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2024-04-20 11:47:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199774 3758 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5
(PSMA5), transcript variant 4, mRNA.
ACCESSION NM_001199774
VERSION NM_001199774.1 GI:315138984
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 3758)
AUTHORS Kottgen,A., Pattaro,C., Boger,C.A., Fuchsberger,C., Olden,M.,
Glazer,N.L., Parsa,A., Gao,X., Yang,Q., Smith,A.V., O'Connell,J.R.,
Li,M., Schmidt,H., Tanaka,T., Isaacs,A., Ketkar,S., Hwang,S.J.,
Johnson,A.D., Dehghan,A., Teumer,A., Pare,G., Atkinson,E.J.,
Zeller,T., Lohman,K., Cornelis,M.C., Probst-Hensch,N.M.,
Kronenberg,F., Tonjes,A., Hayward,C., Aspelund,T., Eiriksdottir,G.,
Launer,L.J., Harris,T.B., Rampersaud,E., Mitchell,B.D.,
Arking,D.E., Boerwinkle,E., Struchalin,M., Cavalieri,M.,
Singleton,A., Giallauria,F., Metter,J., de Boer,I.H.,
Haritunians,T., Lumley,T., Siscovick,D., Psaty,B.M.,
Zillikens,M.C., Oostra,B.A., Feitosa,M., Province,M., de
Andrade,M., Turner,S.T., Schillert,A., Ziegler,A., Wild,P.S.,
Schnabel,R.B., Wilde,S., Munzel,T.F., Leak,T.S., Illig,T.,
Klopp,N., Meisinger,C., Wichmann,H.E., Koenig,W., Zgaga,L.,
Zemunik,T., Kolcic,I., Minelli,C., Hu,F.B., Johansson,A., Igl,W.,
Zaboli,G., Wild,S.H., Wright,A.F., Campbell,H., Ellinghaus,D.,
Schreiber,S., Aulchenko,Y.S., Felix,J.F., Rivadeneira,F.,
Uitterlinden,A.G., Hofman,A., Imboden,M., Nitsch,D.,
Brandstatter,A., Kollerits,B., Kedenko,L., Magi,R., Stumvoll,M.,
Kovacs,P., Boban,M., Campbell,S., Endlich,K., Volzke,H.,
Kroemer,H.K., Nauck,M., Volker,U., Polasek,O., Vitart,V.,
Badola,S., Parker,A.N., Ridker,P.M., Kardia,S.L., Blankenberg,S.,
Liu,Y., Curhan,G.C., Franke,A., Rochat,T., Paulweber,B.,
Prokopenko,I., Wang,W., Gudnason,V., Shuldiner,A.R., Coresh,J.,
Schmidt,R., Ferrucci,L., Shlipak,M.G., van Duijn,C.M., Borecki,I.,
Kramer,B.K., Rudan,I., Gyllensten,U., Wilson,J.F., Witteman,J.C.,
Pramstaller,P.P., Rettig,R., Hastie,N., Chasman,D.I., Kao,W.H.,
Heid,I.M. and Fox,C.S.
TITLE New loci associated with kidney function and chronic kidney disease
JOURNAL Nat. Genet. 42 (5), 376-384 (2010)
PUBMED 20383146
REFERENCE 2 (bases 1 to 3758)
AUTHORS Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
TITLE A probability-based approach for high-throughput protein
phosphorylation analysis and site localization
JOURNAL Nat. Biotechnol. 24 (10), 1285-1292 (2006)
PUBMED 16964243
REFERENCE 3 (bases 1 to 3758)
AUTHORS Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
Kim,N.S.
TITLE Transcriptome analysis of human gastric cancer
JOURNAL Mamm. Genome 16 (12), 942-954 (2005)
PUBMED 16341674
REFERENCE 4 (bases 1 to 3758)
AUTHORS Hirano,Y., Hendil,K.B., Yashiroda,H., Iemura,S., Nagane,R.,
Hioki,Y., Natsume,T., Tanaka,K. and Murata,S.
TITLE A heterodimeric complex that promotes the assembly of mammalian 20S
proteasomes
JOURNAL Nature 437 (7063), 1381-1385 (2005)
PUBMED 16251969
REFERENCE 5 (bases 1 to 3758)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 6 (bases 1 to 3758)
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 7 (bases 1 to 3758)
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 8 (bases 1 to 3758)
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 9 (bases 1 to 3758)
AUTHORS Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and
Vandekerckhove,J.
TITLE Microsequences of 145 proteins recorded in the two-dimensional gel
protein database of normal human epidermal keratinocytes
JOURNAL Electrophoresis 13 (12), 960-969 (1992)
PUBMED 1286667
REFERENCE 10 (bases 1 to 3758)
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
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC324021.1, BM793388.1,
AL390252.9 and H08369.1.
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 peptidase T1A family, that is a 20S core alpha
subunit. Multiple alternatively spliced transcript variants
encoding two distinct isoforms have been found for this gene.
[provided by RefSeq, Dec 2010].
