2024-04-26 11:15:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001143937 926 bp mRNA linear PRI 29-JUN-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 3, mRNA. ACCESSION NM_001143937 VERSION NM_001143937.1 GI:221316715 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 926) AUTHORS Sherva,R., Tripodis,Y., Bennett,D.A., Chibnik,L.B., Crane,P.K., de Jager,P.L., Farrer,L.A., Saykin,A.J., Shulman,J.M. and Green,R.C. CONSRTM The GENAROADS Consortium, and The Alzheimer's Disease Neuroimaging Initiative TITLE Genome-wide association study of the rate of cognitive decline in Alzheimer's disease JOURNAL Alzheimers Dement (2013) In press PUBMED 23535033 REMARK Publication Status: Available-Online prior to print REFERENCE 2 (bases 1 to 926) AUTHORS Yokota,N., Kataoka,Y., Hashii,N., Kawasaki,N. and Sawada,H. TITLE Sperm-specific C-terminal processing of the proteasome PSMA1/alpha6 subunit JOURNAL Biochem. Biophys. Res. Commun. 410 (4), 809-815 (2011) PUBMED 21703233 REMARK GeneRIF: LC/MS/MS analysis revealed that the C-terminal 16 residues of sperm alpha6 subunit are processed. REFERENCE 3 (bases 1 to 926) AUTHORS Zhang,Y., Jia,L., Lee,S.J. and Wang,M.M. TITLE Conserved signal peptide of Notch3 inhibits interaction with proteasome JOURNAL Biochem. Biophys. Res. Commun. 355 (1), 245-251 (2007) PUBMED 17292860 REMARK Erratum:[Biochem Biophys Res Commun. 2007 Aug 3;359(3):840] REFERENCE 4 (bases 1 to 926) AUTHORS Apcher,G.S., Maitland,J., Dawson,S., Sheppard,P. and Mayer,R.J. TITLE The alpha4 and alpha7 subunits and assembly of the 20S proteasome JOURNAL FEBS Lett. 569 (1-3), 211-216 (2004) PUBMED 15225636 REFERENCE 5 (bases 1 to 926) AUTHORS Jayarapu,K. and Griffin,T.A. TITLE Protein-protein interactions among human 20S proteasome subunits and proteassemblin JOURNAL Biochem. Biophys. Res. Commun. 314 (2), 523-528 (2004) PUBMED 14733938 REFERENCE 6 (bases 1 to 926) AUTHORS Silva Pereira,I., Bey,F., Coux,O. and Scherrer,K. TITLE Two mRNAs exist for the Hs PROS-30 gene encoding a component of human prosomes JOURNAL Gene 120 (2), 235-242 (1992) PUBMED 1398136 REFERENCE 7 (bases 1 to 926) AUTHORS Shimbara,N., Orino,E., Sone,S., Ogura,T., Takashina,M., Shono,M., Tamura,T., Yasuda,H., Tanaka,K. and Ichihara,A. TITLE Regulation of gene expression of proteasomes (multi-protease complexes) during growth and differentiation of human hematopoietic cells JOURNAL J. Biol. Chem. 267 (25), 18100-18109 (1992) PUBMED 1517242 REFERENCE 8 (bases 1 to 926) AUTHORS Kanayama,H., Tanaka,K., Aki,M., Kagawa,S., Miyaji,H., Satoh,M., Okada,F., Sato,S., Shimbara,N. and Ichihara,A. TITLE Changes in expressions of proteasome and ubiquitin genes in human renal cancer cells JOURNAL Cancer Res. 51 (24), 6677-6685 (1991) PUBMED 1660345 REFERENCE 9 (bases 1 to 926) 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 926) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA549688.1 and AK303565.1. 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]. Transcript Variant: This variant (3) differs at both the 5' and 3' termini, compared to variant 1. The encoded isoform (3) has a shorter N- and 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 :: AK303565.1, BX399819.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-63 DA549688.1 1-63 64-926 AK303565.1 1-863 FEATURES Location/Qualifiers source 1..926 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.1" gene 1..926 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /note="proteasome (prosome, macropain) subunit, alpha type, 1" /db_xref="GeneID:5682" /db_xref="HGNC:9530" /db_xref="MIM:602854" exon 1..149 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /inference="alignment:Splign:1.39.8" variation complement(28) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="g" /db_xref="dbSNP:373152197" variation complement(94) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:145019659" variation complement(120) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:141091354" CDS 147..539 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /EC_number="3.4.25.1" /note="isoform 3 is encoded by transcript variant 3; proteasome subunit nu; macropain subunit nu; protein P30-33K; proteasome component C2; multicatalytic endopeptidase complex subunit C2; proteasome nu chain; 30 kDa prosomal protein; proteasome subunit, alpha-type, 1; proteasome subunit alpha type-1; PROS-30; macropain subunit C2" /codon_start=1 /product="proteasome subunit alpha type-1 isoform 3" /protein_id="NP_001137409.1" /db_xref="GI:221316716" /db_xref="GeneID:5682" /db_xref="HGNC:9530" /db_xref="MIM:602854" /translation="
MFRNQYDNDVTVWSPQGRIHQIEYAMEAVKQGSATVGLKSKTHAVLVALKRAQSELAAHQKKILHVDNHIGISIAGLTADARLLCNFMRQECLDSRFVFDRPLPVSRLVSLIGSSILFMLAFMDMNFEGF
