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Aliases for JOSD1 Gene

Aliases for JOSD1 Gene

  • Josephin Domain Containing 1 2 3 5
  • Josephin Domain-Containing Protein 1 3 4
  • Josephin Domain-Containing 1 3
  • EC 3.4.19.12 4
  • DJ508I15.2 3
  • Josephin-1 3
  • KIAA0063 4
  • JSPH1 4

External Ids for JOSD1 Gene

Previous GeneCards Identifiers for JOSD1 Gene

  • GC22M037407
  • GC22M039081
  • GC22M022047

Summaries for JOSD1 Gene

GeneCards Summary for JOSD1 Gene

JOSD1 (Josephin Domain Containing 1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Josephin domain DUBs. GO annotations related to this gene include omega peptidase activity. An important paralog of this gene is JOSD2.

UniProtKB/Swiss-Prot for JOSD1 Gene

  • Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves Lys-63-linked and Lys-48-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JOSD1 Gene

Genomics for JOSD1 Gene

Regulatory Elements for JOSD1 Gene

Enhancers for JOSD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F038702 1.1 ENCODE 18.5 -4.1 -4086 6.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 CBY1 FAM227A ENSG00000228274 JOSD1 SNORD83B GTPBP1 GC22M041369
GH22F039462 1.6 FANTOM5 Ensembl ENCODE 10.9 -767.7 -767684 14.5 HDGF PKNOX1 MLX ZFP64 ARID4B DMAP1 YY1 ZNF143 ZNF207 SP5 ENSG00000272834 SNORD83B TAB1 ENSG00000228274 PRDX3P1 MGAT3 ENSG00000227413 CBY1 SYNGR1 SNORD83A
GH22F039493 1.6 FANTOM5 Ensembl ENCODE 10.9 -793.5 -793545 3.8 ATF1 PKNOX1 ZFP64 RAD21 ZNF354C ZNF138 ZNF143 FOS EGR2 THAP11 ENSG00000272834 SNORD83B ENSG00000227413 TAB1 CBY1 ENSG00000228274 PRDX3P1 ATF4 ENSG00000230149 ENSG00000273076
GH22F038502 1.1 ENCODE 15.1 +195.8 195844 5.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B YBX1 FEZF1 DMAP1 ZNF2 YY1 SNORD83B ENSG00000228274 ENSG00000230149 ENSG00000273076 PRDX3P1 SNORD83A JOSD1 ENSG00000272669 ENSG00000225450 KDELR3
GH22F037801 1.5 FANTOM5 ENCODE 10.9 +896.0 896027 7.3 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC GCAT H1F0 GALR3 KDELR3 ANKRD54 MIR658 MIR659 EIF3L CBY1 PRDX3P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around JOSD1 on UCSC Golden Path with GeneCards custom track

Promoters for JOSD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000618255 1056 3001 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for JOSD1 Gene

Chromosome:
22
Start:
38,685,543 bp from pter
End:
38,701,556 bp from pter
Size:
16,014 bases
Orientation:
Minus strand

Genomic View for JOSD1 Gene

Genes around JOSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JOSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JOSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JOSD1 Gene

Proteins for JOSD1 Gene

  • Protein details for JOSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15040-JOS1_HUMAN
    Recommended name:
    Josephin-1
    Protein Accession:
    Q15040
    Secondary Accessions:
    • A8K712

    Protein attributes for JOSD1 Gene

    Size:
    202 amino acids
    Molecular mass:
    23198 Da
    Quaternary structure:
    • Interacts with beta-actin/ACTB.
    SequenceCaution:
    • Sequence=BAA06682.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for JOSD1 Gene

Post-translational modifications for JOSD1 Gene

  • Monoubiquitinated (By similarity). Ubiquitination activates deubiquitination activity in vitro.
  • Ubiquitination at Lys 74 and Lys 180
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for JOSD1 Gene

Domains & Families for JOSD1 Gene

Gene Families for JOSD1 Gene

Protein Domains for JOSD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for JOSD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15040

UniProtKB/Swiss-Prot:

JOS1_HUMAN :
  • Contains 1 Josephin domain.
Domain:
  • Contains 1 Josephin domain.
genes like me logo Genes that share domains with JOSD1: view

Function for JOSD1 Gene

Molecular function for JOSD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot Function:
Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves Lys-63-linked and Lys-48-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity.

