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JOSD1 (Josephin domain containing 1)

Identity

Alias_symbol (synonym)KIAA0063
Other aliasdJ508I15.2
HGNC (Hugo) JOSD1
LocusID (NCBI) 9929
Atlas_Id 54389
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39081548 and ends at 39096459 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
JOSD1 (22q13.1) / RPS19BP1 (22q13.1)SLC16A13 (17p13.1) / JOSD1 (22q13.1)ZC4H2 (Xq11.2) / JOSD1 (22q13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)JOSD1   28953
Cards
Entrez_Gene (NCBI)JOSD1  9929  Josephin domain containing 1
AliasesdJ508I15.2
GeneCards (Weizmann)JOSD1
Ensembl hg19 (Hinxton)ENSG00000100221 [Gene_View]  chr22:39081548-39096459 [Contig_View]  JOSD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100221 [Gene_View]  chr22:39081548-39096459 [Contig_View]  JOSD1 [Vega]
ICGC DataPortalENSG00000100221
TCGA cBioPortalJOSD1
AceView (NCBI)JOSD1
Genatlas (Paris)JOSD1
WikiGenes9929
SOURCE (Princeton)JOSD1
Genetics Home Reference (NIH)JOSD1
Genomic and cartography
GoldenPath hg19 (UCSC)JOSD1  -     chr22:39081548-39096459 -  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)JOSD1  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblJOSD1 - 22q13.1 [CytoView hg19]  JOSD1 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIJOSD1 [Mapview hg19]  JOSD1 [Mapview hg38]
OMIM615323   
Gene and transcription
Genbank (Entrez)AK291827 BC015026 BX538323 CR456473 CR456923
RefSeq transcript (Entrez)NM_014876
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)JOSD1
Cluster EST : UnigeneHs.3094 [ NCBI ]
CGAP (NCI)Hs.3094
Alternative Splicing GalleryENSG00000100221
Gene ExpressionJOSD1 [ NCBI-GEO ]   JOSD1 [ EBI - ARRAY_EXPRESS ]   JOSD1 [ SEEK ]   JOSD1 [ MEM ]
Gene Expression Viewer (FireBrowse)JOSD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9929
GTEX Portal (Tissue expression)JOSD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15040   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15040  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15040
Splice isoforms : SwissVarQ15040
Catalytic activity : Enzyme3.4.19.12 [ Enzyme-Expasy ]   3.4.19.123.4.19.12 [ IntEnz-EBI ]   3.4.19.12 [ BRENDA ]   3.4.19.12 [ KEGG ]   
PhosPhoSitePlusQ15040
Domaine pattern : Prosite (Expaxy)JOSEPHIN (PS50957)   
Domains : Interpro (EBI)Josephin   
Domain families : Pfam (Sanger)Josephin (PF02099)   
Domain families : Pfam (NCBI)pfam02099   
Conserved Domain (NCBI)JOSD1
DMDM Disease mutations9929
Blocks (Seattle)JOSD1
SuperfamilyQ15040
Human Protein AtlasENSG00000100221
Peptide AtlasQ15040
HPRD08823
IPIIPI00014231   IPI00878504   IPI00878137   IPI00878857   IPI00878330   IPI01012266   
Protein Interaction databases
DIP (DOE-UCLA)Q15040
IntAct (EBI)Q15040
FunCoupENSG00000100221
BioGRIDJOSD1
STRING (EMBL)JOSD1
ZODIACJOSD1
Ontologies - Pathways
QuickGOQ15040
Ontology : AmiGOthiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  plasma membrane  omega peptidase activity  membrane  protein deubiquitination  
Ontology : EGO-EBIthiol-dependent ubiquitin-specific protease activity  protein binding  cytoplasm  plasma membrane  omega peptidase activity  membrane  protein deubiquitination  
NDEx NetworkJOSD1
Atlas of Cancer Signalling NetworkJOSD1
Wikipedia pathwaysJOSD1
Orthology - Evolution
OrthoDB9929
GeneTree (enSembl)ENSG00000100221
Phylogenetic Trees/Animal Genes : TreeFamJOSD1
HOVERGENQ15040
HOGENOMQ15040
Homologs : HomoloGeneJOSD1
Homology/Alignments : Family Browser (UCSC)JOSD1
Gene fusions - Rearrangements
Fusion : MitelmanJOSD1/RPS19BP1 [22q13.1/22q13.1]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJOSD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JOSD1
dbVarJOSD1
ClinVarJOSD1
1000_GenomesJOSD1 
Exome Variant ServerJOSD1
ExAC (Exome Aggregation Consortium)JOSD1 (select the gene name)
Genetic variants : HAPMAP9929
Genomic Variants (DGV)JOSD1 [DGVbeta]
DECIPHER (Syndromes)22:39081548-39096459  ENSG00000100221
CONAN: Copy Number AnalysisJOSD1 
Mutations
ICGC Data PortalJOSD1 
TCGA Data PortalJOSD1 
Broad Tumor PortalJOSD1
OASIS PortalJOSD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICJOSD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJOSD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JOSD1
DgiDB (Drug Gene Interaction Database)JOSD1
DoCM (Curated mutations)JOSD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JOSD1 (select a term)
intoGenJOSD1
Cancer3DJOSD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615323   
Orphanet
MedgenJOSD1
Genetic Testing Registry JOSD1
NextProtQ15040 [Medical]
TSGene9929
GENETestsJOSD1
Huge Navigator JOSD1 [HugePedia]
snp3D : Map Gene to Disease9929
BioCentury BCIQJOSD1
ClinGenJOSD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9929
Chemical/Pharm GKB GenePA142671644
Clinical trialJOSD1
Miscellaneous
canSAR (ICR)JOSD1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJOSD1
EVEXJOSD1
GoPubMedJOSD1
iHOPJOSD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:22 CET 2017

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