP:372668553"
variation 833
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
/replace="a"
/replace="g"
/db_xref="dbSNP:183435362"
polyA_signal 844..849
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
polyA_site 872
/gene="PSMB6"
/gene_synonym="DELTA; LMPY; Y"
ORIGIN
gtgacagagcgctttacgacagttgctttgaggcagtaccggaggagaaagatggcggctaccttactagctgctcggggagccgggccagcaccggcttgggggccggaggcgttcactccagactgggaaagccgagaagtttccactgggaccactatcatggccgtgcagtttgacgggggcgtggttctgggggcggactccagaacaaccactgggtcctacatcgccaatcgagtgactgacaagctgacacctattcacgaccgcattttctgctgtcgctcaggctcagctgctgatacccaggcagtagctgatgctgtcacctaccagctcggtttccacagcattgaactgaatgagcctccactggtccacacagcagccagcctctttaaggagatgtgttaccgataccgggaagacctgatggcgggaatcatcatcgcaggctgggaccctcaagaaggagggcaggtgtactcagtgcctatggggggtatgatggtaaggcagtcctttgccattggaggctccgggagctcctacatctatggctatgttgatgctacctaccgggaaggcatgaccaaggaagagtgtctgcaattcactgccaatgctttcttcttttatccacagctctcgctttggccatggagcgggatggctccagtggaggagtgatccgcctggcagccattgcagagtcaggggtagagcggcaagtacttttgggagaccagatacccaaattcgccgttgccactttaccacccgcctgaatcctgggattctagtatgcaataagagatgccctgtactgatgcaaaatttaataaagtttgtcacagagaatctttgtaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5694 -> Molecular function: GO:0004175 [endopeptidase activity] evidence: NAS
GeneID:5694 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
GeneID:5694 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
GeneID:5694 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
GeneID:5694 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:5694 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:5694 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
GeneID:5694 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: NAS
GeneID:5694 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
GeneID:5694 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:5694 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:5694 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:5694 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:5694 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:5694 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5694 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5694 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5694 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:5694 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5694 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
GeneID:5694 -> Cellular component: GO:0005839 [proteasome core complex] evidence: NAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001257410 -> EC 3.4.25.1
by
@meso_cacase at
DBCLS
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