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PM20D1 (peptidase M20 domain containing 1)

Identity

Alias_symbol (synonym)FLJ32569
Cps1
Other alias
HGNC (Hugo) PM20D1
LocusID (NCBI) 148811
Atlas_Id 54545
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 205797150 and ends at 205819276 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NUCKS1 (1q32.1) / PM20D1 (1q32.1)NUCKS1 1q32.1 / PM20D1 1q32.1

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)PM20D1   26518
Cards
Entrez_Gene (NCBI)PM20D1  148811  peptidase M20 domain containing 1
AliasesCps1
GeneCards (Weizmann)PM20D1
Ensembl hg19 (Hinxton)ENSG00000162877 [Gene_View]  chr1:205797150-205819276 [Contig_View]  PM20D1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162877 [Gene_View]  chr1:205797150-205819276 [Contig_View]  PM20D1 [Vega]
ICGC DataPortalENSG00000162877
TCGA cBioPortalPM20D1
AceView (NCBI)PM20D1
Genatlas (Paris)PM20D1
WikiGenes148811
SOURCE (Princeton)PM20D1
Genetics Home Reference (NIH)PM20D1
Genomic and cartography
GoldenPath hg19 (UCSC)PM20D1  -     chr1:205797150-205819276 -  1q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PM20D1  -     1q32.1   [Description]    (hg38-Dec_2013)
EnsemblPM20D1 - 1q32.1 [CytoView hg19]  PM20D1 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIPM20D1 [Mapview hg19]  PM20D1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK057131 AK290786 BC039170 BC063477 BI832659
RefSeq transcript (Entrez)NM_152491
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)PM20D1
Cluster EST : UnigeneHs.177744 [ NCBI ]
CGAP (NCI)Hs.177744
Alternative Splicing GalleryENSG00000162877
Gene ExpressionPM20D1 [ NCBI-GEO ]   PM20D1 [ EBI - ARRAY_EXPRESS ]   PM20D1 [ SEEK ]   PM20D1 [ MEM ]
Gene Expression Viewer (FireBrowse)PM20D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148811
GTEX Portal (Tissue expression)PM20D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6GTS8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6GTS8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6GTS8
Splice isoforms : SwissVarQ6GTS8
Catalytic activity : Enzyme3.4.17.- [ Enzyme-Expasy ]   3.4.17.-3.4.17.- [ IntEnz-EBI ]   3.4.17.- [ BRENDA ]   3.4.17.- [ KEGG ]   
PhosPhoSitePlusQ6GTS8
Domains : Interpro (EBI)Peptidase_M20    Peptidase_M20_dimer   
Domain families : Pfam (Sanger)M20_dimer (PF07687)    Peptidase_M20 (PF01546)   
Domain families : Pfam (NCBI)pfam07687    pfam01546   
Conserved Domain (NCBI)PM20D1
DMDM Disease mutations148811
Blocks (Seattle)PM20D1
SuperfamilyQ6GTS8
Human Protein AtlasENSG00000162877
Peptide AtlasQ6GTS8
HPRD08133
IPIIPI00418413   IPI00844200   
Protein Interaction databases
DIP (DOE-UCLA)Q6GTS8
IntAct (EBI)Q6GTS8
FunCoupENSG00000162877
BioGRIDPM20D1
STRING (EMBL)PM20D1
ZODIACPM20D1
Ontologies - Pathways
QuickGOQ6GTS8
Ontology : AmiGOmolecular_function  proteolysis  peptidase activity  metal ion binding  regulation of defense response to virus by host  regulation of viral process  extracellular exosome  negative regulation of neuron death  
Ontology : EGO-EBImolecular_function  proteolysis  peptidase activity  metal ion binding  regulation of defense response to virus by host  regulation of viral process  extracellular exosome  negative regulation of neuron death  
NDEx NetworkPM20D1
Atlas of Cancer Signalling NetworkPM20D1
Wikipedia pathwaysPM20D1
Orthology - Evolution
OrthoDB148811
GeneTree (enSembl)ENSG00000162877
Phylogenetic Trees/Animal Genes : TreeFamPM20D1
HOVERGENQ6GTS8
HOGENOMQ6GTS8
Homologs : HomoloGenePM20D1
Homology/Alignments : Family Browser (UCSC)PM20D1
Gene fusions - Rearrangements
Fusion : MitelmanNUCKS1/PM20D1 [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion: TCGANUCKS1 1q32.1 PM20D1 1q32.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPM20D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PM20D1
dbVarPM20D1
ClinVarPM20D1
1000_GenomesPM20D1 
Exome Variant ServerPM20D1
ExAC (Exome Aggregation Consortium)PM20D1 (select the gene name)
Genetic variants : HAPMAP148811
Genomic Variants (DGV)PM20D1 [DGVbeta]
DECIPHER (Syndromes)1:205797150-205819276  ENSG00000162877
CONAN: Copy Number AnalysisPM20D1 
Mutations
ICGC Data PortalPM20D1 
TCGA Data PortalPM20D1 
Broad Tumor PortalPM20D1
OASIS PortalPM20D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPM20D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPM20D1
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 PM20D1
DgiDB (Drug Gene Interaction Database)PM20D1
DoCM (Curated mutations)PM20D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PM20D1 (select a term)
intoGenPM20D1
Cancer3DPM20D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPM20D1
Genetic Testing Registry PM20D1
NextProtQ6GTS8 [Medical]
TSGene148811
GENETestsPM20D1
Huge Navigator PM20D1 [HugePedia]
snp3D : Map Gene to Disease148811
BioCentury BCIQPM20D1
ClinGenPM20D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148811
Chemical/Pharm GKB GenePA162399772
Clinical trialPM20D1
Miscellaneous
canSAR (ICR)PM20D1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePM20D1
EVEXPM20D1
GoPubMedPM20D1
iHOPPM20D1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:48 CEST 2017

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