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2024-04-24 00:39:38, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004159 1602 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8
(PSMB8), transcript variant 1, mRNA.
ACCESSION NM_004159
VERSION NM_004159.4 GI:73747873
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 1602)
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 1602)
AUTHORS Guillaume,B., Stroobant,V., Bousquet-Dubouch,M.P., Colau,D.,
Chapiro,J., Parmentier,N., Dalet,A. and Van den Eynde,B.J.
TITLE Analysis of the processing of seven human tumor antigens by
intermediate proteasomes
JOURNAL J. Immunol. 189 (7), 3538-3547 (2012)
PUBMED 22925930
REMARK GeneRIF: The MAGE-C(2336-344) antigenic peptide is produced by the
immunoproteasome and intermediate proteasome beta1i-beta5i, but not
by the standard proteasome nor intermediate proteasome beta5i.
REFERENCE 3 (bases 1 to 1602)
AUTHORS Liu,Y., Ramot,Y., Torrelo,A., Paller,A.S., Si,N., Babay,S.,
Kim,P.W., Sheikh,A., Lee,C.C., Chen,Y., Vera,A., Zhang,X.,
Goldbach-Mansky,R. and Zlotogorski,A.
TITLE Mutations in proteasome subunit beta type 8 cause chronic atypical
neutrophilic dermatosis with lipodystrophy and elevated temperature
with evidence of genetic and phenotypic heterogeneity
JOURNAL Arthritis Rheum. 64 (3), 895-907 (2012)
PUBMED 21953331
REMARK GeneRIF: CANDLE syndrome is caused by mutations in PSMB8, a gene
recently reported to cause 'JMP' syndrome in adults.
REFERENCE 4 (bases 1 to 1602)
AUTHORS Fellerhoff,B., Gu,S., Laumbacher,B., Nerlich,A.G., Weiss,E.H.,
Glas,J., Kopp,R., Johnson,J.P. and Wank,R.
TITLE The LMP7-K allele of the immunoproteasome exhibits reduced
transcript stability and predicts high risk of colon cancer
JOURNAL Cancer Res. 71 (23), 7145-7154 (2011)
PUBMED 22037870
REMARK GeneRIF: high risk of colon cancer was associated with LMP7-K/Q
genotype and low risk with LMP7-Q/Q genotype; results suggest the
presence of LMP7-K can reduce formation of immunoproteasomes and
thus peptide processing, followed by reduced peptide-HLA
presentation, a crucial factor in the immune response against
cancer
REFERENCE 5 (bases 1 to 1602)
AUTHORS Ustrell,V., Realini,C., Pratt,G. and Rechsteiner,M.
TITLE Human lymphoblast and erythrocyte multicatalytic proteases:
differential peptidase activities and responses to the 11S
regulator
JOURNAL FEBS Lett. 376 (3), 155-158 (1995)
PUBMED 7498531
REFERENCE 6 (bases 1 to 1602)
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 1602)
AUTHORS Meinhardt,T., Graf,U. and Hammerling,G.J.
TITLE Different genomic structure of mouse and human Lmp7 genes:
characterization of MHC-encoded proteasome genes
JOURNAL Immunogenetics 38 (5), 373-379 (1993)
PUBMED 8344725
REFERENCE 8 (bases 1 to 1602)
AUTHORS Beck,S., Kelly,A., Radley,E., Khurshid,F., Alderton,R.P. and
Trowsdale,J.
TITLE DNA sequence analysis of 66 kb of the human MHC class II region
encoding a cluster of genes for antigen processing
JOURNAL J. Mol. Biol. 228 (2), 433-441 (1992)
PUBMED 1453454
REFERENCE 9 (bases 1 to 1602)
AUTHORS Fruh,K., Yang,Y., Arnold,D., Chambers,J., Wu,L., Waters,J.B.,
Spies,T. and Peterson,P.A.
TITLE Alternative exon usage and processing of the major
histocompatibility complex-encoded proteasome subunits
JOURNAL J. Biol. Chem. 267 (31), 22131-22140 (1992)
PUBMED 1429565
REFERENCE 10 (bases 1 to 1602)
AUTHORS Glynne,R., Powis,S.H., Beck,S., Kelly,A., Kerr,L.A. and
Trowsdale,J.
