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ZMPSTE24 (zinc metallopeptidase STE24)

Identity

Alias_nameszinc metalloproteinase (STE24 homolog, yeast)
zinc metallopeptidase (STE24 homolog, yeast)
zinc metallopeptidase STE24 homolog (S. cerevisiae)
Alias_symbol (synonym)FACE-1
Ste24p
STE24
HGPS
PRO1
Other aliasFACE1
HGNC (Hugo) ZMPSTE24
LocusID (NCBI) 10269
Atlas_Id 42868
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 40258050 and ends at 40294184 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)
FBRSL1 (12q24.33) / ZMPSTE24 (1p34.2)ZMPSTE24 (1p34.2) / CAP1 (1p34.2)ZMPSTE24 (1p34.2) / MFSD2A (1p34.2)

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 ]
  Lung: Translocations in Small Cell Carcinoma
ZMPSTE24/MFSD2A (1p34)


External links

Nomenclature
HGNC (Hugo)ZMPSTE24   12877
LRG (Locus Reference Genomic)LRG_212
Cards
Entrez_Gene (NCBI)ZMPSTE24  10269  zinc metallopeptidase STE24
AliasesFACE-1; FACE1; HGPS; PRO1; 
STE24; Ste24p
GeneCards (Weizmann)ZMPSTE24
Ensembl hg19 (Hinxton)ENSG00000084073 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000084073 [Gene_View]  ENSG00000084073 [Sequence]  chr1:40258050-40294184 [Contig_View]  ZMPSTE24 [Vega]
ICGC DataPortalENSG00000084073
TCGA cBioPortalZMPSTE24
AceView (NCBI)ZMPSTE24
Genatlas (Paris)ZMPSTE24
WikiGenes10269
SOURCE (Princeton)ZMPSTE24
Genetics Home Reference (NIH)ZMPSTE24
Genomic and cartography
GoldenPath hg38 (UCSC)ZMPSTE24  -     chr1:40258050-40294184 +  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZMPSTE24  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathZMPSTE24 - 1p34.2 [CytoView hg19]  ZMPSTE24 - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000084073
Mapping of homologs : NCBIZMPSTE24 [Mapview hg19]  ZMPSTE24 [Mapview hg38]
OMIM275210   606480   608612   
Gene and transcription
Genbank (Entrez)AA436253 AB016068 AF064867 AI003768 AK027874
RefSeq transcript (Entrez)NM_005857
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZMPSTE24
Cluster EST : UnigeneHs.721062 [ NCBI ]
CGAP (NCI)Hs.721062
Alternative Splicing GalleryENSG00000084073
Gene ExpressionZMPSTE24 [ NCBI-GEO ]   ZMPSTE24 [ EBI - ARRAY_EXPRESS ]   ZMPSTE24 [ SEEK ]   ZMPSTE24 [ MEM ]
Gene Expression Viewer (FireBrowse)ZMPSTE24 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10269
GTEX Portal (Tissue expression)ZMPSTE24
Human Protein AtlasENSG00000084073-ZMPSTE24 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75844   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75844  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75844
Splice isoforms : SwissVarO75844
Catalytic activity : Enzyme3.4.24.84 [ Enzyme-Expasy ]   3.4.24.843.4.24.84 [ IntEnz-EBI ]   3.4.24.84 [ BRENDA ]   3.4.24.84 [ KEGG ]   
PhosPhoSitePlusO75844
Domains : Interpro (EBI)CAXX_Prtase_1    Peptidase_M48    Peptidase_M48_N   
Domain families : Pfam (Sanger)Peptidase_M48 (PF01435)    Peptidase_M48_N (PF16491)   
Domain families : Pfam (NCBI)pfam01435    pfam16491   
Conserved Domain (NCBI)ZMPSTE24
DMDM Disease mutations10269
Blocks (Seattle)ZMPSTE24
PDB (RSDB)2YPT    4AW6    5SYT   
PDB Europe2YPT    4AW6    5SYT   
PDB (PDBSum)2YPT    4AW6    5SYT   
PDB (IMB)2YPT    4AW6    5SYT   
Structural Biology KnowledgeBase2YPT    4AW6    5SYT   
SCOP (Structural Classification of Proteins)2YPT    4AW6    5SYT   
CATH (Classification of proteins structures)2YPT    4AW6    5SYT   
SuperfamilyO75844
Human Protein Atlas [tissue]ENSG00000084073-ZMPSTE24 [tissue]
Peptide AtlasO75844
HPRD07349
IPIIPI00027180   
Protein Interaction databases
DIP (DOE-UCLA)O75844
IntAct (EBI)O75844
FunCoupENSG00000084073
BioGRIDZMPSTE24
STRING (EMBL)ZMPSTE24
ZODIACZMPSTE24
Ontologies - Pathways
QuickGOO75844
Ontology : AmiGOliver development  hair follicle development  heart morphogenesis  ventricular cardiac muscle tissue development  cardiac ventricle development  growth plate cartilage development  double-stranded DNA binding  metalloendopeptidase activity  protein binding  nuclear inner membrane  DNA repair  proteolysis  inflammatory cell apoptotic process  nuclear envelope organization  adult walking behavior  metalloexopeptidase activity  determination of adult lifespan  regulation of cell shape  regulation of autophagy  regulation of glucose metabolic process  membrane  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  bone mineralization  prenylated protein catabolic process  regulation of bone mineralization  regulation of TOR signaling  regulation of hormone metabolic process  protein-containing complex  multicellular organism growth  regulation of multicellular organism growth  maintenance of rDNA  regulation of DNA damage response, signal transduction by p53 class mediator  histone H2B-K5 acetylation  hypomethylation of CpG island  cellular lipid metabolic process  metal ion binding  regulation of fibroblast proliferation  thymus development  cardiac muscle fiber development  regulation of defense response to virus  neuromuscular process  regulation of ventricular cardiac muscle cell membrane repolarization  kidney morphogenesis  cardiac conduction  CAMKK-AMPK signaling cascade  extracellular exosome  regulation of stress-activated protein kinase signaling cascade  cellular response to gamma radiation  CAAX-box protein processing  response to DNA damage checkpoint signaling  regulation of RNA polymerase II regulatory region sequence-specific DNA binding  regulation of mitotic cell cycle DNA replication  negative regulation of production of miRNAs involved in gene silencing by miRNA  calcium ion import into sarcoplasmic reticulum  histone H2A phosphorylation  regulation of histone H4-K16 acetylation  regulation of termination of RNA polymerase I transcription  regulation of cellular senescence  