Enzyme Numbers (IUBMB) for JOSD1 Gene

Gene Ontology (GO) - Molecular Function for JOSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA --
GO:0005515 protein binding IPI 21516116
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with JOSD1: view
genes like me logo Genes that share phenotypes with JOSD1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JOSD1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JOSD1 Gene

Localization for JOSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JOSD1 Gene

Cell membrane. Cytoplasm. Note=Ubiquitination increases localization the plasma membrane. In the cytosol, the unubiquitinated form may be associated with the cytoskeleton via ACTB-binding.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JOSD1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JOSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with JOSD1: view

Pathways & Interactions for JOSD1 Gene

genes like me logo Genes that share pathways with JOSD1: view

Pathways by source for JOSD1 Gene

Gene Ontology (GO) - Biological Process for JOSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016579 protein deubiquitination IEA,IBA --
genes like me logo Genes that share ontologies with JOSD1: view

No data available for SIGNOR curated interactions for JOSD1 Gene

Transcripts for JOSD1 Gene

Unigene Clusters for JOSD1 Gene

Josephin domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JOSD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JOSD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - -
SP2:
SP3: -
SP4: -

Relevant External Links for JOSD1 Gene

GeneLoc Exon Structure for
JOSD1
ECgene alternative splicing isoforms for
JOSD1

Expression for JOSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JOSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JOSD1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JOSD1 Gene



Protein tissue co-expression partners for JOSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of JOSD1 Gene:

JOSD1

SOURCE GeneReport for Unigene cluster for JOSD1 Gene:

Hs.3094
genes like me logo Genes that share expression patterns with JOSD1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for JOSD1 Gene

Orthologs for JOSD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for JOSD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia JOSD1 34 35
  • 100 (n)
mouse
(Mus musculus)
Mammalia Josd1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JOSD1 34 35
  • 94.39 (n)
dog
(Canis familiaris)
Mammalia JOSD1 34 35
  • 94.22 (n)
oppossum
(Monodelphis domestica)
Mammalia JOSD1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JOSD1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Josd1 34
  • 90.43 (n)
chicken
(Gallus gallus)
Aves JOSD1 34 35
  • 84.98 (n)
lizard
(Anolis carolinensis)
Reptilia JOSD1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia josd1 34
  • 76.29 (n)
zebrafish
(Danio rerio)
Actinopterygii josd1 34 35 35
  • 71.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3781 35
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea josd-1 35
  • 38 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons JOSL 34
  • 53.51 (n)
rice
(Oryza sativa)
Liliopsida Os03g0265200 34
  • 50.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8567 35
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2421 34
Species where no ortholog for JOSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JOSD1 Gene

ENSEMBL:
Gene Tree for JOSD1 (if available)
TreeFam:
Gene Tree for JOSD1 (if available)

Paralogs for JOSD1 Gene

Paralogs for JOSD1 Gene

(2) SIMAP similar genes for JOSD1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for JOSD1 Gene

genes like me logo Genes that share paralogs with JOSD1: view

Variants for JOSD1 Gene

Sequence variations from dbSNP and Humsavar for JOSD1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10135 -- 38,686,169(-) GCAAC(C/T)GGCCG utr-variant-3-prime
rs111256970 -- 38,702,390(+) ATGTT(A/G)GCCAG upstream-variant-2KB
rs111261139 -- 38,699,622(+) TCCTA(A/G)CCCAC intron-variant
rs111461593 -- 38,691,727(+) GCAAT(A/G)GAGTG intron-variant
rs111521148 -- 38,689,912(+) CATTC(-/TG/TGTG)TGTGT intron-variant

Variation tolerance for JOSD1 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JOSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JOSD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for JOSD1 Gene

Disorders for JOSD1 Gene

Relevant External Links for JOSD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JOSD1

No disorders were found for JOSD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JOSD1 Gene

Publications for JOSD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N. … Tabata S. (DNA Res. 1994) 2 3 4 64
  2. JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. (PMID: 23625928) Seki T. … Paulson H.L. (J. Biol. Chem. 2013) 3 4 64
  3. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks S.D. … Loll P.J. (J. Biol. Chem. 2011) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for JOSD1 Gene

Sources for JOSD1 Gene

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