Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PSMG1 (proteasome assembly chaperone 1)

Identity

Alias (NCBI)C21LRP
DSCR2
LRPC21
PAC-1
PAC1
HGNC (Hugo) PSMG1
HGNC Alias symbc21-LRP
LRPC21
PAC1
HGNC Previous nameDSCR2
HGNC Previous nameDown syndrome critical region gene 2
 proteasome (prosome, macropain) assembly chaperone 1
LocusID (NCBI) 8624
Atlas_Id 52183
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 39175446 and ends at 39183514 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)

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)PSMG1   3043
Cards
Entrez_Gene (NCBI)PSMG1  8624  proteasome assembly chaperone 1
AliasesC21LRP; DSCR2; LRPC21; PAC-1; 
PAC1
GeneCards (Weizmann)PSMG1
Ensembl hg19 (Hinxton)ENSG00000183527 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183527 [Gene_View]  ENSG00000183527 [Sequence]  chr21:39175446-39183514 [Contig_View]  PSMG1 [Vega]
ICGC DataPortalENSG00000183527
TCGA cBioPortalPSMG1
AceView (NCBI)PSMG1
Genatlas (Paris)PSMG1
WikiGenes8624
SOURCE (Princeton)PSMG1
Genetics Home Reference (NIH)PSMG1
Genomic and cartography
GoldenPath hg38 (UCSC)PSMG1  -     chr21:39175446-39183514 -  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSMG1  -     21q22.2   [Description]    (hg19-Feb_2009)
GoldenPathPSMG1 - 21q22.2 [CytoView hg19]  PSMG1 - 21q22.2 [CytoView hg38]
ImmunoBaseENSG00000183527
genome Data Viewer NCBIPSMG1 [Mapview hg19]  
OMIM605296   
Gene and transcription
Genbank (Entrez)AA731200 AB451468 AF417108 AJ006291 AK001455
RefSeq transcript (Entrez)NM_001261824 NM_001320795 NM_003720 NM_203433
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSMG1
Alternative Splicing GalleryENSG00000183527
Gene ExpressionPSMG1 [ NCBI-GEO ]   PSMG1 [ EBI - ARRAY_EXPRESS ]   PSMG1 [ SEEK ]   PSMG1 [ MEM ]
Gene Expression Viewer (FireBrowse)PSMG1 [ Firebrowse - Broad ]
GenevisibleExpression of PSMG1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8624
GTEX Portal (Tissue expression)PSMG1
Human Protein AtlasENSG00000183527-PSMG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95456   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95456  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95456
Splice isoforms : SwissVarO95456
PhosPhoSitePlusO95456
Domains : Interpro (EBI)Proteasome_assmbl_chp_1   
Domain families : Pfam (Sanger)PAC1 (PF16094)   
Domain families : Pfam (NCBI)pfam16094   
Conserved Domain (NCBI)PSMG1
DMDM Disease mutations8624
Blocks (Seattle)PSMG1
SuperfamilyO95456
Human Protein Atlas [tissue]ENSG00000183527-PSMG1 [tissue]
Peptide AtlasO95456
HPRD05598
IPIIPI00030770   IPI00401072   IPI00657997   IPI00893118   IPI00917320   
Protein Interaction databases
DIP (DOE-UCLA)O95456
IntAct (EBI)O95456
FunCoupENSG00000183527
BioGRIDPSMG1
STRING (EMBL)PSMG1
ZODIACPSMG1
Ontologies - Pathways
QuickGOO95456
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  cytosol  cerebellar granule cell precursor proliferation  chaperone-mediated protein complex assembly  chaperone-mediated protein complex assembly  molecular adaptor activity  molecular adaptor activity  proteasome binding  proteasome core complex assembly  chaperone complex  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  cytosol  cerebellar granule cell precursor proliferation  chaperone-mediated protein complex assembly  chaperone-mediated protein complex assembly  molecular adaptor activity  molecular adaptor activity  proteasome binding  proteasome core complex assembly  chaperone complex  
NDEx NetworkPSMG1
Atlas of Cancer Signalling NetworkPSMG1
Wikipedia pathwaysPSMG1
Orthology - Evolution
OrthoDB8624
GeneTree (enSembl)ENSG00000183527
Phylogenetic Trees/Animal Genes : TreeFamPSMG1
HOGENOMO95456
Homologs : HomoloGenePSMG1
Homology/Alignments : Family Browser (UCSC)PSMG1
Gene fusions - Rearrangements
Fusion : QuiverPSMG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSMG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSMG1
dbVarPSMG1
ClinVarPSMG1
1000_GenomesPSMG1 
Exome Variant ServerPSMG1
GNOMAD BrowserENSG00000183527
Varsome BrowserPSMG1
Genetic variants : HAPMAP8624
Genomic Variants (DGV)PSMG1 [DGVbeta]
DECIPHERPSMG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSMG1 
Mutations
ICGC Data PortalPSMG1 
TCGA Data PortalPSMG1 
Broad Tumor PortalPSMG1
OASIS PortalPSMG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSMG1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPSMG1
Mutations and Diseases : HGMDPSMG1
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 PSMG1
DgiDB (Drug Gene Interaction Database)PSMG1
DoCM (Curated mutations)PSMG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSMG1 (select a term)
intoGenPSMG1
Cancer3DPSMG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605296   
Orphanet
DisGeNETPSMG1
MedgenPSMG1
Genetic Testing Registry PSMG1
NextProtO95456 [Medical]
TSGene8624
GENETestsPSMG1
Target ValidationPSMG1
Huge Navigator PSMG1 [HugePedia]
snp3D : Map Gene to Disease8624
BioCentury BCIQPSMG1
ClinGenPSMG1
Clinical trials, drugs, therapy
Protein Interactions : CTD8624
Pharm GKB GenePA162400229
Clinical trialPSMG1
Miscellaneous
canSAR (ICR)PSMG1 (select the gene name)
HarmonizomePSMG1
DataMed IndexPSMG1
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSMG1
EVEXPSMG1
GoPubMedPSMG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:31:49 CEST 2020

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