Ontology : EGO-EBIliver development  hair follicle development  heart morphogenesis  ventricular cardiac muscle tissue development  cardiac ventricle development  growth plate cartilage development  double-stranded DNA binding  metalloendopeptidase activity  protein binding  nuclear inner membrane  DNA repair  proteolysis  inflammatory cell apoptotic process  nuclear envelope organization  adult walking behavior  metalloexopeptidase activity  determination of adult lifespan  regulation of cell shape  regulation of autophagy  regulation of glucose metabolic process  membrane  regulation of lipid metabolic process  integral component of endoplasmic reticulum membrane  bone mineralization  prenylated protein catabolic process  regulation of bone mineralization  regulation of TOR signaling  regulation of hormone metabolic process  protein-containing complex  multicellular organism growth  regulation of multicellular organism growth  maintenance of rDNA  regulation of DNA damage response, signal transduction by p53 class mediator  histone H2B-K5 acetylation  hypomethylation of CpG island  cellular lipid metabolic process  metal ion binding  regulation of fibroblast proliferation  thymus development  cardiac muscle fiber development  regulation of defense response to virus  neuromuscular process  regulation of ventricular cardiac muscle cell membrane repolarization  kidney morphogenesis  cardiac conduction  CAMKK-AMPK signaling cascade  extracellular exosome  regulation of stress-activated protein kinase signaling cascade  cellular response to gamma radiation  CAAX-box protein processing  response to DNA damage checkpoint signaling  regulation of RNA polymerase II regulatory region sequence-specific DNA binding  regulation of mitotic cell cycle DNA replication  negative regulation of production of miRNAs involved in gene silencing by miRNA  calcium ion import into sarcoplasmic reticulum  histone H2A phosphorylation  regulation of histone H4-K16 acetylation  regulation of termination of RNA polymerase I transcription  regulation of cellular senescence  
Pathways : KEGGTerpenoid backbone biosynthesis   
NDEx NetworkZMPSTE24
Atlas of Cancer Signalling NetworkZMPSTE24
Wikipedia pathwaysZMPSTE24
Orthology - Evolution
OrthoDB10269
GeneTree (enSembl)ENSG00000084073
Phylogenetic Trees/Animal Genes : TreeFamZMPSTE24
HOGENOMO75844
Homologs : HomoloGeneZMPSTE24
Homology/Alignments : Family Browser (UCSC)ZMPSTE24
Gene fusions - Rearrangements
Fusion : MitelmanZMPSTE24/MFSD2A [1p34.2/1p34.2]  
Fusion : QuiverZMPSTE24
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZMPSTE24 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZMPSTE24
dbVarZMPSTE24
ClinVarZMPSTE24
1000_GenomesZMPSTE24 
Exome Variant ServerZMPSTE24
ExAC (Exome Aggregation Consortium)ENSG00000084073
GNOMAD BrowserENSG00000084073
Varsome BrowserZMPSTE24
Genetic variants : HAPMAP10269
Genomic Variants (DGV)ZMPSTE24 [DGVbeta]
DECIPHERZMPSTE24 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZMPSTE24 
Mutations
ICGC Data PortalZMPSTE24 
TCGA Data PortalZMPSTE24 
Broad Tumor PortalZMPSTE24
OASIS PortalZMPSTE24 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZMPSTE24  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DZMPSTE24
Mutations and Diseases : HGMDZMPSTE24
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
BioMutasearch ZMPSTE24
DgiDB (Drug Gene Interaction Database)ZMPSTE24
DoCM (Curated mutations)ZMPSTE24 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZMPSTE24 (select a term)
intoGenZMPSTE24
Cancer3DZMPSTE24(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM275210    606480    608612   
Orphanet1751    2670    11985   
DisGeNETZMPSTE24
MedgenZMPSTE24
Genetic Testing Registry ZMPSTE24
NextProtO75844 [Medical]
TSGene10269
GENETestsZMPSTE24
Target ValidationZMPSTE24
Huge Navigator ZMPSTE24 [HugePedia]
snp3D : Map Gene to Disease10269
BioCentury BCIQZMPSTE24
ClinGenZMPSTE24
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10269
Chemical/Pharm GKB GenePA37466
Clinical trialZMPSTE24
Miscellaneous
canSAR (ICR)ZMPSTE24 (select the gene name)
DataMed IndexZMPSTE24
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZMPSTE24
EVEXZMPSTE24
GoPubMedZMPSTE24
iHOPZMPSTE24
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 : Wed Nov 13 18:16:07 CET 2019

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