ZMPSTE24 Gene
protein-coding GIFtS: 61
GCID: GC01P040723
|
|
zinc metallopeptidase STE24(Previous names: zinc metalloproteinase (STE24 homolog, yeast), zinc metallopeptidase...)
| |
Aliases
for ZMPSTE24 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Zinc Metallopeptidase STE241 2 | | Zinc Metalloproteinase Ste24 Homolog2 3 | | STE241 2 3 5 | | Zinc Metallopeptidase (STE24 Homolog, Yeast)1 | | FACE-11 2 3 | | Zinc Metallopeptidase STE24 Homolog (S. Cerevisiae)1 | | FACE12 3 5 | | Zinc Metalloproteinase (STE24 Homolog, Yeast)1 | | HGPS1 2 | | CAAX Prenyl Protease 1 Homolog2 | | PRO11 2 | | Zinc Metallopeptidase STE24 Homolog2 | | Ste24p1 2 | | EC 3.4.24.843 | | Farnesylated Proteins-Converting Enzyme 12 3 | | MADB5 | | Prenyl Protein-Specific Endoprotease 12 3 | | |
Export aliases for ZMPSTE24 gene to outside databasesPrevious GC identifers: GC01P040758 GC01P039727 GC01P040187 GC01P040137 GC01P040392 GC01P040496 GC01P038842 |
Summaries
for ZMPSTE24 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ZMPSTE24:
This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved inthe two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to formmature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844Function: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C
|
Genomic Views
for ZMPSTE24 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ZMPSTE24 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B2 oct-B3 CUTL1 POU2F2 POU2F2C Nkx6-1 POU2F1 POU2F1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for ZMPSTE24
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZMPSTE24 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p34.2 HGNC cytogenetic band: 1p34ZMPSTE24 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P040723: view genomic region
(about GC identifiers)
Start:
|
40,723,733 bp from pter |
End:
|
40,759,856 bp from pter |
Size:
|
36,124 bases |
Orientation:
|
plus strand |
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Proteins
for ZMPSTE24 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844 (See
protein sequence)Recommended Name: CAAX prenyl protease 1 homolog Size: 475 amino acids; 54813 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-passmembrane protein (Probable)
2 PDB 3D structures from  and Proteopedia  for ZMPSTE24:2YPT (3D)
4AW6 (3D)
Secondary accessions: B3KQI7 D3DPU7 Q8NDZ8 Q9UBQ2Explore the universe of human proteins at neXtProt for ZMPSTE24: NX_O75844
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O75844
ZMPSTE24 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005848.2
ENSEMBL proteins: ENSP00000361845
Human Recombinant Protein Products for ZMPSTE24:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ZMPSTE24 for ontologies About GeneDecksing
ZMPSTE24 Antibody Products:
Assay Products for ZMPSTE24: |
Protein
Domains /
Families
for ZMPSTE24 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ZMPSTE24 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O75844ProtoNet protein and cluster: O75844 UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844Similarity: Belongs to the peptidase M48A family |
Function
for ZMPSTE24 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: FACE1_HUMAN, O75844Function: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/CCatalytic activity: The peptide bond hydrolyzed can be designated -C- -A-A-X in which C is an S-isoprenylated cysteineresidue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of severalamino acids Genatlas biochemistry entry for ZMPSTE24:farnesylated protein converting enzyme 1,gluxinein subfamily of metalloproteinase ubiquitously expressed,CAAX prenylprotease S cerevisiae Ste24p homolog,catalyzing the first step of the proteolytic processing of farnesylatedproteins,including Ras,also involved in NH2 terminal processing
Enzyme Number (IUBMB): EC 3.4.24.841
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ZMPSTE24 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for ZMPSTE24:
15/16 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Zmpste24) (see all 16):
ZMPSTE24 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Zmpste24tm1Sgy for ZMPSTE24
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ZMPSTE24 (NM_005857) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ZMPSTE24 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZMPSTE24 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMPSTE24 |
|
Pathways & Interactions
for ZMPSTE24 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Adipogenesis | |
1  BioSystems Pathway for ZMPSTE24
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ZMPSTE24
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/94 Interacting proteins for ZMPSTE24 (O758443 ENSP000003618454) via UniProtKB, MINT, STRING, and/or I2D (see all 94)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
ZMPSTE24 for ontologies About GeneDecksing
|
Drugs & Compounds
