2025-05-09 18:27:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001172109 1834 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 3, mRNA. ACCESSION NM_001172109 VERSION NM_001172109.1 GI:289063478 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 1834) AUTHORS Luykx,J.J., Bakker,S.C., Lentjes,E., Neeleman,M., Strengman,E., Mentink,L., Deyoung,J., de Jong,S., Sul,J.H., Eskin,E., van Eijk,K., van Setten,J., Buizer-Voskamp,J.E., Cantor,R.M., Lu,A., van Amerongen,M., van Dongen,E.P., Keijzers,P., Kappen,T., Borgdorff,P., Bruins,P., Derks,E.M., Kahn,R.S. and Ophoff,R.A. TITLE Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid JOURNAL Mol. Psychiatry (2013) In press PUBMED 23319000 REMARK Publication Status: Available-Online prior to print REFERENCE 2 (bases 1 to 1834) AUTHORS Ehrentraut,S.F., Kominsky,D.J., Glover,L.E., Campbell,E.L., Kelly,C.J., Bowers,B.E., Bayless,A.J. and Colgan,S.P. TITLE Central role for endothelial human deneddylase-1/SENP8 in fine-tuning the vascular inflammatory response JOURNAL J. Immunol. 190 (1), 392-400 (2013) PUBMED 23209320 REMARK GeneRIF: A role for SENP8 as a central regulator of the inflammatory process is identified using knockdown and overexpression approaches. REFERENCE 3 (bases 1 to 1834) AUTHORS Christmann,M., Schmaler,T., Gordon,C., Huang,X., Bayram,O., Schinke,J., Stumpf,S., Dubiel,W. and Braus,G.H. TITLE Control of multicellular development by the physically interacting deneddylases DEN1/DenA and COP9 signalosome JOURNAL PLoS Genet. 9 (2), E1003275 (2013) PUBMED 23408908 REMARK GeneRIF: We analyzed whether CSN1 alone can increase DEN1 degradation in HeLa cells.these data suggest that the COP9 signalosome supports proteasome-dependent protein degradation of DEN1/DenA in fungi and in human cells. REFERENCE 4 (bases 1 to 1834) AUTHORS Shin,Y.C., Tang,S.J., Chen,J.H., Liao,P.H. and Chang,S.C. TITLE The molecular determinants of NEDD8 specific recognition by human SENP8 JOURNAL PLoS ONE 6 (11), E27742 (2011) PUBMED 22110750 REMARK GeneRIF: the specificity of NEDD8-specific peptidase SENP8 REFERENCE 5 (bases 1 to 1834) AUTHORS Watson,I.R., Li,B.K., Roche,O., Blanch,A., Ohh,M. and Irwin,M.S. TITLE Chemotherapy induces NEDP1-mediated destabilization of MDM2 JOURNAL Oncogene 29 (2), 297-304 (2010) PUBMED 19784069 REMARK GeneRIF: Data show that the stability of MDM2 is regulated by NEDD8 pathway and identify NEDP1 that deneddylates MDM2, resulting in MDM2 destabilization concomitant with p53 activation. REFERENCE 6 (bases 1 to 1834) AUTHORS Reverter,D., Wu,K., Erdene,T.G., Pan,Z.Q., Wilkinson,K.D. and Lima,C.D. TITLE Structure of a complex between Nedd8 and the Ulp/Senp protease family member Den1 JOURNAL J. Mol. Biol. 345 (1), 141-151 (2005) PUBMED 15567417 REMARK GeneRIF: X-ray structures of the human Nedd8-specific protease, Den1, in a complex with the inhibitor Nedd8 aldehyde, thus revealing a model for the tetrahedral transition state intermediate generated during proteolysis REFERENCE 7 (bases 1 to 1834) AUTHORS Xirodimas,D.P., Saville,M.K., Bourdon,J.C., Hay,R.T. and Lane,D.P. TITLE Mdm2-mediated NEDD8 conjugation of p53 inhibits its transcriptional activity JOURNAL Cell 118 (1), 83-97 (2004) PUBMED 15242646 REFERENCE 8 (bases 1 to 1834) AUTHORS Wu,K., Yamoah,K., Dolios,G., Gan-Erdene,T., Tan,P., Chen,A., Lee,C.G., Wei,N., Wilkinson,K.D., Wang,R. and Pan,Z.Q. TITLE DEN1 is a dual function protease capable of processing the C terminus of Nedd8 and deconjugating hyper-neddylated CUL1 JOURNAL J. Biol. Chem. 278 (31), 28882-28891 (2003) PUBMED 12759363 REMARK GeneRIF: results suggest a unique role for NEDD8-specific protease 1(DEN1) in regulating the modification of cullin 1 by Nedd8 protein REFERENCE 9 (bases 1 to 1834) AUTHORS Gan-Erdene,T., Nagamalleswari,K., Yin,L., Wu,K., Pan,Z.Q. and Wilkinson,K.D. TITLE Identification and characterization of DEN1, a deneddylase of the ULP family JOURNAL J. Biol. Chem. 278 (31), 28892-28900 (2003) PUBMED 12759362 REFERENCE 10 (bases 1 to 1834) AUTHORS Mendoza,H.M., Shen,L.N., Botting,C., Lewis,A., Chen,J., Ink,B. and Hay,R.T. TITLE NEDP1, a highly conserved cysteine protease that deNEDDylates Cullins JOURNAL J. Biol. Chem. 278 (28), 25637-25643 (2003) PUBMED 12730221 REMARK GeneRIF: NEDP1 is likely to play an important role in ubiquitin-mediated proteolysis by controlling the activity of SCF complexes COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB048641.1, AC020779.10 and AY008293.1. Summary: This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]. Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same protein. An in-frame AUG is located 44 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context. 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 :: DB048641.1, DB025988.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-29 DB048641.1 1-29 30-30 AC020779.10 53771-53771 31-599 DB048641.1 31-599 600-1489 AY008293.1 299-1188 1490-1834 AC020779.10 77517-77861 FEATURES Location/Qualifiers source 1..1834 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q23" gene 1..1834 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /note="SUMO/sentrin specific peptidase family member 8" /db_xref="GeneID:123228" /db_xref="HGNC:22992" /db_xref="MIM:608659" exon 1..316 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /inference="alignment:Splign:1.39.8" variation 83 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:145160822" variation 84 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:183628371" variation 92 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:146859565" variation 140 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:188815002" variation 246 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:192368663" variation 249 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:79744565" variation 268 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:148970709" misc_feature 278..280 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /note="upstream in-frame stop codon" exon 317..440 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /inference="alignment:Splign:1.39.8" variation 328 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:188522373" variation 378 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:370012169" variation 426 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:28397923" exon 441..1834 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /inference="alignment:Splign:1.39.8" variation 444 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="g" /replace="t" /db_xref="dbSNP:368944469" variation 473 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:376823266" CDS 488..1126 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /EC_number="3.4.22.68" /note="NEDD8-specific protease 1; deneddylase 1; SUMO sentrin specific protease family member 8; NEDD8 specific-protease cysteine 2; deneddylase-1; protease, cysteine 2" /codon_start=1 /product="sentrin-specific protease 8" /protein_id="NP_001165580.1" /db_xref="GI:289063479" /db_xref="CCDS:CCDS10240.1" /db_xref="GeneID:123228" /db_xref="HGNC:22992" /db_xref="MIM:608659" /translation="
MDPVVLSYMDSLLRQSDVSLLDPPSWLNDHIIGFAFEYFANSQFHDCSDHVSFISPEVTQFIKCTSNPAEIAMFLEPLDLPNKRVVFLAINDNSNQAAGGTHWSLLVYLQDKNSFFHYDSHSRSNSVHAKQVAEKLEAFLGRKGDKLAFVEEKAPAQQNSYDCGMYVICNTEALCQNFFRQQTESLLQLLTPAYITKKRGEWKDLITTLAKK
" misc_feature 491..1009 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /note="Ulp1 protease family, C-terminal catalytic domain; Region: Peptidase_C48; pfam02902" /db_xref="CDD:202459" misc_feature 518..1009 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q96LD8.1); Region: Protease" variation 496 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:139225751" variation 497 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:375627078" variation 528 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:199892079" variation 530 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:149872502" variation 534 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:141489909" variation 554 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:369280193" variation 591 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:144900951" variation 597 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:112289799" variation 607 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:140874758" variation 638 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:146834757" variation 642 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:140658121" variation 679 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:143788612" variation 781 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:372938472" variation 790 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:200032071" variation 791 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:146739194" STS 809..1661 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /standard_name="SENP8_8135" /db_xref="UniSTS:467876" variation 813 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="g" /replace="t" /db_xref="dbSNP:375903270" variation 828 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:148160315" variation 841 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:192009414" variation 