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ZMPSTE24 (zinc metallopeptidase STE24)

Identity

Other namesFACE-1
FACE1
HGPS
PRO1
STE24
Ste24p
HGNC (Hugo) ZMPSTE24
LocusID (NCBI) 10269
Location 1p34.2
Location_base_pair Starts at 40723722 and ends at 40759856 bp from pter ( according to hg19-Feb_2009)
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)ZMPSTE24   12877
Cards
Entrez_Gene (NCBI)ZMPSTE24  10269  zinc metallopeptidase STE24
GeneCards (Weizmann)ZMPSTE24
Ensembl hg19 (Hinxton)ENSG00000084073 [Gene_View]  chr1:40723722-40759856 [Contig_View]  ZMPSTE24 [Vega]
Ensembl hg38 (Hinxton)ENSG00000084073 [Gene_View]  chr1:40723722-40759856 [Contig_View]  ZMPSTE24 [Vega]
ICGC DataPortalENSG00000084073
cBioPortalZMPSTE24
AceView (NCBI)ZMPSTE24
Genatlas (Paris)ZMPSTE24
WikiGenes10269
SOURCE (Princeton)ZMPSTE24
Genomic and cartography
GoldenPath hg19 (UCSC)ZMPSTE24  -     chr1:40723722-40759856 +  1p34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ZMPSTE24  -     1p34.2   [Description]    (hg38-Dec_2013)
EnsemblZMPSTE24 - 1p34.2 [CytoView hg19]  ZMPSTE24 - 1p34.2 [CytoView hg38]
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)AC_000133 NC_000001 NC_018912 NG_008695 NT_032977 NW_001838577 NW_004929290
Consensus coding sequences : CCDS (NCBI)ZMPSTE24
Cluster EST : UnigeneHs.721062 [ NCBI ]
CGAP (NCI)Hs.721062
Alternative Splicing : Fast-db (Paris)GSHG0000414
Alternative Splicing GalleryENSG00000084073
Gene ExpressionZMPSTE24 [ NCBI-GEO ]     ZMPSTE24 [ SEEK ]   ZMPSTE24 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75844 (Uniprot)
NextProtO75844  [Medical]
With graphics : InterProO75844
Splice isoforms : SwissVarO75844 (Swissvar)
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 ]   
Domains : Interpro (EBI)CAXX_Prtase_1    Peptidase_M48   
Related proteins : CluSTrO75844
Domain families : Pfam (Sanger)Peptidase_M48 (PF01435)   
Domain families : Pfam (NCBI)pfam01435   
DMDM Disease mutations10269
Blocks (Seattle)O75844
PDB (SRS)2YPT    4AW6   
PDB (PDBSum)2YPT    4AW6   
PDB (IMB)2YPT    4AW6   
PDB (RSDB)2YPT    4AW6   
Human Protein AtlasENSG00000084073
Peptide AtlasO75844
HPRD07349
IPIIPI00027180   
Protein Interaction databases
DIP (DOE-UCLA)O75844
IntAct (EBI)O75844
FunCoupENSG00000084073
BioGRIDZMPSTE24
IntegromeDBZMPSTE24
STRING (EMBL)ZMPSTE24
Ontologies - Pathways
QuickGOO75844
Ontology : AmiGOmetalloendopeptidase activity  nuclear inner membrane  endoplasmic reticulum membrane  proteolysis  nuclear envelope organization  metalloexopeptidase activity  membrane  integral component of membrane  prenylated protein catabolic process  metal ion binding  extracellular vesicular exosome  CAAX-box protein processing  
Ontology : EGO-EBImetalloendopeptidase activity  nuclear inner membrane  endoplasmic reticulum membrane  proteolysis  nuclear envelope organization  metalloexopeptidase activity  membrane  integral component of membrane  prenylated protein catabolic process  metal ion binding  extracellular vesicular exosome  CAAX-box protein processing  
Pathways : KEGGTerpenoid backbone biosynthesis   
Protein Interaction DatabaseZMPSTE24
DoCM (Curated mutations)ZMPSTE24
Wikipedia pathwaysZMPSTE24
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerZMPSTE24 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZMPSTE24
dbVarZMPSTE24
ClinVarZMPSTE24
1000_GenomesZMPSTE24 
Exome Variant ServerZMPSTE24
SNP (GeneSNP Utah)ZMPSTE24
SNP : HGBaseZMPSTE24
Genetic variants : HAPMAPZMPSTE24
Genomic VariantsZMPSTE24  ZMPSTE24 [DGVbeta]
Mutations
ICGC Data PortalENSG00000084073 
Somatic Mutations in Cancer : COSMICZMPSTE24 
CONAN: Copy Number AnalysisZMPSTE24 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:40723722-40759856
Mutations and Diseases : HGMDZMPSTE24
OMIM275210    606480    608612   
MedgenZMPSTE24
NextProtO75844 [Medical]
GENETestsZMPSTE24
Disease Genetic AssociationZMPSTE24
Huge Navigator ZMPSTE24 [HugePedia]  ZMPSTE24 [HugeCancerGEM]
snp3D : Map Gene to Disease10269
DGIdb (Drug Gene Interaction db)ZMPSTE24
General knowledge
Homologs : HomoloGeneZMPSTE24
Homology/Alignments : Family Browser (UCSC)ZMPSTE24
Phylogenetic Trees/Animal Genes : TreeFamZMPSTE24
Chemical/Protein Interactions : CTD10269
Chemical/Pharm GKB GenePA37466
Clinical trialZMPSTE24
Cancer Resource (Charite)ENSG00000084073
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
CoreMineZMPSTE24
GoPubMedZMPSTE24
iHOPZMPSTE24
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:23:29 CET 2014

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