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2024-03-29 13:46:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002793                938 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens proteasome (prosome, macropain) subunit, beta type, 1
            (PSMB1), mRNA.
ACCESSION   NM_002793
VERSION     NM_002793.3  GI:208431804
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 938)
  AUTHORS   Bradfield,J.P., Qu,H.Q., Wang,K., Zhang,H., Sleiman,P.M., Kim,C.E.,
            Mentch,F.D., Qiu,H., Glessner,J.T., Thomas,K.A., Frackelton,E.C.,
            Chiavacci,R.M., Imielinski,M., Monos,D.S., Pandey,R., Bakay,M.,
            Grant,S.F., Polychronakos,C. and Hakonarson,H.
  TITLE     A genome-wide meta-analysis of six type 1 diabetes cohorts
            identifies multiple associated loci
  JOURNAL   PLoS Genet. 7 (9), E1002293 (2011)
   PUBMED   21980299
REFERENCE   2  (bases 1 to 938)
  AUTHORS   Keutgens,A., Zhang,X., Shostak,K., Robert,I., Olivier,S.,
            Vanderplasschen,A., Chapelle,J.P., Viatour,P., Merville,M.P.,
            Bex,F., Gothot,A. and Chariot,A.
  TITLE     BCL-3 degradation involves its polyubiquitination through a
            FBW7-independent pathway and its binding to the proteasome subunit
            PSMB1
  JOURNAL   J. Biol. Chem. 285 (33), 25831-25840 (2010)
   PUBMED   20558726
  REMARK    GeneRIF: data defined a unique motif of BCL-3 that is needed for
            its recruitment to the proteasome and identified PSMB1 as a key
            protein required for the proteasome-mediated degradation of a
            nuclear and oncogenic IkappaB protein.
REFERENCE   3  (bases 1 to 938)
  AUTHORS   Lu,X.H., Chen,Y., Zhang,M., He,P.C., Wang,H.Y., Ni,Z.F. and Lu,R.
  TITLE     [Influence of As(2)O(3) on proteasome beta(1)-subunit in NB4 cells]
  JOURNAL   Zhongguo Shi Yan Xue Ye Xue Za Zhi 17 (3), 579-582 (2009)
   PUBMED   19549367
  REMARK    GeneRIF: Expression of 26S proteasome beta(1)-subunit in NB4 cells
            increased after incubation with As(2)O(3).
REFERENCE   4  (bases 1 to 938)
  AUTHORS   Chistiakov,D.A., Seryogin,Y.A., Turakulov,R.I., Savost'anov,K.V.,
            Titovich,E.V., Zilberman,L.I., Kuraeva,T.L., Dedov,I.I. and
            Nosikov,V.V.
  TITLE     Evaluation of IDDM8 susceptibility locus in a Russian simplex
            family data set
  JOURNAL   J. Autoimmun. 24 (3), 243-250 (2005)
   PUBMED   15848047
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 938)
  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   6  (bases 1 to 938)
  AUTHORS   Okumura,K., Nogami,M., Taguchi,H., Hisamatsu,H. and Tanaka,K.
  TITLE     The genes for the alpha-type HC3 (PMSA2) and beta-type HC5 (PMSB1)
            subunits of human proteasomes map to chromosomes 6q27 and 7p12-p13
            by fluorescence in situ hybridization
  JOURNAL   Genomics 27 (2), 377-379 (1995)
   PUBMED   7558012
REFERENCE   7  (bases 1 to 938)
  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 938)
  AUTHORS   Tamura,T., Osaka,F., Kawamura,Y., Higuti,T., Ishida,N.,
            Nothwang,H.G., Tsurumi,C., Tanaka,K. and Ichihara,A.
  TITLE     Isolation and characterization of alpha-type HC3 and beta-type HC5
            subunit genes of human proteasomes
  JOURNAL   J. Mol. Biol. 244 (1), 117-124 (1994)
   PUBMED   7966316
REFERENCE   9  (bases 1 to 938)
  AUTHORS   Tamura,T., Lee,D.H., Osaka,F., Fujiwara,T., Shin,S., Chung,C.H.,
            Tanaka,K. and Ichihara,A.
  TITLE     Molecular cloning and sequence analysis of cDNAs for five major
            subunits of human proteasomes (multi-catalytic proteinase
            complexes)
  JOURNAL   Biochim. Biophys. Acta 1089 (1), 95-102 (1991)
   PUBMED   2025653
REFERENCE   10 (bases 1 to 938)
  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 BP369175.1, BC020807.1 and
            BQ685374.1.
            On Oct 3, 2008 this sequence version replaced gi:22538462.