848 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:78891913" variation 871 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:377505560" variation 889 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="g" /replace="t" /db_xref="dbSNP:371015308" variation 955 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:150184903" variation 1037 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:199559692" variation 1060 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:374909816" variation 1066 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:367813055" variation 1104 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:138734676" variation 1106 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:930871" variation 1159 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:374521353" variation 1360 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:377159576" variation 1415 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:115613530" variation 1454 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:184878594" variation 1540..1541 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="" /replace="t" /db_xref="dbSNP:201775069" variation 1592 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="g" /db_xref="dbSNP:370941720" variation 1595 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:140320954" variation 1625 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="g" /replace="t" /db_xref="dbSNP:150325250" variation 1664 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:137963562" variation 1666 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:201145750" variation 1667 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="g" /db_xref="dbSNP:13858" STS 1682..1807 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /standard_name="SGC33966" /db_xref="UniSTS:19302" STS 1684..1806 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /standard_name="STS-R02756" /db_xref="UniSTS:70562" variation 1705 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="c" /replace="t" /db_xref="dbSNP:55854204" variation 1720 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="a" /replace="c" /db_xref="dbSNP:189296952" variation 1755 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" /replace="g" /replace="t" /db_xref="dbSNP:180865082" polyA_signal 1806..1811 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" polyA_site 1827 /gene="SENP8" /gene_synonym="DEN1; NEDP1; PRSC2" ORIGIN
ataatggcacacacacaactggcctcatgcttccataacttcactctgcctcccacttttttcagcccaacccctccaaacatgggtctcggtcggtccccttaagccacaatggagggaatacattaggctaagcaaatattccctcaggatttcatggcaaagccctttcaaccaaagaaaggatcgcgactaaggagaaagataacaaggtttgcttgaggagaggtctgttgagagaggctacagtcggtggtgggagagaagccaaagtctgtgacggtgtctagagggactgacaccacatctaccgggatggaaatggatcgtcataaaggtcttcatcctcatcatcatgttgagtaggctgaagaggaggaggaaaaggagcaattggtcttgctgtctcaggggtggcagaggcaaaagaaaatccatgtctcttgttcagcttctggaatttctgagcagccctcgtcagtacaagatggaccccgtagtcttgagttacatggacagtctactgcggcaatcagatgtctcactattggatccgccaagctggctcaatgaccatattattgggtttgcgtttgagtactttgccaacagtcagtttcatgactgctctgatcacgtcagtttcatcagccctgaagtcacccagttcatcaagtgcactagcaacccagcagagattgccatgttccttgaaccactggacctccccaacaagagagttgtatttttagccatcaatgataactccaaccaggcagctggaggaacccactggagtttattggtctacctccaagataaaaatagcttttttcattatgattcccatagcaggagcaactcagttcacgcaaagcaggtagcagagaaactggaggctttcttaggcagaaaaggagacaaactggcctttgtggaagagaaagcccctgcccaacaaaacagctatgactgtgggatgtacgtgatatgtaacactgaggccttgtgtcagaacttctttaggcaacagacagaatcactgctgcagctactcacccctgcatacatcacaaagaagaggggagaatggaaagatctcattaccacacttgctaaaaagtagctattgaagtatatttgcgacttttgaaggctcctctttctgcccttccccatttgttggatggctgcaatctcagtgcctgagggaagatgcctagtagaggaaagcttaatactctttttcctgaaagaatatcatcctctgcattatccccatggaacgtttcactttaaccctgactggggagcaatatgttctgtgaaaatatcttgaaattgtacaccaaaaccttacaaccaacttatttgaacatttattacacacagggtttacgtaagacttttcttattggtatataattaatttcctttggtctcccttatccacattggcttattctggaggaaaagcagtgatctgtaaaacaaatcaagaatatattaaatctagaggaatgcagagaagaaaactataaaacagaaccaaaaacttgttgcacagcctacataattaagagatcaactggctggaagcagatcaaggcctaacttcattcaagacctaaatattatgagactcagttattcggttttatgtgacatctcttccattcaccatgcacaggcttttccagctatctatataatgtttgcaaatatttgataaagatgatgttaccctatcttcctccatctgattcctggaatgcttgaagaaaggggaaatcttgagtaacctcattaaaattaatgtctggtggacctctca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:123228 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: IEA GeneID:123228 -> Biological process: GO:0006508 [proteolysis] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001165580 -> EC 3.4.22.68
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