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PSMD1 (proteasome 26S subunit, non-ATPase 1)

Identity

Alias_namesproteasome (prosome
Alias_symbol (synonym)S1
P112
Rpn2
Other alias
HGNC (Hugo) PSMD1
LocusID (NCBI) 5707
Atlas_Id 53035
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 231056864 and ends at 231172826 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARMC9 (2q37.1) / PSMD1 (2q37.1)ATP2B3 (Xq28) / PSMD1 (2q37.1)KNCN (1p33) / PSMD1 (2q37.1)
PSMD1 (2q37.1) / ATP2C1 (3q22.1)PSMD1 (2q37.1) / DNER (2q36.3)PSMD1 (2q37.1) / PSMD1 (2q37.1)
PSMD1 (2q37.1) / SP140L (2q37.1)TRIM26 (6p22.1) / PSMD1 (2q37.1)PSMD1 2q37.1 / ATP2C1 3q22.1
PSMD1 2q37.1 / DNER 2q36.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;2)(q36;q37) PSMD1/DNER
t(2;3)(q37;q22) PSMD1/ATP2C1


External links

Nomenclature
HGNC (Hugo)PSMD1   9554
Cards
Entrez_Gene (NCBI)PSMD1  5707  proteasome 26S subunit, non-ATPase 1
AliasesP112; Rpn2; S1
GeneCards (Weizmann)PSMD1
Ensembl hg19 (Hinxton)ENSG00000173692 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173692 [Gene_View]  ENSG00000173692 [Sequence]  chr2:231056864-231172826 [Contig_View]  PSMD1 [Vega]
ICGC DataPortalENSG00000173692
TCGA cBioPortalPSMD1
AceView (NCBI)PSMD1
Genatlas (Paris)PSMD1
WikiGenes5707
SOURCE (Princeton)PSMD1
Genetics Home Reference (NIH)PSMD1
Genomic and cartography
GoldenPath hg38 (UCSC)PSMD1  -     chr2:231056864-231172826 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSMD1  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblPSMD1 - 2q37.1 [CytoView hg19]  PSMD1 - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBIPSMD1 [Mapview hg19]  PSMD1 [Mapview hg38]
OMIM617842   
Gene and transcription
Genbank (Entrez)AA169719 AK307415 AK307513 AK312528 BC001053
RefSeq transcript (Entrez)NM_001191037 NM_002807
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSMD1
Cluster EST : UnigeneHs.3887 [ NCBI ]
CGAP (NCI)Hs.3887
Alternative Splicing GalleryENSG00000173692
Gene ExpressionPSMD1 [ NCBI-GEO ]   PSMD1 [ EBI - ARRAY_EXPRESS ]   PSMD1 [ SEEK ]   PSMD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PSMD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5707
GTEX Portal (Tissue expression)PSMD1
Human Protein AtlasENSG00000173692-PSMD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99460   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99460  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99460
Splice isoforms : SwissVarQ99460
PhosPhoSitePlusQ99460
Domains : Interpro (EBI)26S_Psome_Rpn2    ARM-like    ARM-type_fold    Proteasome/cyclosome_rpt    PSMD1   
Domain families : Pfam (Sanger)PC_rep (PF01851)   
Domain families : Pfam (NCBI)pfam01851   
Conserved Domain (NCBI)PSMD1
DMDM Disease mutations5707
Blocks (Seattle)PSMD1
PDB (SRS)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB (PDBSum)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB (IMB)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
PDB (RSDB)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
Structural Biology KnowledgeBase2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
SCOP (Structural Classification of Proteins)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
CATH (Classification of proteins structures)2NBK    5GJQ    5GJR    5L4K    5LN3    5M32    5T0C    5T0G    5T0H    5T0I    5T0J    5V1Y    5V1Z    5VGZ    5VHF    5VHH    5VHI    5VHS   
SuperfamilyQ99460
Human Protein Atlas [tissue]ENSG00000173692-PSMD1 [tissue]
Peptide AtlasQ99460
HPRD10169
