InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZMPSTE24

Summary

InnateDB Protein

IDBP-96897.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZMPSTE24

Protein Name

zinc metallopeptidase (STE24 homolog, S. cerevisiae)

Synonyms

FACE-1; FACE1; HGPS; PRO1; STE24; Ste24p;

Species

Homo sapiens

Ensembl Protein

ENSP00000361845

InnateDB Gene

IDBG-96895 (ZMPSTE24)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:23539603}; Multi-pass membrane protein {ECO:0000269PubMed:23539603}. Nucleus inner membrane {ECO:0000269PubMed:23539603}; Multi-pass membrane protein {ECO:0000269PubMed:23539603}.

Disease Associations

Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]: A 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. {ECO:0000269PubMed:12913070, ECO:0000269PubMed:17152860, ECO:0000269PubMed:18435794, ECO:0000269PubMed:20814950}. Note=The disease is caused by mutations affecting the gene represented in this entry.Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: 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. {ECO:0000269PubMed:15317753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	21 [view]
Protein-DNA	3 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0008235	metalloexopeptidase activity
GO:0046872	metal ion binding

Biological Process

GO:0006508	proteolysis
GO:0006998	nuclear envelope organization
GO:0030327	prenylated protein catabolic process
GO:0071586	CAAX-box protein processing

Cellular Component

GO:0005637	nuclear inner membrane
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome