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Protein

CAAX prenyl protease 1 homolog

Gene

ZMPSTE24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.

Catalytic activityi

The peptide bond hydrolyzed can be designated -C-|-A-A-X in which C is an S-isoprenylated cysteine residue, A is usually aliphatic and X is the C-terminal residue of the substrate protein, and may be any of several amino acids.

Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi335Zinc; catalytic1 Publication1
Active sitei3361 Publication1
Metal bindingi339Zinc; catalytic1 Publication1
Metal bindingi415Zinc; catalytic1 Publication1
Active sitei419Proton donorBy similarity1

GO - Molecular functioni

  • double-stranded DNA binding Source: Ensembl
  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: GO_Central
  • metalloexopeptidase activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.4.24.84 2681

Protein family/group databases

MEROPSiM48.003
TCDBi9.B.1.1.1 the integral membrane caax protease (caax protease) family

Names & Taxonomyi

Protein namesi
Recommended name:
CAAX prenyl protease 1 homolog (EC:3.4.24.84)
Alternative name(s):
Farnesylated proteins-converting enzyme 1
Short name:
FACE-1
Prenyl protein-specific endoprotease 1
Zinc metalloproteinase Ste24 homolog
Gene namesi
Name:ZMPSTE24
Synonyms:FACE1, STE24
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000084073.8
HGNCiHGNC:12877 ZMPSTE24
MIMi606480 gene
neXtProtiNX_O75844

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 18LumenalSequence analysisAdd BLAST18
Transmembranei19 – 39HelicalSequence analysisAdd BLAST21
Topological domaini40 – 81NuclearSequence analysisAdd BLAST42
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 123LumenalSequence analysisAdd BLAST21
Transmembranei124 – 144HelicalSequence analysisAdd BLAST21
Topological domaini145 – 170NuclearSequence analysisAdd BLAST26
Transmembranei171 – 191HelicalSequence analysisAdd BLAST21
Topological domaini192 – 195LumenalSequence analysis4
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Topological domaini217 – 347NuclearSequence analysisAdd BLAST131
Transmembranei348 – 368HelicalSequence analysisAdd BLAST21
Topological domaini369 – 382LumenalSequence analysisAdd BLAST14
Transmembranei383 – 405HelicalSequence analysisAdd BLAST23
Topological domaini406 – 475NuclearSequence analysisAdd BLAST70

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mandibuloacral dysplasia with type B lipodystrophy (MADB)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk.
See also OMIM:608612
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064501248P → L in MADB; found in compound heterozygotes carrying a null allele; does not affect enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121908095EnsemblClinVar.1
Natural variantiVAR_064502265N → S in MADB. 1 PublicationCorresponds to variant dbSNP:rs281875371EnsemblClinVar.1
Natural variantiVAR_019308340W → R in MADB. 1 PublicationCorresponds to variant dbSNP:rs121908093EnsemblClinVar.1
Lethal tight skin contracture syndrome (LTSCS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
See also OMIM:275210

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10269
MalaCardsiZMPSTE24
MIMi275210 phenotype
608612 phenotype
OpenTargetsiENSG00000084073
Orphaneti740 Hutchinson-Gilford progeria syndrome
90154 Mandibuloacral dysplasia with type B lipodystrophy
1662 Restrictive dermopathy
PharmGKBiPA37466

Chemistry databases

ChEMBLiCHEMBL3739253

Polymorphism and mutation databases

BioMutaiZMPSTE24

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001388441 – 475CAAX prenyl protease 1 homologAdd BLAST475

Proteomic databases

EPDiO75844
MaxQBiO75844
PaxDbiO75844
PeptideAtlasiO75844
PRIDEiO75844
ProteomicsDBi50226

PTM databases

iPTMnetiO75844
PhosphoSitePlusiO75844
SwissPalmiO75844

Expressioni

Tissue specificityi

Widely expressed. High levels in kidney, prostate, testis and ovary.

