JOSD1 (22q13.1),dj508I15.2 (DUB alaruhmästä MJD)

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LOCUS       NP_001347164             202 aa            linear   PRI 15-JUN-2018
DEFINITION  josephin-1 [Homo sapiens].
ACCESSION   NP_001347164 XP_005261936
VERSION     NP_001347164.1
DBSOURCE    REFSEQ: accession NM_001360235.1
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  (residues 1 to 202)
  AUTHORS   Wang X, Zhang L, Zhang Y, Zhao P, Qian L, Yuan Y, Liu J, Cheng Q,
            Xu W, Zuo Y, Guo T, Yu Z and Zheng H.
  TITLE     JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by
            Deubiquitinating and Stabilizing SOCS1
  JOURNAL   Viral Immunol. 30 (5), 342-349 (2017)
   PUBMED   28355105
  REMARK    GeneRIF: In this study, the authors report that JOSD1 plays an
            important role in regulating type-I interferon (IFN-I)-mediated
            antiviral activity. JOSD1 physically interacts with SOCS1, which is
            an essential negative regulator of many cytokines signaling, and
            enhances SOCS1 stability by deubiquitinating K48-linked
            polyubiquitination of SOCS1.
REFERENCE   2  (residues 1 to 202)
  AUTHORS   Yu H, Tardivo L, Tam S, Weiner E, Gebreab F, Fan C, Svrzikapa N,
            Hirozane-Kishikawa T, Rietman E, Yang X, Sahalie J, Salehi-Ashtiani
            K, Hao T, Cusick ME, Hill DE, Roth FP, Braun P and Vidal M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat. Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   3  (residues 1 to 202)
  AUTHORS   Ghosh D, Lippert D, Krokhin O, Cortens JP and Wilkins JA.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   4  (residues 1 to 202)
  AUTHORS   Sakai N, Terami H, Suzuki S, Haga M, Nomoto K, Tsuchida N,
            Morohashi K, Saito N, Asada M, Hashimoto M, Harada D, Asahara H,
            Ishikawa T, Shimada F and Sakurada K.
  TITLE     Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by
            large-scale gain and loss of function studies
(The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Steroidogenic factor 1 helps control the activity of several genes related to the development of the gonads (ovaries and testes) and the adrenal glands, which are small glands located on top of each kidney. )
  JOURNAL   J. Endocrinol. 198 (3), 489-497 (2008)
   PUBMED   18579725
  REMARK    GeneRIF: The gain of function studies indicated that Josephin
            domain containing 1 activate NR5A1 gene expression.
REFERENCE   5  (residues 1 to 202)
  AUTHORS   Albrecht M, Hoffmann D, Evert BO, Schmitt I, Wullner U and Lengauer
            T.
  TITLE     Structural modeling of ataxin-3 reveals distant homology to
            adaptins
  JOURNAL   Proteins 50 (2), 355-370 (2003)
   PUBMED   12486728
REFERENCE   6  (residues 1 to 202)
  AUTHORS   Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
            Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
            JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
            Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
            O'Brien KP et al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB064998.1, HY026936.1, BC015026.3 and CA449010.1.
            On Jan 29, 2018 this sequence version replaced XP_005261936.1.
            
            Transcript Variant: This variant (2) contains a different 5'
            non-coding exon compared to variant 1. Variants 1, 2, and 3 encode
            the same protein.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660803.252891.1, SRR1803613.281012.1
                                    [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1970526, SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..202
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..202
                     /product="josephin-1"
                     /EC_number="3.4.19.12"
                     /note="josephin domain-containing 1; josephin
                     domain-containing protein 1"
                     /calculated_mol_wt=23067
     Site            15
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:23186163};
                     propagated from UniProtKB/Swiss-Prot (Q15040.1)"
     Region          35..173
                     /region_name="Josephin"
                     /note="Josephin; pfam02099"
                     /db_xref="CDD:307972"
     CDS             1..202
                     /gene="JOSD1"
                     /gene_synonym="dJ508I15.2"
                     /coded_by="NM_001360235.1:794..1402"
                     /db_xref="CCDS:CCDS13976.1"
                     /db_xref="GeneID:9929"
                     /db_xref="HGNC:HGNC:28953"
                     /db_xref="MIM:615323"
ORIGIN      
        1 mscvpwkgdk akseslelpq aappqiyhek qrrelcalha lnnvfqdsna ftrdtlqeif
       61 qrlspntmvt phkksmlgng nydvnvimaa lqtkgyeavw wdkrrdvgvi altnvmgfim
      121 nlpsslcwgp lklplkrqhw icvrevggay ynldsklkmp ewiggeselr kflkhhlrgk
      181 ncelllvvpe eveahqswrt dv
//