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2024-04-25 17:50:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001130725 958 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 5
(PSMB5), transcript variant 2, mRNA.
ACCESSION NM_001130725
VERSION NM_001130725.1 GI:195539355
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 958)
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 958)
AUTHORS Tomaru,U., Yamada,Y., Ishizu,A., Kuroda,T., Matsuno,Y. and
Kasahara,M.
TITLE Proteasome subunit beta5t expression in cervical ectopic thymoma
JOURNAL J. Clin. Pathol. 65 (9), 858-859 (2012)
PUBMED 22523338
REMARK GeneRIF: Letter/Case Reports: proteasome subunit beta5t is
expressed in cervical ectopic thymoma.
REFERENCE 3 (bases 1 to 958)
AUTHORS Wang,M.X., Shi,N., Wang,C.L., Zhang,N., Ping,X.J., Liu,Y.L. and
Zhang,J.M.
TITLE [Expression of proteasome beta5 subunit in human atherosclerotic
plaque]
JOURNAL Zhonghua Yi Xue Za Zhi 92 (16), 1122-1125 (2012)
PUBMED 22781773
REMARK GeneRIF: The expression of proteasome beta5 decreases markedly in
human atherosclerotic plaques.
REFERENCE 4 (bases 1 to 958)
AUTHORS Balsas,P., Galan-Malo,P., Marzo,I. and Naval,J.
TITLE Bortezomib resistance in a myeloma cell line is associated to
PSMbeta5 overexpression and polyploidy
JOURNAL Leuk. Res. 36 (2), 212-218 (2012)
PUBMED 21978467
REMARK GeneRIF: PSMB5 overexpression is associated with Bortezomib
resistance in myeloma.
REFERENCE 5 (bases 1 to 958)
AUTHORS Shuqing,L., Jianmin,Y., Chongmei,H., Hui,C. and Wang,J.
TITLE Upregulated expression of the PSMB5 gene may contribute to drug
resistance in patient with multiple myeloma when treated with
bortezomib-based regimen
JOURNAL Exp. Hematol. 39 (12), 1117-1118 (2011)
PUBMED 21920470
REMARK GeneRIF: No mutations or differences in PSMB5 mRNA expression were
seen before bortezomib treatment in 3 multiple myeloma patients,
but after treatment, 1 patient showed PSMB5 upregulation associated
with bortezomib resistance.
REFERENCE 6 (bases 1 to 958)
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. 207 (3), 1059 (1995)
PUBMED 7864893
REMARK Correction to:[Biochem Biophys Res Commun. 1994 Dec
30;205(3):1785-9. PMID: 7811265]
REFERENCE 7 (bases 1 to 958)
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 958)
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 9 (bases 1 to 958)
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 10 (bases 1 to 958)
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 CD048996.1, BU539357.1,
BC107720.1 and BU632351.1.
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 in the proteasome. This
catalytic subunit is not present in the immunoproteasome and is
replaced by catalytic subunit 3i (proteasome beta 8 subunit).
Multiple transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq, Jan 2009].
Transcript Variant: This variant (2) uses a different segment for
its 5' UTR and lacks the 5' end of the coding region, compared to
variant 1. The encoded protein (isoform 2) results from the use of
a downstream start codon and is shorter when it is 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 :: CD048996.1, BU539357.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-24 CD048996.1 33-56
25-791 BU539357.1 1-767
792-936 BC107720.1 896-1040
937-958 BU632351.1 1-22 c
FEATURES Location/Qualifiers
source 1..958
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q11.2"
gene 1..958
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/note="proteasome (prosome, macropain) subunit, beta type,
5"
/db_xref="GeneID:5693"
/db_xref="HGNC:9542"
/db_xref="MIM:600306"
exon 1..109
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/inference="alignment:Splign:1.39.8"
misc_feature 89..91
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/note="upstream in-frame stop codon"
exon 110..416
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/inference="alignment:Splign:1.39.8"
CDS 221..703
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/EC_number="3.4.25.1"
/note="isoform 2 is encoded by transcript variant 2;
proteasome subunit MB1; PSX large multifunctional protease
X; proteasome epsilon chain; macropain epsilon chain;
multicatalytic endopeptidase complex epsilon chain;
proteasome chain 6; proteasome catalytic subunit 3;
proteasome subunit, beta type, 5; proteasome subunit X;
proteasome subunit beta type-5; proteasome beta 5 subunit"
/codon_start=1
/product="proteasome subunit beta type-5 isoform 2"
/protein_id="NP_001124197.1"
/db_xref="GI:195539356"
/db_xref="CCDS:CCDS45083.1"
/db_xref="GeneID:5693"
/db_xref="HGNC:9542"
/db_xref="MIM:600306"
/translation="