Gene expression databases

BgeeiENSG00000084073 Expressed in 236 organ(s), highest expression level in testis
CleanExiHS_ZMPSTE24
GenevisibleiO75844 HS

Organism-specific databases

HPAiHPA006988

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi115560, 45 interactors
DIPiDIP-39641N
IntActiO75844, 10 interactors
STRINGi9606.ENSP00000361845

Structurei

Secondary structure

1475
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75844
SMRiO75844
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The metalloprotease domain is constituted by the two C-terminal nuclear regions.

Sequence similaritiesi

Belongs to the peptidase M48A family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2719 Eukaryota
COG0501 LUCA
GeneTreeiENSGT00390000002053
HOGENOMiHOG000257874
HOVERGENiHBG051541
InParanoidiO75844
KOiK06013
OMAiRFEYQAD
OrthoDBiEOG091G074G
PhylomeDBiO75844
TreeFamiTF105972

Family and domain databases

CDDicd07343 M48A_Zmpste24p_like, 1 hit
InterProiView protein in InterPro
IPR027057 CAXX_Prtase_1
IPR001915 Peptidase_M48
IPR032456 Peptidase_M48_N
PANTHERiPTHR10120 PTHR10120, 1 hit
PfamiView protein in Pfam
PF01435 Peptidase_M48, 1 hit
PF16491 Peptidase_M48_N, 1 hit

Sequencei

Sequence statusi: Complete.

O75844-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGMWASLDAL WEMPAEKRIF GAVLLFSWTV YLWETFLAQR QRRIYKTTTH
60 70 80 90 100
VPPELGQIMD SETFEKSRLY QLDKSTFSFW SGLYSETEGT LILLFGGIPY
110 120 130 140 150
LWRLSGRFCG YAGFGPEYEI TQSLVFLLLA TLFSALTGLP WSLYNTFVIE
160 170 180 190 200
EKHGFNQQTL GFFMKDAIKK FVVTQCILLP VSSLLLYIIK IGGDYFFIYA
210 220 230 240 250
WLFTLVVSLV LVTIYADYIA PLFDKFTPLP EGKLKEEIEV MAKSIDFPLT
260 270 280 290 300
KVYVVEGSKR SSHSNAYFYG FFKNKRIVLF DTLLEEYSVL NKDIQEDSGM
310 320 330 340 350
EPRNEEEGNS EEIKAKVKNK KQGCKNEEVL AVLGHELGHW KLGHTVKNII
360 370 380 390 400
ISQMNSFLCF FLFAVLIGRK ELFAAFGFYD SQPTLIGLLI IFQFIFSPYN
410 420 430 440 450
EVLSFCLTVL SRRFEFQADA FAKKLGKAKD LYSALIKLNK DNLGFPVSDW
460 470
LFSMWHYSHP PLLERLQALK TMKQH
Length:475
Mass (Da):54,813
Last modified:April 27, 2001 - v2
Checksum:i6C49179DEB0C8F7F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16E → K in BAA33727 (PubMed:10076063).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034711137T → A1 PublicationCorresponds to variant dbSNP:rs17853725Ensembl.1
Natural variantiVAR_064501248P → L in MADB; found in compound heterozygotes carrying a null allele; does not affect enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs121908095EnsemblClinVar.1
Natural variantiVAR_064502265N → S in MADB. 1 PublicationCorresponds to variant dbSNP:rs281875371EnsemblClinVar.1
Natural variantiVAR_019308340W → R in MADB. 1 PublicationCorresponds to variant dbSNP:rs121908093EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB016068 mRNA Translation: BAA33727.1
AF064867 mRNA Translation: AAC68866.1
Y13834 mRNA Translation: CAB46277.1
AK075007 mRNA Translation: BAG52049.1
AL050341 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07233.1
CH471059 Genomic DNA Translation: EAX07234.1
BC037283 mRNA Translation: AAH37283.1
CCDSiCCDS449.1
RefSeqiNP_005848.2, NM_005857.4
UniGeneiHs.132642
Hs.721062