for ZMPSTE24 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ZMPSTE24 for compounds About GeneDecksing
 Browse Tocris compounds for ZMPSTE24
9 Novoseek chemical compound relationships for ZMPSTE24 gene About this table
Search CenterWatch for drugs/clinical trials and news about ZMPSTE24 / FACE1
|
Transcripts
for ZMPSTE24 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ZMPSTE24 gene: NM_005857.4 Unigene Cluster for ZMPSTE24: Zinc metallopeptidase STE24 Hs.132642 [show with all ESTs]Unigene Representative Sequence: NM_0058574 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000372759(uc001cfg.3) ENST00000479131 ENST00000472583 ENST00000474142
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ZMPSTE24 (NM_005857) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ZMPSTE24 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZMPSTE24 |
Additional cDNA sequence: AB016068.1 AF064867.1 AK027874.1 AK074784.1 AK075007.1 BC037283.1 Y13834.1 5 DOTS entries: DT.417785 DT.100786033 DT.121377024 DT.121377035 DT.99985361 24/203 AceView cDNA sequences (see all 203): AI003768 BG260166 CB131873 AK075007 AW467710 AW192807 BX483123 CD657740 CB134074 BG740992 AA304432 AA876370 AA450140 BU678364 AW024784 AI478700 BM473300 AK074784 BF916028 W32176 NM_005857 C03705 T35312 AI918542
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ZMPSTE24 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|
|
| SP1: | | | | | | | - | | | | - | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | | | | | | | - | | | | - | | | | | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ZMPSTE24
|
Expression
for ZMPSTE24 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ZMPSTE24 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTGATAAC
About this image
See ZMPSTE24 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZMPSTE24
SOURCE GeneReport for Unigene cluster: Hs.132642
UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844Tissue specificity: Widely expressed. High levels in kidney, prostate, testis and ovary
SABiosciences Custom PCR Arrays for ZMPSTE24
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZMPSTE24
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ZMPSTE24 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZMPSTE24 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZMPSTE24 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMPSTE24 |
Orthologs
for ZMPSTE24 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ZMPSTE24 gene from 10/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Zmpste241 , 5 |
zinc metallopeptidase, STE24 homolog (S. cerevisiae)1, 5 |
90.08(n)1
93.67(a)1 |
|
4 (56.80 cM)5
2307091 NM_172700.21 NP_766288.11
1210592375 |
chicken
(Gallus gallus) |
Aves |
ZMPSTE241 |
zinc metallopeptidase (STE24 homolog, S. cerevisiae) |
80.82(n)
90.15(a) |
|
419572 XM_417720.2 XP_417720.1 |
lizard
(Anolis carolinensis) |
Reptilia |
ZMPSTE246 |
-- |
86(a) |
1 ↔ 1 |
GL343276.1(1792200-1803471) |
African clawed frog
(Xenopus laevis) |
Amphibia |
CA985678.12 |
-- |
78.72(n) |
|
CA985678.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufi45a022 |
wufi45a02 |
76.44(n) |
|
334380 BC046884.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG90003
ste24a1 |
prenyl-dependent CAAX protease3
prenyl protease type I1 |
49(a)
(best of 4)3
54.32(n)1
52.02(a)1 |
|
53E43
369081 NM_137331.21 NP_611175.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C04F12.103
fce-11 |
Zinc-binding metalloprotease domain3
Protein FCE-11 |
41(a)3
51.71(n)1
43.72(a)1 |
|
I(9719261-9720772)3
1728201 NM_060181.31 NP_492582.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
STE24(YJR117W)4
STE241 |
Highly conserved zinc metalloprotease that functions more4
Ste24p1 |
49.05(n)1
40.74(a)1 |
|
10(642007-643368)4
8535811, 4 NP_012651.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ATSTE241 |
CAAX prenyl protease 1-like protein |
53.64(n)
50.61(a) |
|
828209 NM_116362.2 NP_567212.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.134752 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
76.47(n) |
|
AK060498.1 |
ENSEMBL Gene Tree for ZMPSTE24 (if available)
TreeFam Gene Tree for ZMPSTE24 (if available) |
Paralogs
for ZMPSTE24 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ZMPSTE24 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ZMPSTE24 (40723733 - 40759856 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ZMPSTE24
1 CNV: 4219
Human Gene Mutation Database (HGMD): ZMPSTE24
Locus Specific Mutation Databases (LSDB): ZMPSTE24
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZMPSTE24 |
|
Disorders
/ Diseases
for ZMPSTE24 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ZMPSTE24 for disorders About GeneDecksing
OMIM gene information: 606480
OMIM disorders: 608612 275210
UniProtKB/Swiss-Prot: FACE1_HUMAN, O75844
