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Protein

CAAX prenyl protease 1 homolog

Gene

ZMPSTE24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Active sitei3361 Publication1
Metal bindingi339Zinc; catalytic1
Metal bindingi415Zinc; catalytic1
Active sitei419Proton donorBy similarity1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: GO_Central
  • metalloexopeptidase activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000084073-MONOMER.
ZFISH:G66-33961-MONOMER.
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

HGNCiHGNC:12877. ZMPSTE24.

Subcellular locationi

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

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: GO_Central
  • membrane Source: UniProtKB
  • nuclear inner membrane Source: UniProtKB-SubCell
Complete GO annotation...

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 rs121908095dbSNPEnsembl.1
Natural variantiVAR_064502265N → S in MADB. 1 PublicationCorresponds to variant rs281875371dbSNPEnsembl.1
Natural variantiVAR_019308340W → R in MADB. 1 PublicationCorresponds to variant rs121908093dbSNPEnsembl.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.
1662. Lethal restrictive dermopathy.
90154. Mandibuloacral dysplasia with type B lipodystrophy.
PharmGKBiPA37466.

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.

PTM databases

iPTMnetiO75844.
PhosphoSitePlusiO75844.
SwissPalmiO75844.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000084073.
CleanExiHS_ZMPSTE24.
GenevisibleiO75844. HS.

Organism-specific databases

HPAiHPA006988.

Interactioni

Protein-protein interaction databases

BioGridi115560. 42 interactors.
DIPiDIP-39641N.
IntActiO75844. 5 interactors.
STRINGi9606.ENSP00000361845.

Structurei

Secondary structure

1475
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi11 – 13Combined sources3
Helixi16 – 47Combined sources32
Helixi54 – 56Combined sources3
Helixi61 – 95Combined sources35
Helixi97 – 104Combined sources8
Helixi117 – 147Combined sources31
Helixi149 – 152Combined sources4
Helixi160 – 191Combined sources32
Helixi196 – 215Combined sources20
Turni216 – 219Combined sources4
Helixi220 – 223Combined sources4
Beta strandi226 – 228Combined sources3
Helixi233 – 244Combined sources12
Beta strandi249 – 255Combined sources7
Helixi257 – 259Combined sources3
Beta strandi266 – 273Combined sources8
Beta strandi275 – 280Combined sources6
Helixi281 – 284Combined sources4
Helixi326 – 341Combined sources16
Helixi344 – 366Combined sources23
Helixi371 – 375Combined sources5
Helixi384 – 393Combined sources10
Helixi397 – 424Combined sources28
Turni425 – 427Combined sources3
Helixi428 – 441Combined sources14
Helixi450 – 455Combined sources6
Helixi462 – 471Combined sources10

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[»]
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.
OMAiAMVGTKL.
OrthoDBiEOG091G074G.
PhylomeDBiO75844.
TreeFamiTF105972.

Family and domain databases

InterProiIPR027057. CAXX_Prtase_1.
IPR001915. Peptidase_M48.
IPR032456. Peptidase_M48_N.
[Graphical view]
PANTHERiPTHR10120:SF24. PTHR10120:SF24. 2 hits.
PfamiPF01435. Peptidase_M48. 1 hit.
PF16491. Peptidase_M48_N. 1 hit.
[Graphical view]

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 → A.1 PublicationCorresponds to variant rs17853725dbSNPEnsembl.1
Natural variantiVAR_064501248P → L in MADB; found in compound heterozygotes carrying a null allele; does not affect enzyme activity. 2 PublicationsCorresponds to variant rs121908095dbSNPEnsembl.1
Natural variantiVAR_064502265N → S in MADB. 1 PublicationCorresponds to variant rs281875371dbSNPEnsembl.1
Natural variantiVAR_019308340W → R in MADB. 1 PublicationCorresponds to variant rs121908093dbSNPEnsembl.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. Translation: CAB81610.1.
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

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. Translation: CAB81610.1.
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[»]
ProteinModelPortaliO75844.
SMRiO75844.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115560. 42 interactors.
DIPiDIP-39641N.
IntActiO75844. 5 interactors.
STRINGi9606.ENSP00000361845.

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.

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

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000084073-MONOMER.
ZFISH:G66-33961-MONOMER.
BRENDAi3.4.24.84. 2681.

Miscellaneous databases

GenomeRNAii10269.
PROiO75844.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000084073.
CleanExiHS_ZMPSTE24.
GenevisibleiO75844. HS.

Family and domain databases

InterProiIPR027057. CAXX_Prtase_1.
IPR001915. Peptidase_M48.
IPR032456. Peptidase_M48_N.
[Graphical view]
PANTHERiPTHR10120:SF24. PTHR10120:SF24. 2 hits.
PfamiPF01435. Peptidase_M48. 1 hit.
PF16491. Peptidase_M48_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFACE1_HUMAN
AccessioniPrimary (citable) accession number: O75844
Secondary accession number(s): B3KQI7
, D3DPU7, Q8NDZ8, Q9UBQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: April 27, 2001
Last modified: November 30, 2016
This is version 160 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.