Genome annotation databases

EnsembliENST00000372759; ENSP00000361845; ENSG00000084073
GeneIDi10269
KEGGihsa:10269
UCSCiuc001cfg.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB016068 mRNA Translation: BAA33727.1
AF064867 mRNA Translation: AAC68866.1
Y13834 mRNA Translation: CAB46277.1
AK075007 mRNA Translation: BAG52049.1
AL050341 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07233.1
CH471059 Genomic DNA Translation: EAX07234.1
BC037283 mRNA Translation: AAH37283.1
CCDSiCCDS449.1
RefSeqiNP_005848.2, NM_005857.4
UniGeneiHs.132642
Hs.721062

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YPTX-ray3.80A/B/D/E1-475[»]
4AW6X-ray3.40A/B/D/E1-475[»]
5SYTX-ray2.00A1-474[»]
6BH8X-ray3.85A/B1-475[»]
ProteinModelPortaliO75844
SMRiO75844
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115560, 45 interactors
DIPiDIP-39641N
IntActiO75844, 10 interactors
STRINGi9606.ENSP00000361845

Chemistry databases

ChEMBLiCHEMBL3739253

Protein family/group databases

MEROPSiM48.003
TCDBi9.B.1.1.1 the integral membrane caax protease (caax protease) family

PTM databases

iPTMnetiO75844
PhosphoSitePlusiO75844
SwissPalmiO75844

Polymorphism and mutation databases

BioMutaiZMPSTE24

Proteomic databases

EPDiO75844
MaxQBiO75844
PaxDbiO75844
PeptideAtlasiO75844
PRIDEiO75844
ProteomicsDBi50226

Protocols and materials databases

DNASUi10269
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372759; ENSP00000361845; ENSG00000084073
GeneIDi10269
KEGGihsa:10269
UCSCiuc001cfg.5 human

Organism-specific databases

CTDi10269
DisGeNETi10269
EuPathDBiHostDB:ENSG00000084073.8
GeneCardsiZMPSTE24
HGNCiHGNC:12877 ZMPSTE24
HPAiHPA006988
MalaCardsiZMPSTE24
MIMi275210 phenotype
606480 gene
608612 phenotype
neXtProtiNX_O75844
OpenTargetsiENSG00000084073
Orphaneti740 Hutchinson-Gilford progeria syndrome
90154 Mandibuloacral dysplasia with type B lipodystrophy
1662 Restrictive dermopathy
PharmGKBiPA37466
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2719 Eukaryota
COG0501 LUCA
GeneTreeiENSGT00390000002053
HOGENOMiHOG000257874
HOVERGENiHBG051541
InParanoidiO75844
KOiK06013
OMAiRFEYQAD
OrthoDBiEOG091G074G
PhylomeDBiO75844
TreeFamiTF105972

Enzyme and pathway databases

BRENDAi3.4.24.84 2681

Miscellaneous databases

ChiTaRSiZMPSTE24 human
GenomeRNAii10269
PROiPR:O75844
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000084073 Expressed in 236 organ(s), highest expression level in testis
CleanExiHS_ZMPSTE24
GenevisibleiO75844 HS

Family and domain databases

CDDicd07343 M48A_Zmpste24p_like, 1 hit
InterProiView protein in InterPro
IPR027057 CAXX_Prtase_1
IPR001915 Peptidase_M48
IPR032456 Peptidase_M48_N
PANTHERiPTHR10120 PTHR10120, 1 hit
PfamiView protein in Pfam
PF01435 Peptidase_M48, 1 hit
PF16491 Peptidase_M48_N, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFACE1_HUMAN
AccessioniPrimary (citable) accession number: O75844
Secondary accession number(s): B3KQI7
, D3DPU7, Q8NDZ8, Q9UBQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: April 27, 2001
Last modified: November 7, 2018
This is version 177 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Peptidase families
    Classification of peptidase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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