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2019-03-23 04:06:06, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001166340            1680 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens SUMO/sentrin specific peptidase family member 8
            (SENP8), transcript variant 1, mRNA.
ACCESSION   NM_001166340
VERSION     NM_001166340.1  GI:262118307
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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 1680)
  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 AK097557.1 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 (1) and variants 2, 3, 4, and 5
            encode the same protein.
            
            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 :: AK097557.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-629               AK097557.1         1-629
            630-1680            AC020779.10        76811-77861
FEATURES             Location/Qualifiers
     source          1..1680
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..1680
                     /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..286
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /inference="alignment:Splign:1.39.8"
     variation       41
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190588406"
     variation       67
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370769512"
     variation       136
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:117937624"
     variation       187
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28628792"
     misc_feature    259..261
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /note="upstream in-frame stop codon"
     exon            287..1680
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /inference="alignment:Splign:1.39.8"
     variation       290
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368944469"
     variation       319
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376823266"
     CDS             334..972
                     /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_001159812.1"
                     /db_xref="GI:262118308"
                     /db_xref="CCDS:CCDS10240.1"
                     /db_xref="GeneID:123228"
                     /db_xref="HGNC:22992"
                     /db_xref="MIM:608659"
                     /translation="
MDPVVLSYMDSLLRQSDVSLLDPPSWLNDHIIGFAFEYFANSQFHDCSDHVSFISPEVTQFIKCTSNPAEIAMFLEPLDLPNKRVVFLAINDNSNQAAGGTHWSLLVYLQDKNSFFHYDSHSRSNSVHAKQVAEKLEAFLGRKGDKLAFVEEKAPAQQNSYDCGMYVICNTEALCQNFFRQQTESLLQLLTPAYITKKRGEWKDLITTLAKK
"
     misc_feature    337..855
                     /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    364..855
                     /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       342
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139225751"
     variation       343
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375627078"
     variation       374
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199892079"
     variation       376
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149872502"
     variation       380
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141489909"
     variation       400
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369280193"
     variation       437
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144900951"
     variation       443
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112289799"
     variation       453
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140874758"
     variation       484
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146834757"
     variation       488
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140658121"
     variation       525
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143788612"
     variation       627
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372938472"
     variation       636
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200032071"
     variation       637
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146739194"
     STS             655..1507
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /standard_name="SENP8_8135"
                     /db_xref="UniSTS:467876"
     variation       659
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375903270"
     variation       674
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148160315"
     variation       687
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:192009414"
     variation       694
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78891913"
     variation       717
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377505560"
     variation       735
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371015308"
     variation       801
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150184903"
     variation       883
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199559692"
     variation       906
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374909816"
     variation       912
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367813055"
     variation       950
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138734676"
     variation       952
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:930871"
     variation       1005
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374521353"
     variation       1206
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377159576"
     variation       1261
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:115613530"
     variation       1300
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184878594"
     variation       1386..1387
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:201775069"
     variation       1438
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370941720"
     variation       1441
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140320954"
     variation       1471
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150325250"
     variation       1510
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137963562"
     variation       1512
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201145750"
     variation       1513
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:13858"
     STS             1528..1653
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /standard_name="SGC33966"
                     /db_xref="UniSTS:19302"
     STS             1530..1652
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /standard_name="STS-R02756"
                     /db_xref="UniSTS:70562"
     variation       1551
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55854204"
     variation       1566
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189296952"
     variation       1601
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:180865082"
     polyA_signal    1652..1657
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
     polyA_site      1673
                     /gene="SENP8"
                     /gene_synonym="DEN1; NEDP1; PRSC2"
ORIGIN      
acttactccaacagcagtcaagagaatgaacaggagggcatgacaagaggcagaagacagaaggcaagaagaccactcagcattacagaagcccaacaaacagatattttcagttaaaataagatagaggcaacaaaaagtaataaggaatgacctgaaatatcatgagggaaaatgtacaaggcagtgacagactggatgttggcagtgaagtacagagtgaagcggagggcaattcccaggttcctgaaggtttcatgaggaaagagtggtgccattaatcaagctcttgttcagcttctggaatttctgagcagccctcgtcagtacaagatggaccccgtagtcttgagttacatggacagtctactgcggcaatcagatgtctcactattggatccgccaagctggctcaatgaccatattattgggtttgcgtttgagtactttgccaacagtcagtttcatgactgctctgatcacgtcagtttcatcagccctgaagtcacccagttcatcaagtgcactagcaacccagcagagattgccatgttccttgaaccactggacctccccaacaagagagttgtatttttagccatcaatgataactccaaccaggcagctggaggaacccactggagtttattggtctacctccaagataaaaatagcttttttcattatgattcccatagcaggagcaactcagttcacgcaaagcaggtagcagagaaactggaggctttcttaggcagaaaaggagacaaactggcctttgtggaagagaaagcccctgcccaacaaaacagctatgactgtgggatgtacgtgatatgtaacactgaggccttgtgtcagaacttctttaggcaacagacagaatcactgctgcagctactcacccctgcatacatcacaaagaagaggggagaatggaaagatctcattaccacacttgctaaaaagtagctattgaagtatatttgcgacttttgaaggctcctctttctgcccttccccatttgttggatggctgcaatctcagtgcctgagggaagatgcctagtagaggaaagcttaatactctttttcctgaaagaatatcatcctctgcattatccccatggaacgtttcactttaaccctgactggggagcaatatgttctgtgaaaatatcttgaaattgtacaccaaaaccttacaaccaacttatttgaacatttattacacacagggtttacgtaagacttttcttattggtatataattaatttcctttggtctcccttatccacattggcttattctggaggaaaagcagtgatctgtaaaacaaatcaagaatatattaaatctagaggaatgcagagaagaaaactataaaacagaaccaaaaacttgttgcacagcctacataattaagagatcaactggctggaagcagatcaaggcctaacttcattcaagacctaaatattatgagactcagttattcggttttatgtgacatctcttccattcaccatgcacaggcttttccagctatctatataatgtttgcaaatatttgataaagatgatgttaccctatcttcctccatctgattcctggaatgcttgaagaaaggggaaatcttgagtaacctcattaaaattaatgtctggtggacctctca
//

Annotations:

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_001159812 -> EC 3.4.22.68

by @meso_cacase at DBCLS
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