ZMPSTE24 - zinc metallopeptidase STE24 Gene

Also Known as HGPS; PRO1; FACE1; RSDM1; STE24; FACE-1; Ste24p

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10269

About ZMPSTE24

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,258,236-40,294,180 (from NCBI)

This gene has 7 transcripts (splice variants), 208 orthologues and is associated with 6 phenotypes. Ubiquitous expression in kidney (RPKM 22.0), gall bladder (RPKM 20.0) and 25 other tissues.

Summary

This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]

ZMPSTE24 Products (1)

mRNA	Protein	Name
NM_005857.5	NP_005848.2	CAAX prenyl protease 1 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	33293369	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23539603	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein maturation	IDA IDA: Inferred from direct assay	33293369	GOA
acts upstream of or within regulation of defense response to virus	IDA IDA: Inferred from direct assay	28246125	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	28246125	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZMPSTE24 Protein Structure

Peptidase_M48

0
100
200
300
400
475 a.a.

Protein Preferred Names	Protein Names
CAAX prenyl protease 1 homolog	farnesylated proteins-converting enzyme 1

ZMPSTE24 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ZMPSTE24	O75844	LMNA	Homo sapiens	P02545-1	X-Ray Diffraction	23539603
Intra	ZMPSTE24	O75844	LMNA	Homo sapiens	P02545-1	Protease Assay	23539603

