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2024-04-19 17:30:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001172111 1693 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens SUMO/sentrin specific peptidase family member 8
(SENP8), transcript variant 5, mRNA.
ACCESSION NM_001172111
VERSION NM_001172111.1 GI:289063482
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 1693)
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 DB033241.1, CN367895.1,
AY008293.1 and AC020779.10.
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 (5) 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 :: CN367895.1 [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
1-35 DB033241.1 3-37
36-738 CN367895.1 3-705
739-1348 AY008293.1 579-1188
1349-1693 AC020779.10 77517-77861
FEATURES Location/Qualifiers
source 1..1693
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q23"
gene 1..1693
/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..175
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/inference="alignment:Splign:1.39.8"
variation 23
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:28526815"
variation 28
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:192977724"
variation 56
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11635347"
variation 80..81
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace=""
/replace="g"
/db_xref="dbSNP:150424577"
misc_feature 161..163
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/note="upstream in-frame stop codon"
exon 176..299
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/inference="alignment:Splign:1.39.8"
variation 187
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:188522373"
variation 237
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370012169"
variation 285
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:28397923"
exon 300..1693
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/inference="alignment:Splign:1.39.8"
variation 303
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:368944469"
variation 332
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:376823266"
CDS 347..985
/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_001165582.1"
/db_xref="GI:289063483"
/db_xref="CCDS:CCDS10240.1"
/db_xref="GeneID:123228"
/db_xref="HGNC:22992"
/db_xref="MIM:608659"
/translation="
MDPVVLSYMDSLLRQSDVSLLDPPSWLNDHIIGFAFEYFANSQFHDCSDHVSFISPEVTQFIKCTSNPAEIAMFLEPLDLPNKRVVFLAINDNSNQAAGGTHWSLLVYLQDKNSFFHYDSHSRSNSVHAKQVAEKLEAFLGRKGDKLAFVEEKAPAQQNSYDCGMYVICNTEALCQNFFRQQTESLLQLLTPAYITKKRGEWKDLITTLAKK
"
misc_feature 350..868
/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 377..868
/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 355
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:139225751"
variation 356
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375627078"
variation 387
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199892079"
variation 389
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:149872502"
variation 393
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141489909"
variation 413
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369280193"
variation 450
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144900951"
variation 456
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112289799"
variation 466
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:140874758"
variation 497
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146834757"
variation 501
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:140658121"
variation 538
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143788612"
variation 640
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372938472"
variation 649
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200032071"
variation 650
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146739194"
STS 668..1520
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/standard_name="SENP8_8135"
/db_xref="UniSTS:467876"
variation 672
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375903270"
variation 687
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148160315"
variation 700
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:192009414"
variation 707
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:78891913"
variation 730
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377505560"
variation 748
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371015308"
variation 814
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150184903"
variation 896
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199559692"
variation 919
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374909816"
variation 925
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367813055"
variation 963
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138734676"
variation 965
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:930871"
variation 1018
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374521353"
variation 1219
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:377159576"
variation 1274
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:115613530"
variation 1313
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184878594"
variation 1399..1400
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace=""
/replace="t"
/db_xref="dbSNP:201775069"
variation 1451
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370941720"
variation 1454
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140320954"
variation 1484
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150325250"
variation 1523
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137963562"
variation 1525
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201145750"
variation 1526
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="g"
/db_xref="dbSNP:13858"
STS 1541..1666
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/standard_name="SGC33966"
/db_xref="UniSTS:19302"
STS 1543..1665
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/standard_name="STS-R02756"
/db_xref="UniSTS:70562"
variation 1564
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="c"
/replace="t"
/db_xref="dbSNP:55854204"
variation 1579
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="a"
/replace="c"
/db_xref="dbSNP:189296952"
variation 1614
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
/replace="g"
/replace="t"
/db_xref="dbSNP:180865082"
polyA_signal 1665..1670
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
polyA_site 1686
/gene="SENP8"
/gene_synonym="DEN1; NEDP1; PRSC2"
ORIGIN
ttttttcttcttcaccttacggcagagcagggaactcagctttagattctccctgtactggaaagggatgtcgcaaggttggggacgaaacctctgagtttgcgaccgtagctgtcgctttccggccaacacagaggtgcctgaaggctggttggggtggtgaggcccgaggcagtggaaatggatcgtcataaaggtcttcatcctcatcatcatgttgagtaggctgaagaggaggaggaaaaggagcaattggtcttgctgtctcaggggtggcagaggcaaaagaaaatccatgtctcttgttcagcttctggaatttctgagcagccctcgtcagtacaagatggaccccgtagtcttgagttacatggacagtctactgcggcaatcagatgtctcactattggatccgccaagctggctcaatgaccatattattgggtttgcgtttgagtactttgccaacagtcagtttcatgactgctctgatcacgtcagtttcatcagccctgaagtcacccagttcatcaagtgcactagcaacccagcagagattgccatgttccttgaaccactggacctccccaacaagagagttgtatttttagccatcaatgataactccaaccaggcagctggaggaacccactggagtttattggtctacctccaagataaaaatagcttttttcattatgattcccatagcaggagcaactcagttcacgcaaagcaggtagcagagaaactggaggctttcttaggcagaaaaggagacaaactggcctttgtggaagagaaagcccctgcccaacaaaacagctatgactgtgggatgtacgtgatatgtaacactgaggccttgtgtcagaacttctttaggcaacagacagaatcactgctgcagctactcacccctgcatacatcacaaagaagaggggagaatggaaagatctcattaccacacttgctaaaaagtagctattgaagtatatttgcgacttttgaaggctcctctttctgcccttccccatttgttggatggctgcaatctcagtgcctgagggaagatgcctagtagaggaaagcttaatactctttttcctgaaagaatatcatcctctgcattatccccatggaacgtttcactttaaccctgactggggagcaatatgttctgtgaaaatatcttgaaattgtacaccaaaaccttacaaccaacttatttgaacatttattacacacagggtttacgtaagacttttcttattggtatataattaatttcctttggtctcccttatccacattggcttattctggaggaaaagcagtgatctgtaaaacaaatcaagaatatattaaatctagaggaatgcagagaagaaaactataaaacagaaccaaaaacttgttgcacagcctacataattaagagatcaactggctggaagcagatcaaggcctaacttcattcaagacctaaatattatgagactcagttattcggttttatgtgacatctcttccattcaccatgcacaggcttttccagctatctatataatgtttgcaaatatttgataaagatgatgttaccctatcttcctccatctgattcctggaatgcttgaagaaaggggaaatcttgagtaacctcattaaaattaatgtctggtggacctctca
//
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_001165582 -> EC 3.4.22.68
by
@meso_cacase at
DBCLS
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