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    JOSD1 Josephin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 9929, updated on 7-Apr-2024

    Summary

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    Official Symbol
    JOSD1provided by HGNC
    Official Full Name
    Josephin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28953
    See related
    Ensembl:ENSG00000100221 MIM:615323; AllianceGenome:HGNC:28953
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ508I15.2
    Summary
    Predicted to enable thiol-dependent deubiquitinase. Predicted to be involved in protein deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38685543..38701403, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39155750..39171614, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39081548..39097408, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TOMM22 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949 Neighboring gene translocase of outer mitochondrial membrane 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39100707-39101392 Neighboring gene hESC enhancers GRCh37_chr22:39101393-39102078 and GRCh37_chr22:39102079-39102764 Neighboring gene GTP binding protein 1 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19017 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13731

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Small molecule inhibition of deubiquitinating enzyme JOSD1 as a novel targeted therapy for leukemias with mutant JAK2. Yang J, et al. Leukemia, 2022 Jan. PMID 34326465
    2. JOSD1 inhibits mitochondrial apoptotic signalling to drive acquired chemoresistance in gynaecological cancer by stabilizing MCL1. Wu X, et al. Cell Death Differ, 2020 Jan. PMID 31043700, Free PMC Article
    3. JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by Deubiquitinating and Stabilizing SOCS1. Wang X, et al. Viral Immunol, 2017 Jun. PMID 28355105
    4. Josephin domain of ataxin-3 contains two distinct ubiquitin-binding sites. Nicastro G, et al. Biopolymers, 2009 Dec. PMID 19382171
    5. JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. Seki T, et al. J Biol Chem, 2013 Jun 14. PMID 23625928, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JOSD1 inhibits mitochondrial apoptotic signalling to drive acquired chemoresistance in gynaecological cancer by stabilizing MCL1.
      Title: JOSD1 inhibits mitochondrial apoptotic signalling to drive acquired chemoresistance in gynaecological cancer by stabilizing MCL1.
    2. 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.
      Title: JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by Deubiquitinating and Stabilizing SOCS1.
    3. The gain of function studies indicated that Josephin domain containing 1 activate NR5A1 gene expression.
      Title: Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0063

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    josephin-1
    Names
    josephin domain-containing 1
    josephin domain-containing protein 1
    NP_001347164.1
    NP_001347165.1
    NP_055691.1
    XP_005261935.1
    XP_047297643.1
    XP_047297644.1
    XP_054182227.1
    XP_054182228.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001360235.2 → NP_001347164.1  josephin-1

      Status: VALIDATED

      Description
      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.
      Source sequence(s)
      BC015026, CA449010, DB064998, HY026936
      Consensus CDS
      CCDS13976.1
      UniProtKB/Swiss-Prot
      A8K712, Q15040
      UniProtKB/TrEMBL
      Q6IB81
      Conserved Domains (1) summary
      pfam02099
      Location:31 → 173
      Josephin

    2. NM_001360236.2 → NP_001347165.1  josephin-1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains a different 5' non-coding exon compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL021707, BC015026, CA449010, DB152274, HY026936
      Consensus CDS
      CCDS13976.1
      UniProtKB/Swiss-Prot
      A8K712, Q15040
      UniProtKB/TrEMBL
      Q6IB81
      Related
      ENSP00000506752.1, ENST00000683374.1
      Conserved Domains (1) summary
      pfam02099
      Location:31 → 173
      Josephin

    3. NM_014876.7 → NP_055691.1  josephin-1

      See identical proteins and their annotated locations for NP_055691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC015026, CA449010, HY026936
      Consensus CDS
      CCDS13976.1
      UniProtKB/Swiss-Prot
      A8K712, Q15040
      UniProtKB/TrEMBL
      Q6IB81
      Conserved Domains (1) summary
      pfam02099
      Location:31 → 173
      Josephin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38685543..38701403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261878.4 → XP_005261935.1  josephin-1 isoform X1

      See identical proteins and their annotated locations for XP_005261935.1

      UniProtKB/Swiss-Prot
      A8K712, Q15040
      UniProtKB/TrEMBL
      Q6IB81
      Conserved Domains (1) summary
      pfam02099
      Location:31 → 173
      Josephin

    2. XM_047441688.1 → XP_047297644.1  josephin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K712, Q15040

    3. XM_047441687.1 → XP_047297643.1  josephin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K712, Q15040
      Related
      ENSP00000216039.5, ENST00000216039.9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39155750..39171614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326252.1 → XP_054182227.1  josephin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K712, Q15040

    2. XM_054326253.1 → XP_054182228.1  josephin-1 isoform X1

      UniProtKB/Swiss-Prot
      A8K712, Q15040
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15040.1 GenPept UniProtKB/Swiss-Prot:Q15040

    Gene LinkOut

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