2024-04-19 22:26:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005805 1734 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 (PSMD14), mRNA. ACCESSION NM_005805 VERSION NM_005805.5 GI:375268695 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 1734) AUTHORS Butler,L.R., Densham,R.M., Jia,J., Garvin,A.J., Stone,H.R., Shah,V., Weekes,D., Festy,F., Beesley,J. and Morris,J.R. TITLE The proteasomal de-ubiquitinating enzyme POH1 promotes the double-strand DNA break response JOURNAL EMBO J. 31 (19), 3918-3934 (2012) PUBMED 22909820 REMARK GeneRIF: The data demonstrated that proteasomal POH1 is a key de-ubiquitinating enzyme that regulates ubiquitin conjugates generated in response to damage and that several aspects of the DNA double-strand break response are regulated by the proteasome. REFERENCE 2 (bases 1 to 1734) AUTHORS Byrne,A., McLaren,R.P., Mason,P., Chai,L., Dufault,M.R., Huang,Y., Liang,B., Gans,J.D., Zhang,M., Carter,K., Gladysheva,T.B., Teicher,B.A., Biemann,H.P., Booker,M., Goldberg,M.A., Klinger,K.W., Lillie,J., Madden,S.L. and Jiang,Y. TITLE Knockdown of human deubiquitinase PSMD14 induces cell cycle arrest and senescence JOURNAL Exp. Cell Res. 316 (2), 258-271 (2010) PUBMED 19732767 REMARK GeneRIF: Down-regulation of PSMD14 results in decreased cell proliferation, cell cycle arrest and senescence. A comparative study with PSMB5, revealed that PSMB5 and PSMD14 have different effects on cell cycle, senescence and associated molecular events. REFERENCE 3 (bases 1 to 1734) AUTHORS Ma,Z., Gao,X., Zhao,W., Li,Y., Li,C. and Li,C. TITLE Relationship between expression of Pad1 homologue and multidrug resistance of idiopathic nephrotic syndrome JOURNAL Pediatr Int 51 (5), 732-735 (2009) PUBMED 19419512 REMARK GeneRIF: Disorder of POH1 expression is involved in the onset of idiopathic nephrotic syndrome (INS), and confers multidrug resistance in children with INS REFERENCE 4 (bases 1 to 1734) AUTHORS Cooper,E.M., Cutcliffe,C., Kristiansen,T.Z., Pandey,A., Pickart,C.M. and Cohen,R.E. TITLE K63-specific deubiquitination by two JAMM/MPN+ complexes: BRISC-associated Brcc36 and proteasomal Poh1 JOURNAL EMBO J. 28 (6), 621-631 (2009) PUBMED 19214193 REMARK GeneRIF: Specificity for K63-linked polyubiquitin is a common property of the JAMM/MPN+ family of deubiquitinating enzymes. REFERENCE 5 (bases 1 to 1734) AUTHORS Koulich,E., Li,X. and DeMartino,G.N. TITLE Relative structural and functional roles of multiple deubiquitylating proteins associated with mammalian 26S proteasome JOURNAL Mol. Biol. Cell 19 (3), 1072-1082 (2008) PUBMED 18162577 REFERENCE 6 (bases 1 to 1734) 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 7 (bases 1 to 1734) AUTHORS Ambroggio,X.I., Rees,D.C. and Deshaies,R.J. TITLE JAMM: a metalloprotease-like zinc site in the proteasome and signalosome JOURNAL PLoS Biol. 2 (1), E2 (2004) PUBMED 14737182 REFERENCE 8 (bases 1 to 1734) AUTHORS Margottin-Goguet,F., Hsu,J.Y., Loktev,A., Hsieh,H.M., Reimann,J.D. and Jackson,P.K. TITLE Prophase destruction of Emi1 by the SCF(betaTrCP/Slimb) ubiquitin ligase activates the anaphase promoting complex to allow progression beyond prometaphase JOURNAL Dev. Cell 4 (6), 813-826 (2003) PUBMED 12791267 REFERENCE 9 (bases 1 to 1734) AUTHORS Geley,S., Kramer,E., Gieffers,C., Gannon,J., Peters,J.M. and Hunt,T. TITLE Anaphase-promoting complex/cyclosome-dependent proteolysis of human cyclin A starts at the beginning of mitosis and is not subject to the spindle assembly checkpoint JOURNAL J. Cell Biol. 153 (1), 137-148 (2001) PUBMED 11285280 REFERENCE 10 (bases 1 to 1734) AUTHORS Spataro,V., Toda,T., Craig,R., Seeger,M., Dubiel,W., Harris,A.L. and Norbury,C. TITLE Resistance to diverse drugs and ultraviolet light conferred by overexpression of a novel human 26 S proteasome subunit JOURNAL J. Biol. Chem. 272 (48), 30470-30475 (1997) PUBMED 9374539 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA133201.1, BC066336.1, U86782.1 and BM978668.1. On Feb 11, 2012 this sequence version replaced gi:221307564. Summary: This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]. 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 :: AK055128.1, BC066336.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-154 DA133201.1 1-154 155-1204 BC066336.1 1-1050 1205-1400 U86782.1 937-1132 1401-1734 BM978668.1 1-334 c FEATURES Location/Qualifiers source 1..1734 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q24.2" gene 1..1734 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /note="proteasome (prosome, macropain) 26S subunit, non-ATPase, 14" /db_xref="GeneID:10213" /db_xref="HGNC:16889" /db_xref="HPRD:06208" /db_xref="MIM:607173" exon 1..330 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 37 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="g" /db_xref="dbSNP:112037128" variation 82 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:146896366" variation 98 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="g" /db_xref="dbSNP:187123581" variation 142 