2024-04-19 11:12:07, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001271781 1242 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 (PSMD6), transcript variant 4, mRNA. ACCESSION NM_001271781 VERSION NM_001271781.1 GI:422398844 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 1242) AUTHORS Tsolou,A., Nelson,G., Trachana,V., Chondrogianni,N., Saretzki,G., von Zglinicki,T. and Gonos,E.S. TITLE The 19S proteasome subunit Rpn7 stabilizes DNA damage foci upon genotoxic insult JOURNAL IUBMB Life 64 (5), 432-442 (2012) PUBMED 22473755 REMARK GeneRIF: interaction of Rpn7 with DNA damage response foci in situ mediates the protection of DNA damage foci from premature resolution. REFERENCE 2 (bases 1 to 1242) AUTHORS Cho,Y.S., Chen,C.H., Hu,C., Long,J., Ong,R.T., Sim,X., Takeuchi,F., Wu,Y., Go,M.J., Yamauchi,T., Chang,Y.C., Kwak,S.H., Ma,R.C., Yamamoto,K., Adair,L.S., Aung,T., Cai,Q., Chang,L.C., Chen,Y.T., Gao,Y., Hu,F.B., Kim,H.L., Kim,S., Kim,Y.J., Lee,J.J., Lee,N.R., Li,Y., Liu,J.J., Lu,W., Nakamura,J., Nakashima,E., Ng,D.P., Tay,W.T., Tsai,F.J., Wong,T.Y., Yokota,M., Zheng,W., Zhang,R., Wang,C., So,W.Y., Ohnaka,K., Ikegami,H., Hara,K., Cho,Y.M., Cho,N.H., Chang,T.J., Bao,Y., Hedman,A.K., Morris,A.P., McCarthy,M.I., Takayanagi,R., Park,K.S., Jia,W., Chuang,L.M., Chan,J.C., Maeda,S., Kadowaki,T., Lee,J.Y., Wu,J.Y., Teo,Y.Y., Tai,E.S., Shu,X.O., Mohlke,K.L., Kato,N., Han,B.G. and Seielstad,M. CONSRTM DIAGRAM Consortium; MuTHER Consortium TITLE Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians JOURNAL Nat. Genet. 44 (1), 67-72 (2012) PUBMED 22158537 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 1242) AUTHORS Gudmundsdottir,K., Lord,C.J. and Ashworth,A. TITLE The proteasome is involved in determining differential utilization of double-strand break repair pathways JOURNAL Oncogene 26 (54), 7601-7606 (2007) PUBMED 17563742 REFERENCE 4 (bases 1 to 1242) AUTHORS Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I. TITLE Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis JOURNAL Invest. Ophthalmol. Vis. Sci. 44 (6), 2588-2596 (2003) PUBMED 12766061 REFERENCE 5 (bases 1 to 1242) AUTHORS Ren,S., Smith,M.J., Louro,I.D., McKie-Bell,P., Bani,M.R., Wagner,M., Zochodne,B., Redden,D.T., Grizzle,W.E., Wang,Nd., Smith,D.I., Herbst,R.A., Bardenheuer,W., Opalka,B., Schutte,J., Trent,J.M., Ben-David,Y. and Ruppert,J.M. TITLE The p44S10 locus, encoding a subunit of the proteasome regulatory particle, is amplified during progression of cutaneous malignant melanoma JOURNAL Oncogene 19 (11), 1419-1427 (2000) PUBMED 10723133 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA633802.1, AU105740.1, AL529900.3, BC000904.2, CD110455.1 and BM681873.1. Summary: This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]. Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1. ##Evidence-Data-START## Transcript exon combination :: AL529900.3 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-5 DA633802.1 1-5 6-14 AU105740.1 2-10 15-477 AL529900.3 1-463 478-1170 BC000904.2 580-1272 1171-1223 CD110455.1 214-266 1224-1242 BM681873.1 1-19 c FEATURES Location/Qualifiers source 1..1242 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3p14.1" gene 1..1242 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /note="proteasome (prosome, macropain) 26S subunit, non-ATPase, 6" /db_xref="GeneID:9861" /db_xref="HGNC:9564" exon 1..81 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" misc_feature 12..14 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /note="upstream in-frame stop codon" variation 47 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /replace="a" /replace="c" /db_xref="dbSNP:35836" CDS 54..1106 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /note="isoform 4 is encoded by transcript variant 4; 26S proteasome non-ATPase regulatory subunit 6; proteasome regulatory particle subunit p44S10; breast cancer-associated protein SGA-113M; phosphonoformate immuno-associated protein 4" /codon_start=1 /product="26S proteasome non-ATPase regulatory subunit 6 isoform 4" /protein_id="NP_001258710.1" /db_xref="GI:422398845" /db_xref="GeneID:9861" /db_xref="HGNC:9564" /translation="
