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2024-04-20 13:16:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014814 1493 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens proteasome (prosome, macropain) 26S subunit,
non-ATPase, 6 (PSMD6), transcript variant 2, mRNA.
ACCESSION NM_014814
VERSION NM_014814.2 GI:422398835
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 1493)
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 1493)
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 1493)
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 1493)
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 1493)
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 HY010377.1, BC000904.2,
BC012369.1, CD678025.1 and BM681873.1.
On Nov 21, 2012 this sequence version replaced gi:7661913.
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 (2) lacks an exon in the coding
region, compared to variant 1. The encoded isoform (2) is shorter
than isoform 1.
##Evidence-Data-START##
Transcript exon combination :: BC000904.2, AF215935.1 [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
1-149 HY010377.1 2-150
150-1421 BC000904.2 1-1272
1422-1470 BC012369.1 1270-1318
1471-1474 CD678025.1 536-539
1475-1493 BM681873.1 1-19 c
FEATURES Location/Qualifiers
source 1..1493
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p14.1"
gene 1..1493
/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"
/db_xref="HPRD:18370"
exon 1..332
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
misc_feature 146..148
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/note="upstream in-frame stop codon"
variation 181
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/replace="a"
/replace="c"
/db_xref="dbSNP:35836"
CDS 188..1357
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/note="isoform 2 is encoded by transcript variant 2; 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 2"
/protein_id="NP_055629.1"
/db_xref="GI:7661914"
/db_xref="CCDS:CCDS2901.1"
/db_xref="GeneID:9861"
/db_xref="HGNC:9564"
/db_xref="HPRD:18370"
/translation="
MPLENLEEEGLPKNPDLRIAQLRFLLSLPEHRGDAAVRDELMAAVRDNNMAPYYEALCKSLDWQIDVDLLNKMKKANEDELKRLDEELEDAEKNLGESEIRDAMMAKAEYLCRIGDKEGALTAFRKTYDKTVALGHRLDIVFYLLRIGLFYMDNDLITRNTEKAKSLIEEGGDWDRRNRLKVYQGLYCVAIRDFKQAAELFLDTVSTFTSYELMDYKTFVTYTVYVSMIALERPDLREKVIKGAEILEVLHSLPAVRQYLFSLYECRYSVFFQSLAVVEQEMKKDWLFAPHYRYYVREMRIHAYSQLLESYRSLTLGYMAEAFGVGVEFIDQELSRFIAAGRLHCKIDKVNEIVETNRPDSKNWQYQETIKKGDLLLNRVQKLSRVINM
"
misc_feature 230..1333
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/note="26S proteasome regulatory complex component,
contains PCI domain [Posttranslational modification,
protein turnover, chaperones]; Region: RPN7; COG5187"
/db_xref="CDD:34786"
misc_feature 953..1255
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/note="PCI domain; Region: PCI; pfam01399"
/db_xref="CDD:201772"
exon 333..538
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
exon 539..684
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
exon 685..904
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
exon 905..1013
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
exon 1014..1182
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
exon 1183..1260
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
STS 1259..1436
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/standard_name="SHGC-77025"
/db_xref="UniSTS:11789"
exon 1261..1476
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/inference="alignment:Splign:1.39.8"
variation 1438..1439
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/replace="a"
/replace="g"
/db_xref="dbSNP:3088293"
variation 1439
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
/replace="a"
/replace="g"
/db_xref="dbSNP:1046025"
polyA_signal 1448..1453
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
polyA_site 1476
/gene="PSMD6"
/gene_synonym="p42A; p44S10; Rpn7; S10; SGA-113M"
ORIGIN
aggggcgcaggcgcccaggccgggtgaggcgttcccggaggtgtccagcagaggacgctgccggcggagacgggaccggaagccgggccgcaggcggccgggcgtattcgccgactcctcccgcttccgctgccgcagccggtcgtaaccaagttgtgtcctgtcagccgctgtccccttcgccgcgatgccgctggagaacctggaggaggagggtctgcccaagaaccccgacttgcgtatcgcgcagctgcgcttcctgctcagcctgcccgagcaccgcggagacgctgccgtgcgcgacgagctgatggcggccgtccgcgataacaacatggctccttactatgaagccttgtgcaaatccctcgactggcagatagacgtggacctactcaataaaatgaagaaggcaaatgaagatgagttgaagcgtttggatgaggagctggaagatgcagagaagaatctaggagagagcgaaattcgcgatgcaatgatggcaaaggccgagtacctctgccggataggtgacaaagagggagctctgacagcctttcgcaagacatatgacaaaactgtggccctgggtcaccgattggatattgtattctatctccttaggattggcttattttatatggataatgatctcatcacacgaaacacagaaaaggccaaaagcttaatagaagaaggaggagactgggacaggagaaaccgcctaaaagtgtatcagggtctttattgtgtggctattcgtgatttcaaacaggcagctgaactcttccttgacactgtttcaacatttacatcctatgaactcatggattataaaacatttgtgacttatactgtctatgtcagtatgattgccttagaaagaccagatctcagggaaaaggtcattaaaggagcagagattcttgaagtgttgcacagtcttccagcagttcggcagtatctgttttcactctatgaatgccgttactctgttttcttccaatcattagcggttgtggaacaggaaatgaaaaaggactggctttttgcccctcattatcgatactatgtaagagaaatgagaattcatgcatacagtcagctgctggaatcatataggtcattaacccttggctatatggcagaagcgtttggtgttggtgtggaattcattgatcaggaactgtccaggtttattgctgccgggagactacactgcaaaatagataaagtgaatgaaatagtagaaaccaacagacctgatagcaagaactggcagtaccaagaaactatcaagaaaggagatctgctactaaacagagttcaaaaactttccagagtaattaatatgtaaagccatgtaactaacaaaggatttgctttagagataattatttggaatttttatagcttacttcacaatgtgcccaggtcagctgtataaaataaatactgcattgttgtttctttccaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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