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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
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Genomic context

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See JOSD1 in Genome Data Viewer
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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