MPLENLEEEDMAPYYEALCKSLDWQIDVDLLNKMKKANEDELKRLDEELEDAEKNLGESEIRDAMMAKAEYLCRIGDKEGALTAFRKTYDKTVALGHRLDIVFYLLRIGLFYMDNDLITRNTEKAKSLIEEGGDWDRRNRLKVYQGLYCVAIRDFKQAAELFLDTVSTFTSYELMDYKTFVTYTVYVSMIALERPDLREKVIKGAEILEVLHSLPAVRQYLFSLYECRYSVFFQSLAVVEQEMKKDWLFAPHYRYYVREMRIHAYSQLLESYRSLTLGYMAEAFGVGVEFIDQELSRFIAAGRLHCKIDKVNEIVETNRPDSKNWQYQETIKKGDLLLNRVQKLSRVINM
" misc_feature 132..653 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /note="26S proteasome subunit RPN7; Region: RPN7; pfam10602" /db_xref="CDD:204527" misc_feature 702..1004 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /note="PCI domain; Region: PCI; pfam01399" /db_xref="CDD:201772" exon 82..287 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" exon 288..433 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" exon 434..653 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" exon 654..762 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" exon 763..931 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" exon 932..1009 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" STS 1008..1185 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /standard_name="SHGC-77025" /db_xref="UniSTS:11789" exon 1010..1225 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /inference="alignment:Splign:1.39.8" variation 1187..1188 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /replace="a" /replace="g" /db_xref="dbSNP:3088293" variation 1188 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" /replace="a" /replace="g" /db_xref="dbSNP:1046025" polyA_signal 1197..1202 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" polyA_site 1225 /gene="PSMD6" /gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M" ORIGIN
gcagccggtcgtaaccaagttgtgtcctgtcagccgctgtccccttcgccgcgatgccgctggagaacctggaggaggaggacatggctccttactatgaagccttgtgcaaatccctcgactggcagatagacgtggacctactcaataaaatgaagaaggcaaatgaagatgagttgaagcgtttggatgaggagctggaagatgcagagaagaatctaggagagagcgaaattcgcgatgcaatgatggcaaaggccgagtacctctgccggataggtgacaaagagggagctctgacagcctttcgcaagacatatgacaaaactgtggccctgggtcaccgattggatattgtattctatctccttaggattggcttattttatatggataatgatctcatcacacgaaacacagaaaaggccaaaagcttaatagaagaaggaggagactgggacaggagaaaccgcctaaaagtgtatcagggtctttattgtgtggctattcgtgatttcaaacaggcagctgaactcttccttgacactgtttcaacatttacatcctatgaactcatggattataaaacatttgtgacttatactgtctatgtcagtatgattgccttagaaagaccagatctcagggaaaaggtcattaaaggagcagagattcttgaagtgttgcacagtcttccagcagttcggcagtatctgttttcactctatgaatgccgttactctgttttcttccaatcattagcggttgtggaacaggaaatgaaaaaggactggctttttgcccctcattatcgatactatgtaagagaaatgagaattcatgcatacagtcagctgctggaatcatataggtcattaacccttggctatatggcagaagcgtttggtgttggtgtggaattcattgatcaggaactgtccaggtttattgctgccgggagactacactgcaaaatagataaagtgaatgaaatagtagaaaccaacagacctgatagcaagaactggcagtaccaagaaactatcaagaaaggagatctgctactaaacagagttcaaaaactttccagagtaattaatatgtaaagccatgtaactaacaaaggatttgctttagagataattatttggaatttttatagcttacttcacaatgtgcccaggtcagctgtataaaataaatactgcattgttgtttctttccaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9861 -> Molecular function: GO:0016887 [ATPase activity] evidence: NAS GeneID:9861 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:9861 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:9861 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:9861 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:9861 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:9861 -> Biological process: GO:0006200 [ATP catabolic process] evidence: NAS GeneID:9861 -> Biological process: GO:0006508 [proteolysis] evidence: NAS GeneID:9861 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:9861 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:9861 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:9861 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:9861 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:9861 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:9861 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:9861 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:9861 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:9861 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:9861 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:9861 -> Cellular component: GO:0000502 [proteasome complex] evidence: NAS GeneID:9861 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:9861 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:9861 -> Cellular component: GO:0022624 [proteasome accessory complex] evidence: ISS
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