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="t" /db_xref="dbSNP:191894240" variation 223 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="t" /db_xref="dbSNP:9713" variation 318 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:183359976" variation 323 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:11546857" exon 331..463 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 375 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:144647588" variation 384 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:1136548" misc_feature 450..452 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /note="upstream in-frame stop codon" exon 464..515 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" CDS 468..1400 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /EC_number="3.1.2.15" /note="26S proteasome regulatory subunit rpn11; 26S proteasome-associated PAD1 homolog 1" /codon_start=1 /product="26S proteasome non-ATPase regulatory subunit 14" /protein_id="NP_005796.1" /db_xref="GI:5031981" /db_xref="CCDS:CCDS46437.1" /db_xref="GeneID:10213" /db_xref="HGNC:16889" /db_xref="HPRD:06208" /db_xref="MIM:607173" /translation="
MDRLLRLGGGMPGLGQGPPTDAPAVDTAEQVYISSLALLKMLKHGRAGVPMEVMGLMLGEFVDDYTVRVIDVFAMPQSGTGVSVEAVDPVFQAKMLDMLKQTGRPEMVVGWYHSHPGFGCWLSGVDINTQQSFEALSERAVAVVVDPIQSVKGKVVIDAFRLINANMMVLGHEPRQTTSNLGHLNKPSIQALIHGLNRHYYSITINYRKNELEQKMLLNLHKKSWMEGLTLQDYSEHCKHNESVVKEMLELAKNYNKAVEEEDKMTPEQLAIKNVGKQDPKRHLEEHVDVLMTSNIVQCLAAMLDTVVFK
" misc_feature 528..1325 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /note="Mov34/MPN/PAD-1 family: proteasomal regulatory protein Rpn11 and signalosome complex subunit CSN5; Region: MPN_RPN11_CSN5; cd08069" /db_xref="CDD:163700" misc_feature 561..563 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature order(621..623,804..806,810..812,834..836,843..845) /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /note="MPN+ (JAMM) motif; other site" /db_xref="CDD:163700" misc_feature 804..845 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O00487.1); Region: JAMM motif" misc_feature order(804..806,810..812,843..845) /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /note="Zinc-binding site [ion binding]; other site" /db_xref="CDD:163700" misc_feature 915..917 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O00487.1); phosphorylation site" misc_feature 1137..1139 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O00487.1); phosphorylation site" variation 496 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="g" /replace="t" /db_xref="dbSNP:202245412" exon 516..587 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" exon 588..707 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 593 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:11546859" exon 708..778 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 740 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:201192422" exon 779..929 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 833 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="g" /replace="t" /db_xref="dbSNP:147288033" variation 878 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:373164724" variation 904 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:80038263" exon 930..1037 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 1004 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:371311842" exon 1038..1112 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 1074 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:374315217" exon 1113..1238 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 1133 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:368096782" variation 1163 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:199633612" variation 1170 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:189753169" variation 1186 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="t" /db_xref="dbSNP:146149534" exon 1239..1301 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" variation 1289 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:370082078" exon 1302..1717 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /inference="alignment:Splign:1.39.8" STS 1315..1493 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /standard_name="RH91306" /db_xref="UniSTS:86949" variation 1355 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:201522506" variation 1406 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="t" /db_xref="dbSNP:377532352" variation 1486..1487 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="" /replace="gt" /db_xref="dbSNP:71818353" variation 1560 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="g" /replace="t" /db_xref="dbSNP:78317453" variation 1597 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="a" /replace="g" /db_xref="dbSNP:1064576" variation 1663 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" /replace="c" /replace="g" /db_xref="dbSNP:374221229" polyA_signal 1696..1701 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" polyA_site 1717 /gene="PSMD14" /gene_synonym="PAD1; POH1; RPN11" ORIGIN