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mandibuloacral Dysplasia With Type B Lipodystrophy	MADB Lipodystrophy, Type B, Associated With Mandibuloacral Dysplasia Mandibuloacral Dysplasia Type B Lipodystrophy Lipodystrophy Type B Associated With Mandibuloacral Dysplasia Dysplasia, Mandibuloacral, With Type B Lipodystrophy
Restrictive Dermopathy 1	Lethal Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Hyperkeratosis-Contracture Syndrome Fetal Hypokinesia Sequence Due To Restrictive Dermopathy RSDM1 Restrictive Dermopathy 1, Lethal Restrictive Dermopathy, Lethal Restrictive Dermopathy Lethal Hyperkeratosis-Contracture Syndrome Lethal Restrictive Dermopathy Lethal Tight Skin-Contracture Syndrome Dermopathy, Restrictive
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Acroosteolysis	Acro-Osteolysis
Lethal Restrictive Dermopathy	Hyperkeratosis-Contracture Syndrome Tight Skin Contracture Syndrome Tight Skin Contracture Syndrome, Lethal Dermopathy, Restrictive, Lethal
Mandibuloacral Dysplasia With Type A Lipodystrophy	Mandibuloacral Dysplasia MADA Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia Craniomandibular Dermatodysostosis Mad Mandibuloacral Dysostosis Mandibuloacral Dysplasia Type A Lipodystrophy Lipodystrophy Type A Associated With Mandibuloacral Dysplasia Mandibuloacral Dysplasia With Type A Lipodystrophy Atypical Tendinous Calcinosis Arthropathy And Progeroid Features Mandibuloacral Dysplasia With Type A Lipodystrophy, Atypical Dysplasia, Mandibuloacral Dysplasia, Mandibuloacral, With Type A Lipodystrophy
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Cowpox	Yaba
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Malouf Syndrome Najjar Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Cardiogenital Syndrome Genital Anomaly With Cardiomyopathy Cardiomyopathy With Primary Testicular Failure Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, With Premature Ovarian Failure Cardiomyopathy Eith Primary Testicular Failure Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism Dilated Cardiomyopathy With Premature Ovarian Failure CMDHH Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism Cardiomyopathy Dilated With Premature Ovarian Failure
Charcot-Marie-Tooth Disease, Axonal, Type 2b1	Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease, Type 2b1 CMT2B1 Autosomal Recessive Axonal Cmt4c1 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Neuronal Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 Charcot-Marie-Tooth Neuropathy, Type 2b1 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 Ar-Cmt2b1 Charcot-Marie-Tooth Disease 2b1 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 Charcot-Marie-Tooth Disease Axonal Type 2b1
Reynolds Syndrome	Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia Primary Biliary Cirrhosis And Systemic Scleroderma REYNS Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Lipodystrophy, Familial Partial, Type 1	FPLD1 Familial Partial Lipodystrophy Type 1 Familial Partial Lipodystrophy, Kobberling Type Lipodystrophy, Familial Partial, Kobberling Type Familial Partial Lipodystrophy Kobberling Type Familial Partial Lipodystrophy Type Köbberling Familial Partial Lipodystrophy, Köbberling Type Familial Partial Lipodystrophy, Type 1
Hallermann-Streiff Syndrome	Francois Dyscephalic Syndrome HSS Hallermann'S Syndrome Oculomandibulofacial Syndrome Hallerman - Streiff Syndrome François Dyscephalic Syndrome Hallermann Streiff Francois Syndrome Hallermann Streiff Syndrome
Calcinosis	Pathologic Calcification Pathologically Calcified Structure
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	EDMD3 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	EDMD2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Emd2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Scapuloilioperoneal Atrophy With Cardiopathy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Hauptmann-Thannhauser Muscular Dystrophy Cardiomyopathy, Dilated, With Quadriceps Myopathy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2 Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly Lgmd1b, Formerly Muscular Dystrophy, Proximal, Type 1b, Formerly Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Lgmd1b Limb-Girdle Muscular Dystrophy 1b Muscular Dystrophy, Proximal, Type 1b Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	ADLD Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy Leukodystrophy, Adult-Onset, Autosomal Dominant Adult-Onset Autosomal Dominant Leukodystrophy Autosomal Dominant Leukodystrophy With Autonomic Disease Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy Multiple Sclerosis-Like Disorder Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset Pelizaeus-Merzbacher Disease Autosomal Dominant Pelizaeus-Merzbacher Disease Late-Onset Type Adult Onset Autosomal Dominant Leukodystrophy
Acquired Generalized Lipodystrophy	Lawrence Syndrome Acquired Lipoatrophic Diabetes Lawrence-Seip Syndrome Familial Generalized Lipodystrophy
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Skin Atrophy	Atrophic Condition Of Skin Atrophoderma Atrophy - Skin
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	EDMD1 Emd1 Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures X-Linked Emery-Dreifuss Muscular Dystrophy 1 Humeroperoneal Neuromuscular Disease X-Linked Emery-Dreifuss Muscular Dystrophy Scapuloperoneal Syndrome, X-Linked, Formerly Humeroperoneal Neuromuscular Disease, Formerly Scapuloperoneal Syndrome, X-Linked Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures Scapuloperoneal Syndrome X-Linked X-Edmd Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
Complete Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 3	FPLD3 Pparg-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 3 Familial Partial Lipodystrophy Associated With Pparg Mutations Pparg-Related Fpld Lipodystrophy, Familial Partial, Associated With Pparg Mutations Insulin Resistance, Severe, Digenic Lipodystrophy, Familial Partial, 3 Familial Partial Lipodystrophy, Type 3
Lipodystrophy, Familial Partial, Type 6	FPLD6 Lipe-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 6 Lipe-Related Fpld Lipodystrophy, Familial Partial, Associated With Lipe Mutations Familial Partial Lipodystrophy Associated With Lipe Mutations Lipodystrophy, Familial Partial, 6
Greenberg Dysplasia	Hem Dysplasia Greenberg Skeletal Dysplasia Hem Skeletal Dysplasia GRBGD Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia Moth-Eaten Skeletal Dysplasia Chondrodystrophy, Hydropic And Prenatally Lethal Type Hydrops-Ectopic Calcification-Motheaten Syndrome Skeletal Dysplasia, Greenberg Type Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia Hem Hem/Greenberg Dysplasia Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16088	ZMPSTE24 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ZMPSTE24	VGNC	VGNC:37197
Canis familiaris	ZMPSTE24	VGNC	VGNC:48644
Mus musculus	ZMPSTE24	MGD	MGI:1890508
Rattus norvegicus	ZMPSTE24	RGD	RGD:1305570
Felis catus	ZMPSTE24	VGNC	VGNC:67257
Macaca mulatta	ZMPSTE24	VGNC	VGNC:78830
Others	ZMPSTE24	NCBI