Transcript Variant: This variant (4) has an alternate 5' UTR exon,
resulting in a downstream AUG start codon, as compared to variant
1. The resulting isoform (2) is shorter at the N-terminus, as
compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: BM793388.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-48 DC324021.1 1-48
49-695 BM793388.1 1-647
696-3585 AL390252.9 152442-155331 c
3586-3758 H08369.1 1-173 c
FEATURES Location/Qualifiers
source 1..3758
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p13"
gene 1..3758
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/note="proteasome (prosome, macropain) subunit, alpha
type, 5"
/db_xref="GeneID:5686"
/db_xref="HGNC:9534"
/db_xref="MIM:176844"
exon 1..67
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
misc_feature 15..17
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/note="upstream in-frame stop codon"
exon 68..134
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
exon 135..261
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
CDS 213..764
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/EC_number="3.4.25.1"
/note="isoform 2 is encoded by transcript variant 4;
macropain subunit zeta; proteasome subunit zeta;
proteasome zeta chain; macropain zeta chain;
multicatalytic endopeptidase complex zeta chain;
proteasome component 5; proteasome subunit alpha type-5;
proteasome alpha 5 subunit"
/codon_start=1
/product="proteasome subunit alpha type-5 isoform 2"
/protein_id="NP_001186703.1"
/db_xref="GI:315138985"
/db_xref="CCDS:CCDS55619.1"
/db_xref="GeneID:5686"
/db_xref="HGNC:9534"
/db_xref="MIM:176844"
/translation="
MEPSSIEKIVEIDAHIGCAMSGLIADAKTLIDKARVETQNHWFTYNETMTVESVTQAVSNLALQFGEEDADPGAMSRPFGVALLFGGVDEKGPQLFHMDPSGTFVQCDARAIGSASEGAQSSLQEVYHKSMTLKEAIKSSLIILKQVMEEKLNATNIELATVQPGQNFHMFTKEELEEVIKDI
"
misc_feature <213..698
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/note="The Ntn hydrolases (N-terminal nucleophile) are a
diverse superfamily of of enzymes that are activated
autocatalytically via an N-terminally lcated nucleophilic
amino acid. N-terminal nucleophile (NTN-) hydrolase
superfamily, which contains a...; Region: Ntn_hydrolase;
cl00467"
/db_xref="CDD:241884"
exon 262..329
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
variation 279
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="c"
/replace="t"
/db_xref="dbSNP:11544739"
exon 330..437
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
exon 438..496
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
exon 497..599
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
exon 600..686
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
exon 687..3746
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/inference="alignment:Splign:1.39.8"
variation 958
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="c"
/replace="t"
/db_xref="dbSNP:199915183"
STS 2222..2429
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/standard_name="D1S1985E"
/db_xref="UniSTS:151310"
STS 2336..2414
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/standard_name="SHGC-75266"
/db_xref="UniSTS:47056"
STS 2835..3081
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/standard_name="RH64702"
/db_xref="UniSTS:88050"
variation 2980
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="c"
/replace="t"
/db_xref="dbSNP:72646546"
variation 3408
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="a"
/replace="t"
/db_xref="dbSNP:72646547"
variation 3434
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="a"
/replace="g"
/db_xref="dbSNP:72646548"
STS 3481..3674
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/standard_name="SHGC-75262"
/db_xref="UniSTS:56380"
variation 3525
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="c"
/replace="t"
/db_xref="dbSNP:72646549"
variation 3580
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/replace="g"
/replace="t"
/db_xref="dbSNP:72646550"
STS 3584..3708
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
/standard_name="WI-14018"
/db_xref="UniSTS:10538"
polyA_signal 3714..3719
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
polyA_site 3746
/gene="PSMA5"
/gene_synonym="PSC5; ZETA"
ORIGIN
