Entity Details

Primary name FACE1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75844
EntryNameFACE1_HUMAN
FullNameCAAX prenyl protease 1 homolog
TaxID9606
Evidenceevidence at protein level
Length475
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesZMPSTE24

GO terms

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GOName
GO:0001889 liver development
GO:0001942 hair follicle development
GO:0003007 heart morphogenesis
GO:0003229 ventricular cardiac muscle tissue development
GO:0003231 cardiac ventricle development
GO:0003417 growth plate cartilage development
GO:0003690 double-stranded DNA binding
GO:0004222 metalloendopeptidase activity
GO:0005637 nuclear inner membrane
GO:0006281 DNA repair
GO:0006508 proteolysis
GO:0006925 inflammatory cell apoptotic process
GO:0006998 nuclear envelope organization
GO:0007628 adult walking behavior
GO:0008235 metalloexopeptidase activity
GO:0008340 determination of adult lifespan
GO:0008360 regulation of cell shape
GO:0010506 regulation of autophagy
GO:0010906 regulation of glucose metabolic process
GO:0016020 membrane
GO:0019216 regulation of lipid metabolic process
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030282 bone mineralization
GO:0030327 prenylated protein catabolic process
GO:0030500 regulation of bone mineralization
GO:0032006 regulation of TOR signaling
GO:0032350 regulation of hormone metabolic process
GO:0032991 protein-containing complex
GO:0035264 multicellular organism growth
GO:0040014 regulation of multicellular organism growth
GO:0043007 maintenance of rDNA
GO:0043516 regulation of DNA damage response, signal transduction by p53 class mediator
GO:0043979 histone H2B-K5 acetylation
GO:0044029 hypomethylation of CpG island
GO:0044255 cellular lipid metabolic process
GO:0046872 metal ion binding
GO:0048145 regulation of fibroblast proliferation
GO:0048538 thymus development
GO:0050688 regulation of defense response to virus
GO:0050905 neuromuscular process
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060993 kidney morphogenesis
GO:0061337 cardiac conduction
GO:0061762 CAMKK-AMPK signaling cascade
GO:0070062 extracellular exosome
GO:0070302 regulation of stress-activated protein kinase signaling cascade
GO:0071480 cellular response to gamma radiation
GO:0071586 CAAX-box protein processing
GO:0072423 response to DNA damage checkpoint signaling
GO:1903025 regulation of RNA polymerase II regulatory region sequence-specific DNA binding
GO:1903463 regulation of mitotic cell cycle DNA replication
GO:1903799 negative regulation of production of miRNAs involved in gene silencing by miRNA
GO:1990036 calcium ion import into sarcoplasmic reticulum
GO:1990164 histone H2A phosphorylation
GO:2000618 regulation of histone H4-K16 acetylation
GO:2000730 regulation of termination of RNA polymerase I transcription
GO:2000772 regulation of cellular senescence

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Nucleus inner membrane

Domains

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DomainNameCategoryType
IPR001915 Peptidase M48DomainDomain
IPR027057 CAAX prenyl protease 1FamilyFamily
IPR032456 CAAX prenyl protease 1, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
275210 OMIMLethal tight skin contracture syndrome (LTSCS)Rare 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. The disease is caused by variants affecting the gene represented in this entry.
608612 OMIMMandibuloacral dysplasia with type B lipodystrophy (MADB)A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease 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. The disease is caused by variants affecting the gene represented in this entry.