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fredag 29 juni 2018

JOSD2 (19q13.33) Josephin Domain 2,

josephin-2 isoform 1 [Homo sapiens]

NCBI Reference Sequence: NP_001257568.1

LOCUS       NP_001257568             188 aa            linear   PRI 25-JUN-2018
DEFINITION  josephin-2 isoform 1 [Homo sapiens].
ACCESSION   NP_001257568
VERSION     NP_001257568.1
DBSOURCE    REFSEQ: accession NM_001270639.1
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 188)
  AUTHORS   Weeks SD, Grasty KC, Hernandez-Cuebas L and Loll PJ.
  TITLE     Crystal structure of a Josephin-ubiquitin complex: evolutionary
            restraints on ataxin-3 deubiquitinating activity
  JOURNAL   J. Biol. Chem. 286 (6), 4555-4565 (2011)
   PUBMED   21118805
REFERENCE   2  (residues 1 to 188)
  AUTHORS   Tzvetkov N and Breuer P.
  TITLE     Josephin domain-containing proteins from a variety of species are
            active de-ubiquitination enzymes
  JOURNAL   Biol. Chem. 388 (9), 973-978 (2007)
   PUBMED   17696782
REFERENCE   3  (residues 1 to 188)
  AUTHORS   Baek KH.
  TITLE     Cytokine-regulated protein degradation by the ubiquitination system
  JOURNAL   Curr. Protein Pept. Sci. 7 (2), 171-177 (2006)
   PUBMED   16611142
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY056543.1, BC062416.1 and
            BM970016.1.
            
            Summary: This gene encodes a protein containing a Josephin domain.
            Josephin domain-containing proteins are deubiquitinating enzymes
            which catalyze the hydrolysis of the bond between the C-terminal
            glycine of the ubiquitin peptide and protein substrates.
            Alternatively spliced transcript variants encoding multiple
            isoforms have been observed for this gene. [provided by RefSeq, Jul
            2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 2, 4 and
            5 encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.429197.1,
                                           ERR279846.11375.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267761, SAMN03267763
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..188
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     Protein         1..188
                     /product="josephin-2 isoform 1"
                     /EC_number="3.4.19.12"
                     /note="josephin-2; josephin domain-containing protein 2"
                     /calculated_mol_wt=20625
     Region          23..166
                     /region_name="Josephin"
                     /note="Josephin; pfam02099"
                     /db_xref="CDD:307972"
     CDS             1..188
                     /gene="JOSD2"
                     /gene_synonym="SBBI54"
                     /coded_by="NM_001270639.1:257..823"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS12797.1"
                     /db_xref="GeneID:126119"
                     /db_xref="HGNC:HGNC:28853"
                     /db_xref="MIM:615324"
ORIGIN      
        1 msqapgaqps pptvyherqr lelcavhaln nvlqqqlfsq eaadeickrl apdsrlnphr
       61 sllgtgnydv nvimaalqgl glaavwwdrr rplsqlalpq vlglilnlps pvslgllslp
      121 lrrrhwvalr qvdgvyynld sklrapealg dedgvrafla aalaqglcev llvvtkevee
      181 kgswlrtd
//

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