acaggagggcgggctaaagaggtcgcggtcgcacgcgcagttggtccttagtactgcggccgtgtgggggcgtgaatactttttctcccgaaggaagattatttcaagtggaatatgccattgaggctatcaagcttggttctacagccattgggatccagacatcagagggtgtgtgcctagctgtggagaagagaattacttccccactgatggagcccagcagcattgagaaaattgtagagattgatgctcacataggttgtgccatgagtgggctaattgctgatgctaagactttaattgataaagccagagtggagacacagaaccactggttcacctacaatgagacaatgacagtggagagtgtgacccaagctgtgtccaatctggctttgcagtttggagaagaagatgcagatccaggtgccatgtctcgtccctttggagtagcattattatttggaggagttgatgagaaaggaccccagctgtttcatatggacccatctgggacctttgtacagtgtgatgctcgagcaattggctctgcttcagagggtgcccagagctccttgcaagaagtttaccacaagtctatgactttgaaagaagccatcaagtcttcactcatcatcctcaaacaagtaatggaggagaagctgaatgcaacaaacattgagctagccacagtgcagcctggccagaatttccacatgttcacaaaggaagaacttgaagaggttatcaaggacatttaaggaatcctgatcctcagaacttctctgggacaatttcagttctaataatgtccttaaattttatttccagctcctgttccttggaaaatctccattgtatgtgcattttttaaatgatgtctgtacataaaggcagttctgaaataaagaaaattttaaaatatttgttaatagactgttctcttctaatagtcttttttttttttttttttttaagagatgaggtctcactatattgcccaggctggtttcaaactcctgggttcaagtgatcttcccgcctctgcctcctgaagtgctaggattataggcgagagccactgtgcccagccattgtaatacagtcttttgtttgaaatgcaaatgttagtgggccaaaaggacagtgttattaatatccctattctatgaagatgtctgttctaaaactgttttagtgatgctctataacagaatcaactatatccattaatcccatggtgttgataaatgaactagtccagctcttcccagtggttaatagatgttaacagcactgtaaatccatttcggccctataatttctggagcaaacgtgtatttttgctgcttttcttataaggagatgctactaattgactatcagaagaacatgttttgaggtcctcctcaaaacattgatgggttggaatcagccatcaacagtgttgtaccagttcttgggtcttgatagacaatttggaaagagatttccttgtttacgaagtgaaggactaagaattaaattaatgaccttggcctcactggcaatcaattacaaatctctatatcagtaagagaattgtaaaattcagaagcagtttacattagactttggaatgaatgatgaactttccccattagagctgccatcatatgattggtggagattgtttaaagaatcattctatctcagcctcaaaaattaccacgggaagatggtatcagtatcactacttaacagatgaagaatctaatgctgtgtgcccatggacacacaaaattaagctgttgggacttgaacagctcaaattttcttgtttcagatcaccagctcttgagtaatagggaaatctggagatttgaaaagtacttgcactgtccacaacatggctaatccatatgtggatgatgcagaattgatttaattcactaacagggaccccataattatttgctgggctctgggtatattgatgtgtaggaagttgtactatatgttaataaattatgactatttggataggctgaattcatactaaatccatactgtagttcaacaaaaaacaacatgtttatatacatttggaaactgcaatgataggaaacatttggaagaaagggattttgccctagaataacacataaggaaagcagagaattagagtatattgttactgaatgttccagagacttctagtgattttaacacttattaagtatagcatgttgatggggagatttgtttctctaaagatcactttgttttattaaatcctaatagaaaatacccttgaaaatcctatctcatttattcctgtaacaaatttattgagcacctacctactatatgccaagaaatgtattagccatcaggcagagagctgttcaaatggtagatatgatctgtgctcctgtgaaacttctagtggggagagccaaacaataaacaatattcctttttaactctaggttaatgcagaaatggataaagcccatgttgcttttgggagaggtgagttgtgtctctgaatcacatgcatttcatagggggaaaaatgcccaaatactaaggagtagctcttagcctatgtccgttcgcctcagcttaagttgttttccctcccactggctgggcagcatatttgtgttttacctggtaaaacagtaaatttcgtaccttctataattggcattcttcaaagaggtagaactttgatttttttgtagaatattaaaacaagctttcttaggttaaagaagtgatcttactacgaacagcaatggtttcatgatgtgtaattgctttatgttatctttctgctatagaatgtttcctggagaaaggtacggtttttagtaataagataaatttactttagtcctgcaaataaggtgaaatcttatgtccagtatctcacaaaggagaactgacagtgccacttttatatttaatgtcaatctcattagacaaaaatgaaatatagttcctagggtttccaatttaaaaagtgaaataataaatatattcactcaaacattttctcagtgccatatgcaagttaccatgtcccagaagctgatacagtttgaagaaggaaatatataagtactgtaagcctgtgataactaaaagcaacatactaaaaagtgaaggtacagataattggaacaaatttaatagcgtttaaaagtgtatttggtaatttctccaggaggtggcactgttgagttgttttttcttttcagacagtaagacaatagaccattcatctttgtgtcacccaaacaaagaaatattcctttataaccccctttcctccccccacctaatcacatgctactggaactgactgtcttgtgatctactcccatagttggcatagatttaaaaataatcttttttaaattaatctgatagtagttatggaaaggaacaaattgttcaccaattttcatcagctttatcttttcagtccagtaactgagaacttaaaaagactattctagtgattttactatcctgctcagatggcattcaaaaacatttttcacttctcacgtcttggaaaaatttgtaaattcgttaagtctttttgtttgaaagttaatgtgactggaaatattttaatgtaaatatcgggttgggtgcattgtatcattttgctctacaatgactatatcctcatttgggtttatggccagtttataattaaaagtaatctttacttgctttgagtgtaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5686 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA
GeneID:5686 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5686 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS
GeneID:5686 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS
GeneID:5686 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:5686 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:5686 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS
GeneID:5686 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS
GeneID:5686 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:5686 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:5686 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS
GeneID:5686 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:5686 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5686 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5686 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS
GeneID:5686 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS
GeneID:5686 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:5686 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:5686 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:5686 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:5686 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5686 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS
GeneID:5686 -> Cellular component: GO:0019773 [proteasome core complex, alpha-subunit complex] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001186703 -> EC 3.4.25.1
by
@meso_cacase at
DBCLS
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