Defects in ZMPSTE24 are the cause of mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612].Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicularhypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and types A or B patterns oflipodystrophy. Type B lipodystrophy observed in MADB, is characterized by generalized fat loss Defects in ZMPSTE24 are a cause of lethal tight skin contracture syndrome (LTSCS) [MIM:275210]; also calledrestrictive dermopathy (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized byintrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermalhyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes andeyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple jointcontractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. Theoverall prevalence of consanguineous cases suggested an autosomal recessive inheritance
20  diseases for ZMPSTE24: About MalaCardsrestrictive dermopathy mandibuloacral dysplasia mandibuloacral dysplasia with type b lipodystrophy focal segmental glomerulosclerosis
lipodystrophy reynolds syndrome progeria arthropathy
botulism glomerulosclerosis calcinosis alzheimer's disease
pulmonary tuberculosis amyloidosis tuberculosis asthma
cholesterol prostatitis adenocarcinoma neuronitis
2 diseases from the University of Copenhagen DISEASES database for ZMPSTE24:Progeria Lipodystrophy 10 Novoseek disease relationships for ZMPSTE24 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mandibuloacral dysplasia |
93.1 |
10 |
16364671 (1), 16278265 (1), 17152860 (1), 12913070 (1) (see all 6) |
| progeria |
90.7 |
6 |
15479179 (1), 16207929 (1), 20458013 (1), 16671095 (1) (see all 6) |
| acroosteolysis |
88.1 |
1 |
16278265 (1) |
| lipodystrophy, congenital generalized |
75.3 |
2 |
12913070 (1) |
| lipodystrophy |
73 |
9 |
16409151 (1), 17320032 (1), 18230615 (1), 15998779 (1) |
| alzheimers disease |
10.3 |
1 |
16233955 (1) |
| growth retardation |
9.02 |
1 |
11923874 (1) |
| arthropathy |
8.23 |
1 |
16278265 (1) |
| necrosis |
0 |
1 |
10849764 (1) |
| tumors |
0 |
4 |
7591296 (1), 12954328 (1), 19329328 (1), 18081311 (1) |
Human Genome Epidemiology (HuGE) Navigator: ZMPSTE24 (6 documents)
Export disorders for ZMPSTE24 gene to outside databases
|
Publications
for ZMPSTE24 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ZMPSTE24 gene, integrated from 9 sources (see all 145):
(articles sorted by number of sources associating them with ZMPSTE24) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Dual roles for Ste24p in yeast a-factor maturation: NH2-terminal proteolysis and COOH-terminal CAAX processing. (PubMed id 9700155)1, 2, 3, 9 Tam A....Michaelis S. (1998)
- Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins. (PubMed id 10373325)1, 2, 3, 9 Freije J.M.P....Lopez-Otin C. (1999)
- Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (PubMed id 12913070)1, 2, 9 Agarwal A.K.... Garg A. (2003)
- Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (PubMed id 17152860)1, 2, 9 Agarwal A.K....Garg A. (2006)
- Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. (PubMed id 15317753)1, 2, 9 Navarro C.L.... Levy N. (2004)
- Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (PubMed id 18435794)1, 2, 9 Miyoshi Y....Ozono K. (2008)
- A homozygous ZMPSTE24 null mutation in combination wi th a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. (PubMed id 16671095)1, 3, 9 Denecke J....Marquardt T. (2006)
- Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (PubMed id 20814950)1, 2 Ahmad Z.... Garg A. (2010)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
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External Searches for ZMPSTE24 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ZMPSTE24 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ZMPSTE24 gene
(According to HUGE)
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Specialized Databases showing ZMPSTE24 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for ZMPSTE24 gene:
Search GeneIP for patents involving ZMPSTE24
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ZMPSTE24 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | OriGene Antibodies for ZMPSTE24 | | OriGene shRNA RFP for ZMPSTE24 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ZMPSTE24 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ZMPSTE24 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ZMPSTE24 | | OriGene 3'-UTR Clone for ZMPSTE24 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ZMPSTE24 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ZMPSTE24 | | OriGene Custom Protein Services for ZMPSTE24 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ZMPSTE24 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZMPSTE24 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZMPSTE24 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ZMPSTE24 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZMPSTE24 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZMPSTE24 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZMPSTE24 |
|  |  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZMPSTE24 |
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