Aliases for JOSD1 Gene

Aliases for JOSD1 Gene

  • Josephin Domain Containing 1 2 3 5
  • Josephin Domain-Containing Protein 1 3 4
  • Josephin-1 3 4
  • KIAA0063 2 4
  • Josephin Domain-Containing 1 3
  • EC 3.4.19.12 4
  • DJ508I15.2 3
  • JOSD1 5
  • JSPH1 4

External Ids for JOSD1 Gene

Previous GeneCards Identifiers for JOSD1 Gene

  • GC22M037407
  • GC22M039081
  • GC22M022047
  • GC22M038685
  • GC22M045387
  • GC22M046246

Summaries for JOSD1 Gene

GeneCards Summary for JOSD1 Gene

JOSD1 (Josephin Domain Containing 1) is a Protein Coding gene. Diseases associated with JOSD1 include Autosomal Dominant Cerebellar Ataxia. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include omega peptidase activity. An important paralog of this gene is JOSD2.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JOSD1 Gene

Genomics for JOSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for JOSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JOSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JOSD1

Top Transcription factor binding sites by QIAGEN in the JOSD1 gene promoter:
  • CP2
  • Evi-1
  • FOXO1
  • LCR-F1
  • N-Myc
  • POU2F1
  • POU2F1a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for JOSD1 Gene

Latest Assembly
chr22:38,683,916-38,701,556
(GRCh38/hg38)
Size:
17,641 bases
Orientation:
Minus strand

Previous Assembly
chr22:39,081,548-39,097,408
(GRCh37/hg19 by Entrez Gene)
Size:
15,861 bases
Orientation:
Minus strand

chr22:39,081,548-39,097,561
(GRCh37/hg19 by Ensembl)
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=Extended N-terminus.; 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 Lys74 and Lys180
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for JOSD1 Gene

Domains & Families for JOSD1 Gene

Gene Families for JOSD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for JOSD1 Gene

InterPro:

Suggested Antigen Peptide Sequences for JOSD1 Gene

GenScript: Design optimal peptide antigens:
  • Josephin domain-containing 1 (JOS1_HUMAN)
  • KIAA0063 protein (Q6IB81_HUMAN)
genes like me logo Genes that share domains with JOSD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for JOSD1 Gene

Function for JOSD1 Gene

Molecular function for JOSD1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:17696782, ECO:0000269|PubMed:21118805};.

Enzyme Numbers (IUBMB) for JOSD1 Gene

Phenotypes From GWAS Catalog 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 IEA,IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0008233 peptidase activity IEA --
GO:0016787 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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JOSD1

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
cytoskeleton 1
endosome 1
lysosome 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for JOSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with JOSD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for JOSD1 Gene

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,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with JOSD1: view

No data available for SIGNOR curated interactions for JOSD1 Gene

Drugs & Compounds for JOSD1 Gene

No Compound Related Data Available

Transcripts for JOSD1 Gene

mRNA/cDNA for JOSD1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JOSD1

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

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, MaxQB, and MOPED for JOSD1 Gene



Protein tissue co-expression partners for JOSD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JOSD1

SOURCE GeneReport for Unigene cluster for JOSD1 Gene:

Hs.3094

Evidence on tissue expression from TISSUES for JOSD1 Gene

  • Bone marrow(4.3)
  • Skin(4.3)
  • Liver(4.2)
  • Nervous system(3.4)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with JOSD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 100 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Josd1 30
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia JOSD1 29 30
  • 94.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia JOSD1 29 30
  • 94.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia JOSD1 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia JOSD1 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Josd1 29
  • 90.43 (n)
Chicken
(Gallus gallus)
Aves JOSD1 29 30
  • 84.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia JOSD1 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia josd1 29
  • 76.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii josd1 29 30 30
  • 71.31 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3781 30
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea josd-1 30
  • 38 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons JOSL 29
  • 53.51 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0265200 29
  • 50.42 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8567 30
  • 46 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2421 29
Species where no ortholog for JOSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for JOSD1: view image
Alliance of Genome Resources:
Additional Orthologs for JOSD1

Paralogs for JOSD1 Gene

Paralogs for JOSD1 Gene

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

  • JOS1_HUMAN
  • B0QY55_HUMAN
  • B0QY56_HUMAN
  • B0QY57_HUMAN
  • B0QY58_HUMAN
  • H0YGT9_HUMAN

Pseudogenes.org Pseudogenes for JOSD1 Gene

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

Variants for JOSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JOSD1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs116981948 Benign: not provided 38,689,429(-) C/A
NM_014876.7(JOSD1):c.186-5G>T
rs6001200 -- p.Ser48Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JOSD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for JOSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JOSD1
Leiden Open Variation Database (LOVD)
JOSD1

SNP Genotyping and Copy Number Assays for research

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

MalaCards: The human disease database

(1) MalaCards diseases for JOSD1 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search JOSD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for JOSD1

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

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
  2. JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. (PMID: 23625928) Seki T … Paulson HL (The Journal of biological chemistry 2013) 3 4
  3. Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks SD … Loll PJ (The Journal of biological chemistry 2011) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for JOSD1 Gene

Sources for JOSD1 Gene