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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
  • 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. 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

Promoters for JOSD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JOSD1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for JOSD1 Gene at MOPED

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

Other Protein References for JOSD1 Gene

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:0008242 omega peptidase 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

In Situ Assay Products

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
Jensen Localization Image for JOSD1 Gene COMPARTMENTS Subcellular localization image for JOSD1 gene
Compartment Confidence
cytosol 3
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 --
genes like me logo Genes that share ontologies with JOSD1: view

Pathways & Interactions for JOSD1 Gene

SuperPathways for JOSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for JOSD1 Gene

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

No data available for Pathways by source and SIGNOR curated interactions for JOSD1 Gene

Drugs & Compounds for JOSD1 Gene

No Compound Related Data Available

Transcripts for JOSD1 Gene

Unigene Clusters for JOSD1 Gene

Josephin domain containing 1:
Representative Sequences:

Inhibitory RNA Products

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 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, MOPED, and MaxQB for JOSD1 Gene



SOURCE GeneReport for Unigene cluster for JOSD1 Gene Hs.3094

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

Protein tissue co-expression partners for JOSD1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia JOSD1 35
  • 94.39 (n)
  • 97.52 (a)
JOSD1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JOSD1 35
  • 94.22 (n)
  • 97.52 (a)
JOSD1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JOSD1 35
  • 100 (n)
  • 100 (a)
JOSD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Josd1 35
  • 90.43 (n)
  • 97.03 (a)
oppossum
(Monodelphis domestica)
Mammalia JOSD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Josd1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JOSD1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves JOSD1 35
  • 84.98 (n)
  • 94.55 (a)
JOSD1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia JOSD1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia josd1 35
  • 76.29 (n)
  • 85.57 (a)
zebrafish
(Danio rerio)
Actinopterygii josd1 35
  • 71.31 (n)
  • 75.12 (a)
josd1 36
  • 63 (a)
OneToMany
josd1 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3781 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea josd-1 36
  • 38 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons JOSL 35
  • 53.51 (n)
  • 44.22 (a)
rice
(Oryza sativa)
Liliopsida Os03g0265200 35
  • 50.42 (n)
  • 35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2421 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8567 36
  • 46 (a)
OneToOne
Species with no ortholog for JOSD1:
  • 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
rs6001200 - 38,699,844(+) GCATT(C/G)CTGTC reference, missense
rs10135 -- 38,686,169(-) GCAAC(C/T)GGCCG utr-variant-3-prime
rs1804090 -- 38,685,758(-) GGCCT(G/T)ACCCT utr-variant-3-prime
rs1804092 -- 38,686,913(-) TTGTC(C/T)CTACC utr-variant-3-prime
rs926299 -- 38,699,693(+) TAACG(C/G)AATCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JOSD1 Gene

Variant ID Type Subtype PubMed ID
nsv915067 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
JOSD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. 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
  5. A microarray of ubiquitylated proteins for profiling deubiquitylase activity reveals the critical roles of both chain and substrate. (PMID: 22626734) Loch C.M. … Strickler J.E. (Biochim. Biophys. Acta 2012) 3

Products for JOSD1 Gene

Sources for JOSD1 Gene

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