MAGGAADCSFWERLLARQCRIYELRNKERISVAAASKLLANMVYQYKGMGLSMGTMICGWDKRGPGLYYVDSEGNRISGATFSVGSGSVYAYGVMDRGYSYDLEVEQAYDLARRAIYQATYRDAYSGGAVNLYHVREDGWIRVSSDNVADLHEKYSGSTP
"
misc_feature <221..652
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/note="proteasome beta type-5 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_5; cd03761"
/db_xref="CDD:48459"
misc_feature order(233..235,239..241,284..286,320..322,329..334,
338..343,350..352,359..361,431..433,437..439,443..454,
461..463,485..490,494..499,506..514,560..562,581..592,
599..604)
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/note="beta subunit interaction site [polypeptide
binding]; other site"
/db_xref="CDD:48459"
misc_feature order(476..478,587..589,596..601)
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/note="active site"
/db_xref="CDD:48459"
exon 417..941
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/inference="alignment:Splign:1.39.8"
variation 459
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="a"
/replace="c"
/db_xref="dbSNP:58556496"
variation 499
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="c"
/replace="g"
/db_xref="dbSNP:57148615"
variation 527
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="a"
/replace="c"
/db_xref="dbSNP:12043"
variation 546
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="a"
/replace="g"
/db_xref="dbSNP:60224002"
variation 623
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="a"
/replace="g"
/db_xref="dbSNP:56688661"
STS 676..903
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/standard_name="HUM00D0F11"
/db_xref="UniSTS:70226"
STS 680..886
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/standard_name="SHGC-132389"
/db_xref="UniSTS:170812"
STS 705..916
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/standard_name="WI-7398"
/db_xref="UniSTS:12224"
variation 732
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="c"
/replace="t"
/db_xref="dbSNP:58302037"
variation 758
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace="a"
/replace="g"
/db_xref="dbSNP:2230087"
variation 849..850
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
/replace=""
/replace="at"
/db_xref="dbSNP:58831036"
polyA_site 936
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
polyA_site 941
/gene="PSMB5"
/gene_synonym="LMPX; MB1; X"
ORIGIN
atggccgacctcacttcccttacgcaacatggacgttttcagtcacttcctgtgattttgaggttattctgatccaggactacttgcatgaccaaagccaagatggcagttccgccatggagtcatagttgcagctgactccagggctacagcgggtgcttacattgcctcccagacggtgaagaaggtgatagagatcaacccatacctgctaggcaccatggctgggggcgcagcggattgcagcttctgggaacggctgttggctcggcaatgtcgaatctatgagcttcgaaataaggaacgcatctctgtagcagctgcctccaaactgcttgccaacatggtgtatcagtacaaaggcatggggctgtccatgggcaccatgatctgtggctgggataagagaggccctggcctctactacgtggacagtgaagggaaccggatttcaggggccaccttctctgtaggttctggctctgtgtatgcatatggggtcatggatcggggctattcctatgacctggaagtggagcaggcctatgatctggcccgtcgagccatctaccaagccacctacagagatgcctactcaggaggtgcagtcaacctctaccacgtgcgggaggatggctggatccgagtctccagtgacaatgtggctgatctacatgagaagtatagtggctctaccccctgaaagagggtggatgcagctgcttgtgtttcttggggtgactgtcattggtaatacggacacagtgacccatcctccatcctatttatagtggaagggccttcaattgtatcagtacttttttttaagctctggcacattgacctctatgtgttaccagtcattaatgagctgctgcagaggtgactatttgttttactttcttggatgttaacattacactactcactactcaatctcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5693 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
GeneID:5693 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5693 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
GeneID:5693 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
GeneID:5693 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:5693 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:5693 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
GeneID:5693 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
GeneID:5693 -> Biological process: GO:0006979 [response to oxidative stress] evidence: IEA
GeneID:5693 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:5693 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:5693 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:5693 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:5693 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:5693 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5693 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5693 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5693 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS
GeneID:5693 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:5693 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5693 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001124197 -> EC 3.4.25.1
by
@meso_cacase at
DBCLS
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