aagtgccgcctcacagtcctgccagagacaggagacgccgggccgcccgcgccgtctgtcccaagagctcctcctggacatccgcttgactctccgtcgtctccaattggccgtcggggaacggaagccgaagcaaactagtgaacccggaagtgcttcgcggcggaggcccgggcaactcttttgaatggaatcgggctgattcatcgccggtttgcagacagagccgcgtcgggtgtgcgccgctgctgctgttgcctctgtcttcgcgtcaccacagaggcaagacaagggtccatatcgcggcatccggctcccgcccgtcttcaggagagaaagaaaaaataaaatatacttggggaagttgtacctgccagaattagcaagagctttctttaagaagacatttgtcaaactcaacaaattgaaggttaacaccttaagagttgtagttactgaccagaaatatggacagacttcttagacttggaggaggtatgcctggactgggccaggggccacctacagatgctcctgcagtggacacagcagaacaagtctatatctcttccctggcactgttaaaaatgttaaaacatggccgtgctggagttccaatggaagttatgggtttgatgcttggagaatttgttgatgattataccgtcagagtgattgatgtgtttgctatgccacagtcaggaacaggtgtcagtgtggaggcagttgatccagtgttccaagctaaaatgttggatatgttgaagcagacaggaaggccggagatggttgttggttggtatcacagtcaccctggctttggttgttggctttctggtgtggatatcaacactcagcagagctttgaagccttgtcggagagagctgtggcagtggttgtggatcccattcagagtgtaaaaggaaaggttgttattgatgccttcagattgatcaatgctaatatgatggtcttaggacatgaaccaagacaaacaacttcgaatctgggtcacttaaacaagccatctatccaggcattaattcatggactaaacagacattattactccattactattaactatcggaaaaatgaactggaacagaagatgttgctaaatttgcataagaagagttggatggaaggtttgacacttcaggactacagtgaacattgtaaacacaatgaatcagtggtaaaagagatgttggaattagccaagaattacaataaggctgtagaagaagaagataagatgacacctgaacagctggcaataaagaatgttggcaagcaggaccccaaacgtcatttggaggaacatgtggatgtacttatgacctcaaatattgtccagtgtttagcagctatgttggatactgtcgtatttaaataaagcaacgaaaaacgctattaatgatgccttcagtgtatattcctctgttgttcctaatgctcaaaatcaagggacctctgaaggtgtacttggctaaatgtaagacatctggcatcatttgcagcactgtaacaccttcagtctcagttgtgcaattacttctgtttctttagtcagggtctttgcagattctaaagttatacatgaatacatcaaagtggacaaattttgttaagatcccatttaatatttgaaaaaatcagtagcacaaatatattttgattgtcacttacaaaataaaatacatttacagtctaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10213 -> Molecular function: GO:0004221 [ubiquitin thiolesterase activity] evidence: IMP GeneID:10213 -> Molecular function: GO:0004221 [ubiquitin thiolesterase activity] evidence: TAS GeneID:10213 -> Molecular function: GO:0008237 [metallopeptidase activity] evidence: TAS GeneID:10213 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:10213 -> Molecular function: GO:0061133 [endopeptidase activator activity] evidence: IMP GeneID:10213 -> Molecular function: GO:0070628 [proteasome binding] evidence: IDA GeneID:10213 -> Biological process: GO:0000082 [G1/S transition of mitotic cell cycle] evidence: TAS GeneID:10213 -> Biological process: GO:0000209 [protein polyubiquitination] evidence: TAS GeneID:10213 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:10213 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: IMP GeneID:10213 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS GeneID:10213 -> Biological process: GO:0002479 [antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent] evidence: TAS GeneID:10213 -> Biological process: GO:0006303 [double-strand break repair via nonhomologous end joining] evidence: IMP GeneID:10213 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0006521 [regulation of cellular amino acid metabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:10213 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: TAS GeneID:10213 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:10213 -> Biological process: GO:0010950 [positive regulation of endopeptidase activity] evidence: IMP GeneID:10213 -> Biological process: GO:0016032 [viral process] evidence: TAS GeneID:10213 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0031145 [anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0034641 [cellular nitrogen compound metabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0042590 [antigen processing and presentation of exogenous peptide antigen via MHC class I] evidence: TAS GeneID:10213 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:10213 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS GeneID:10213 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:10213 -> Biological process: GO:0051436 [negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:10213 -> Biological process: GO:0051437 [positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:10213 -> Biological process: GO:0051439 [regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle] evidence: TAS GeneID:10213 -> Biological process: GO:0061136 [regulation of proteasomal protein catabolic process] evidence: IMP GeneID:10213 -> Biological process: GO:0070536 [protein K63-linked deubiquitination] evidence: IMP GeneID:10213 -> Biological process: GO:0070536 [protein K63-linked deubiquitination] evidence: TAS GeneID:10213 -> Cellular component: GO:0000502 [proteasome complex] evidence: TAS GeneID:10213 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS GeneID:10213 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:10213 -> Cellular component: GO:0008541 [proteasome regulatory particle, lid subcomplex] evidence: IMP GeneID:10213 -> Cellular component: GO:0022624 [proteasome accessory complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_005796 -> EC 3.1.2.15
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