TITLE A proteasome-related gene between the two ABC transporter loci in
the class II region of the human MHC
JOURNAL Nature 353 (6342), 357-360 (1991)
PUBMED 1922342
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AW242683.1, AA807046.1 and
BC001114.2.
This sequence is a reference standard in the RefSeqGene project.
On Aug 24, 2005 this sequence version replaced gi:34335277.
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 located in
the class II region of the MHC (major histocompatibility complex).
Expression of this gene is induced by gamma interferon and this
gene product replaces catalytic subunit 3 (proteasome beta 5
subunit) in the immunoproteasome. Proteolytic processing is
required to generate a mature subunit. Two alternative transcripts
encoding two isoforms have been identified; both isoforms are
processed to yield the same mature subunit. [provided by RefSeq,
Jul 2008].
Transcript Variant: This variant (1) represents the longer
transcript but encodes the shorter isoform (E1).
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 :: BC001114.2, X62598.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-223 AW242683.1 44-266
224-284 AA807046.1 181-241
285-1602 BC001114.2 1-1318
FEATURES Location/Qualifiers
source 1..1602
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.3"
gene 1..1602
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/note="proteasome (prosome, macropain) subunit, beta type,
8"
/db_xref="GeneID:5696"
/db_xref="HGNC:9545"
/db_xref="HPRD:01515"
/db_xref="MIM:177046"
exon 1..657
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
variation 131
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="a"
/replace="g"
/db_xref="dbSNP:2127673"
variation 185
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="a"
/replace="g"
/db_xref="dbSNP:2071463"
misc_feature 340..342
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/note="upstream in-frame stop codon"
variation 385
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="a"
/replace="g"
/db_xref="dbSNP:11540144"
CDS 523..1341
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/EC_number="3.4.25.1"
/note="isoform E1 proprotein is encoded by transcript
variant 1; proteasome catalytic subunit 3i; proteasome
subunit beta 5i; proteasome subunit Y2; low molecular
weight protein 7; proteasome-related gene 7; proteasome
(prosome, macropain) subunit, beta type, 8 (large
multifunctional peptidase 7); multicatalytic endopeptidase
complex subunit C13; macropain subunit C13; protease
component C13; proteasome component C13; really
interesting new gene 10 protein; low molecular mass
protein 7"
/codon_start=1
/product="proteasome subunit beta type-8 isoform E1
proprotein"
/protein_id="NP_004150.1"
/db_xref="GI:4758970"
/db_xref="CCDS:CCDS4756.1"
/db_xref="GeneID:5696"
/db_xref="HGNC:9545"
/db_xref="HPRD:01515"
/db_xref="MIM:177046"
/translation="
MLIGTPTPRDTTPSSWLTSSLLVEAAPLDDTTLPTPVSSGCPGLEPTEFFQSLGGDGERNVQIEMAHGTTTLAFKFQHGVIAAVDSRASAGSYISALRVNKVIEINPYLLGTMSGCAADCQYWERLLAKECRLYYLRNGERISVSAASKLLSNMMCQYRGMGLSMGSMICGWDKKGPGLYYVDEHGTRLSGNMFSTGSGNTYAYGVMDSGYRPNLSPEEAYDLGRRAIAYATHRDSYSGGVVNMYHMKEDGWVKVESTDVSDLLHQYREANQ
"
misc_feature 646..1323
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/note="Proteasome subunit beta type-5; Provisional;
Region: PTZ00488"
/db_xref="CDD:185666"
mat_peptide 727..1338
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/product="proteasome subunit beta type-8 isoform E1"
misc_feature 727..1290
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/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(727..729,775..777,781..783,823..825,1114..1116,
1225..1227,1234..1239)
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/note="active site"
/db_xref="CDD:48459"
misc_feature order(781..783,790..792,796..813,871..873,877..879,
922..924,958..960,967..972,976..981,988..990,997..999,
1069..1071,1075..1077,1081..1092,1099..1101,1123..1128,
1132..1137,1144..1152,1198..1200,1219..1230,1237..1242)
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/note="beta subunit interaction site [polypeptide
binding]; other site"
/db_xref="CDD:48459"
exon 658..805
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
exon 806..917
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
exon 918..1047
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
variation 1011
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540143"
exon 1048..1252
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
STS 1058..1338
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/standard_name="GDB:545427"
/db_xref="UniSTS:157586"
variation 1155
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="a"
/replace="t"
/db_xref="dbSNP:202180334"
exon 1253..1583
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/inference="alignment:Splign:1.39.8"
STS 1298..1477
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/standard_name="RH46789"
/db_xref="UniSTS:37162"
STS 1329..1477
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/standard_name="D6S2125"
/db_xref="UniSTS:37161"
variation 1381
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/replace="c"
/replace="t"
/db_xref="dbSNP:3200158"
STS 1484..1564
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
/standard_name="RH70734"
/db_xref="UniSTS:77400"
polyA_signal 1560..1565
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
polyA_site 1583
/gene="PSMB8"
/gene_synonym="ALDD; D6S216; D6S216E; JMP; LMP7; NKJO;
PSMB5i; RING10"
ORIGIN
gggcgggcgcggccagagcaagtgccaggcgggaacagagggactgggcgcgcctcacaactcaccacctcgcccgctggtccttcctggctcgcctggctctgaagctgcacctggaggggaaacctcagaacagtaggcgggattgcctagtaaatatctcccattcagggaggcccaggtcgtgtgacgtcgacagttgctgggtagatgaggccaacacaggttgcaagaagaggcggggtttagaggcgtgaaactccgcagtgctcagccaagcagggagcaacgctaggaagggcgggcagaaagggcacgctcttgtgggtgactacaggttaggagaccgttgaacctggaggggccctaggatggaccccgtggaaagattcagagactgcgccctctccctggcgccgccttcccctacacgcggcgggtatattctgttgcagttggcccaggacctgtttccaagactctgccccctcgcacttccgtccctcctggttttgtaaagtgatgctcataggaacccccaccccgcgtgacactactcccagctcctggctgacttctagtcttctggttgaagctgcgcctttagatgacacgaccctacccacccctgtttccagcggatgcccgggcctggagcccacagaattcttccagtccctgggtggggacggagaaaggaacgttcagattgagatggcccatggcaccaccacgctcgccttcaagttccagcatggagtgattgcagcagtggattctcgggcctcagctgggtcctacattagtgccttacgggtgaacaaggtgattgagattaacccttacctgcttggcaccatgtctggctgtgcagcagactgtcagtactgggagcgcctgctggccaaggaatgcaggctgtactatctgcgaaatggagaacgtatttcagtgtcggcagcctccaagctgctgtccaacatgatgtgccagtaccggggcatgggcctctctatgggcagtatgatctgtggctgggataagaagggtcctggactctactacgtggatgaacatgggactcggctctcaggaaatatgttctccacgggtagtgggaacacttatgcctacggggtcatggacagtggctatcggcctaatcttagccctgaagaggcctatgaccttggccgcagggctattgcttatgccactcacagagacagctattctggaggcgttgtcaatatgtaccacatgaaggaagatggttgggtgaaagtagaaagtacagatgtcagtgacctgctgcaccagtaccgggaagccaatcaataatggtggtggtggcagctgggcaggtctcctctgggaggtcttggccgactcagggacctaagccacgttaagtccaaggagaagaagaggcctagcctgagccaaagagagagtacgggctcagcagccagaggaggccggtgaagtgcatcttctgcgtgttctctatttgaacaagcatttcccccagggaagtttctgggtgccccactaagtagaataaagaaaaacggttataaataaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5696 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
GeneID:5696 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5696 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
GeneID:5696 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
GeneID:5696 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:5696 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:5696 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
GeneID:5696 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
GeneID:5696 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:5696 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:5696 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:5696 -> Biological process: GO:0019221 [cytokine-mediated signaling pathway] evidence: TAS
GeneID:5696 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:5696 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:5696 -> Biological process: GO:0045444 [fat cell differentiation] evidence: IMP
GeneID:5696 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5696 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5696 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5696 -> Biological process: GO:0060337 [type I interferon-mediated signaling pathway] evidence: TAS
GeneID:5696 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS
GeneID:5696 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:5696 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5696 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
GeneID:5696 -> Cellular component: GO:1990111 [spermatoproteasome complex] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_004150 -> EC 3.4.25.1
by
@meso_cacase at
DBCLS
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