" misc_feature 162..>488 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /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:212223" misc_feature 186..188 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P25786.1); phosphorylation site" misc_feature order(243..245,291..293,297..299,330..332) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /note="active site" /db_xref="CDD:48436" exon 150..194 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /inference="alignment:Splign:1.39.8" exon 195..296 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /inference="alignment:Splign:1.39.8" variation complement(197) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="c" /db_xref="dbSNP:371717310" variation complement(256) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="g" /replace="t" /db_xref="dbSNP:17850016" exon 297..400 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /inference="alignment:Splign:1.39.8" variation complement(300) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:367562480" variation complement(302) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:199580522" variation complement(353) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:200679624" exon 401..926 /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /inference="alignment:Splign:1.39.8" variation complement(407) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:375174453" variation complement(412) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:371834255" variation complement(419) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:368679260" variation complement(453) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:201130084" variation complement(461) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:145725506" variation complement(502) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:377316820" variation complement(519) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:372721021" variation complement(540) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:4328177" variation complement(686) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:141459910" variation complement(717) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="c" /db_xref="dbSNP:113120563" variation complement(721) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="c" /replace="t" /db_xref="dbSNP:112582978" variation complement(795) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:368782604" variation complement(824) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:367610062" variation complement(843) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:111458191" variation complement(863) /gene="PSMA1" /gene_synonym="HC2; NU; PROS30" /replace="a" /replace="g" /db_xref="dbSNP:146058891" ORIGIN
gatatctctggaatagactgcgctaccctgcgccgccgccgtcaaactcccgcagacttctctgtagatcgctgagcgatactttcggcagcacctccttgattctcagttttgctggaggccgcaaccaggcccgcgccgccaccatgtttcgaaatcagtatgacaatgatgtcactgtttggagcccccagggcaggattcatcaaattgaatatgcaatggaagctgttaaacaaggttcagccacagttggtctgaaatcaaaaactcatgcagttttggttgcattgaaaagggcgcaatcagagcttgcagctcatcagaaaaaaattctccatgttgacaaccatattggtatctcaattgcggggcttactgctgatgctagactgttatgtaattttatgcgtcaggagtgtttggattccagatttgtattcgatagaccactgcctgtgtctcgtcttgtatctctaattggaagcagtatcctttttatgttagcatttatggatatgaactttgaagggttttgatacttgtgttaattattaggaatataataataatatgacataggtaagattgtgaaaactttaaaacaacaaattggattgctctttcattagcctttataagcaatttatatttgctagacacaaataagcccaacttcaggaaaatcatctaagcatctttttagaggggatttaaagtttcttaatggttctagatgtcccaagaaatcctagaccccttgtatccaaaacaaatcaggttttagatgggaagaaattattttgctggcactctttcttaggttcggtagaaagtcaaacattttatattaggccaaagaaatagtgtcctattgcattatttctctggtggattatgcaacaattaaagaataagccagagac
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5682 -> Molecular function: GO:0003723 [RNA binding] evidence: TAS GeneID:5682 -> Molecular function: GO:0004298 [threonine-type endopeptidase activity] evidence: IEA GeneID:5682 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:5682 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:5682 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:5682 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:5682 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:5682 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:5682 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:5682 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:5682 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:5682 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:5682 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:5682 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:5682 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:5682 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:5682 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5682 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5682 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:5682 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:5682 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5682 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:5682 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:5682 -> Cellular component: GO:0005813 [centrosome] evidence: IDA GeneID:5682 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:5682 -> Cellular component: GO:0005839 [proteasome core complex] evidence: ISS GeneID:5682 -> Cellular component: GO:0005844 [polysome] evidence: TAS GeneID:5682 -> Cellular component: GO:0019773 [proteasome core complex, alpha-subunit complex] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001137409 -> EC 3.4.25.1
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