            
            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 tightly
            linked to the TBP (TATA-binding protein) gene in human and in
            mouse, and is transcribed in the opposite orientation in both
            species. [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 :: BQ672826.1, BU152996.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                BP369175.1         13-61
            50-910              BC020807.1         1-861
            911-938             BQ685374.1         641-668
FEATURES             Location/Qualifiers
     source          1..938
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..938
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="proteasome (prosome, macropain) subunit, beta type,
                     1"
                     /db_xref="GeneID:5689"
                     /db_xref="HGNC:9537"
                     /db_xref="HPRD:03603"
                     /db_xref="MIM:602017"
     exon            1..200
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     variation       26
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61508644"
     misc_feature    49..51
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="upstream in-frame stop codon"
     variation       82
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10946279"
     CDS             88..813
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /EC_number="3.4.25.1"
                     /note="proteasome subunit HC5; proteasome component C5;
                     macropain subunit C5; proteasome gamma chain;
                     multicatalytic endopeptidase complex subunit C5;
                     proteasome beta 1 subunit"
                     /codon_start=1
                     /product="proteasome subunit beta type-1"
                     /protein_id="NP_002784.1"
                     /db_xref="GI:4506193"
                     /db_xref="CCDS:CCDS34577.1"
                     /db_xref="GeneID:5689"
                     /db_xref="HGNC:9537"
                     /db_xref="HPRD:03603"
                     /db_xref="MIM:602017"
                     /translation="
MLSSTAMYSAPGRDLGMEPHRAAGPLQLRFSPYVFNGGTILAIAGEDFAIVASDTRLSEGFSIHTRDSPKCYKLTDKTVIGCSGFHGDCLTLTKIIEARLKMYKHSNNKAMTTGAIAAMLSTILYSRRFFPYYVYNIIGGLDEEGKGAVYSFDPVGSYQRDSFKAGGSASAMLQPLLDNQVGFKNMQNVEHVPLSLDRAMRLVKDVFISAAERDVYTGDALRICIVTKEGIREETVSLRKD
"
     misc_feature    175..810
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="proteasome beta type-1 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_1; cd03757"
                     /db_xref="CDD:48455"
     misc_feature    196..786
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="proteasome, beta subunit, bacterial type; Region:
                     20S_bact_beta; TIGR03690"
                     /db_xref="CDD:163402"
     misc_feature    order(199..201,247..249,253..255,295..297,589..591,
                     727..729,736..741)
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="active site"
                     /db_xref="CDD:48455"
     misc_feature    order(253..255,262..264,268..285,343..345,349..351,
                     394..396,430..432,439..444,448..453,460..462,469..471,
                     544..546,550..552,556..567,574..576,598..603,607..612,
                     619..627,700..702,721..732,739..744)
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /note="beta subunit interaction site [polypeptide
                     binding]; other site"
                     /db_xref="CDD:48455"
     misc_feature    697..699
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (P20618.2); acetylation site"
     variation       118
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:12717"
     variation       160
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:60257797"
     variation       181
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11548696"
     exon            201..308
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     exon            309..390
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     exon            391..520
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     exon            521..627
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     variation       598
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11548695"
     STS             613..748
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /standard_name="RH93445"
                     /db_xref="UniSTS:87885"
     exon            628..917
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /inference="alignment:Splign:1.39.8"
     STS             709..848
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /standard_name="RH17360"
                     /db_xref="UniSTS:21586"
     variation       710
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:10541"
     variation       740
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:10334"
     variation       908
                     /gene="PSMB1"
                     /gene_synonym="HC5; PMSB1; PSC5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:60070215"
ORIGIN      
gagaagccggaagtggcgtaacgtccggtcaaggcagccatctcgccgtgagacagcaagtgtcggatccgcaggcgcagccgtgcgatgttgtcctctacagccatgtattcggctcctggcagagacttggggatggaaccgcacagagccgcgggccctttgcagctgcgattttcgccctacgttttcaacggaggtactatactggcaattgctggagaagattttgcaattgttgcttctgatactcgattgagtgaagggttttcaattcatacgcgggatagccccaaatgttacaaattaacagacaaaacagtcattggatgcagcggttttcatggagactgtcttacgctgacaaagattattgaagcaagactaaagatgtataagcattccaataataaggccatgactacgggggcaattgctgcaatgctgtctacaatcctgtattcaaggcgcttctttccatactatgtttacaacatcatcggtggacttgatgaagaaggaaagggggctgtatacagctttgatccagtagggtcttaccagagagactccttcaaggctggaggctcagcaagtgccatgctacagcccctgcttgacaaccaggttggttttaagaacatgcagaatgtggagcatgttccgctgtccttggacagagccatgcggctggtgaaagatgtcttcatttctgcggctgagagagatgtgtacactggggacgcactccggatctgcatagtgaccaaagagggcatcagggaggaaactgtttccttaaggaaggactgatctgtgtgctcttatcaccaatcagttcagacctggttgattttgtactttggaactgtaccttggatggttttgtttattaaaagagaaacctgaagtactcaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5689 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
            GeneID:5689 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5689 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
            GeneID:5689 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
            GeneID:5689 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
            GeneID:5689 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
            GeneID:5689 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
            GeneID:5689 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
            GeneID:5689 -> Biological process: GO:0010467 [gene expression] evidence: TAS
            GeneID:5689 -> Biological process: GO:0016032 [viral process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
            GeneID:5689 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
            GeneID:5689 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:5689 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
            GeneID:5689 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
            GeneID:5689 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
            GeneID:5689 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS
            GeneID:5689 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
            GeneID:5689 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:5689 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_002784 -> EC 3.4.25.1

by @meso_cacase at DBCLS
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