IPIIPI00299608   IPI00456695   IPI00916965   IPI00916632   IPI00916809   IPI00917594   
Protein Interaction databases
DIP (DOE-UCLA)Q99460
IntAct (EBI)Q99460
FunCoupENSG00000173692
BioGRIDPSMD1
STRING (EMBL)PSMD1
ZODIACPSMD1
Ontologies - Pathways
QuickGOQ99460
Ontology : AmiGOproteasome complex  endopeptidase activity  protein binding  extracellular region  nucleus  nucleoplasm  cytosol  proteasome regulatory particle  proteasome regulatory particle, base subcomplex  membrane  protein deubiquitination  proteasome accessory complex  enzyme regulator activity  ubiquitin protein ligase binding  proteasome storage granule  azurophil granule lumen  regulation of protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  neutrophil degranulation  post-translational protein modification  regulation of catalytic activity  
Ontology : EGO-EBIproteasome complex  endopeptidase activity  protein binding  extracellular region  nucleus  nucleoplasm  cytosol  proteasome regulatory particle  proteasome regulatory particle, base subcomplex  membrane  protein deubiquitination  proteasome accessory complex  enzyme regulator activity  ubiquitin protein ligase binding  proteasome storage granule  azurophil granule lumen  regulation of protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  neutrophil degranulation  post-translational protein modification  regulation of catalytic activity  
Pathways : KEGGProteasome    Epstein-Barr virus infection   
NDEx NetworkPSMD1
Atlas of Cancer Signalling NetworkPSMD1
Wikipedia pathwaysPSMD1
Orthology - Evolution
OrthoDB5707
GeneTree (enSembl)ENSG00000173692
Phylogenetic Trees/Animal Genes : TreeFamPSMD1
HOVERGENQ99460
HOGENOMQ99460
Homologs : HomoloGenePSMD1
Homology/Alignments : Family Browser (UCSC)PSMD1
Gene fusions - Rearrangements
Fusion : MitelmanPSMD1/ATP2C1 [2q37.1/3q22.1]  
Fusion : MitelmanPSMD1/DNER [2q37.1/2q36.3]  [t(2;2)(q36;q37)]  
Fusion PortalPSMD1 2q37.1 ATP2C1 3q22.1 HNSC
Fusion PortalPSMD1 2q37.1 DNER 2q36.3 GBM
Fusion : QuiverPSMD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSMD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSMD1
dbVarPSMD1
ClinVarPSMD1
1000_GenomesPSMD1 
Exome Variant ServerPSMD1
ExAC (Exome Aggregation Consortium)ENSG00000173692
GNOMAD BrowserENSG00000173692
Varsome BrowserPSMD1
Genetic variants : HAPMAP5707
Genomic Variants (DGV)PSMD1 [DGVbeta]
DECIPHERPSMD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSMD1 
Mutations
ICGC Data PortalPSMD1 
TCGA Data PortalPSMD1 
Broad Tumor PortalPSMD1
OASIS PortalPSMD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSMD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPSMD1
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 PSMD1
DgiDB (Drug Gene Interaction Database)PSMD1
DoCM (Curated mutations)PSMD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSMD1 (select a term)
intoGenPSMD1
Cancer3DPSMD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617842   
Orphanet
DisGeNETPSMD1
MedgenPSMD1
Genetic Testing Registry PSMD1
NextProtQ99460 [Medical]
TSGene5707
GENETestsPSMD1
Target ValidationPSMD1
Huge Navigator PSMD1 [HugePedia]
snp3D : Map Gene to Disease5707
BioCentury BCIQPSMD1
ClinGenPSMD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5707
Chemical/Pharm GKB GenePA33899
Clinical trialPSMD1
Miscellaneous
canSAR (ICR)PSMD1 (select the gene name)
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSMD1
EVEXPSMD1
GoPubMedPSMD1
iHOPPSMD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:32:57 CET 2018

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