Entity Details

Primary name MBTP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14703
EntryNameMBTP1_HUMAN
FullNameMembrane-bound transcription factor site-1 protease
TaxID9606
Evidenceevidence at protein level
Length1052
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesMBTPS1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0004252 serine-type endopeptidase activity
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0006508 proteolysis
GO:0006606 protein import into nucleus
GO:0007040 lysosome organization
GO:0008203 cholesterol metabolic process
GO:0016021 integral component of membrane
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0031293 membrane protein intracellular domain proteolysis
GO:0034976 response to endoplasmic reticulum stress
GO:0036500 ATF6-mediated unfolded protein response
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0060627 regulation of vesicle-mediated transport

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR000209 Peptidase S8/S53 domainDomainDomain
IPR015500 Peptidase S8, subtilisin-relatedFamilyFamily
IPR022398 Peptidase S8, subtilisin, His-active siteSiteActive site
IPR023828 Peptidase S8, subtilisin, Ser-active siteSiteActive site
IPR034185 Site-1 peptidase catalytic domainDomainDomain
IPR036852 Peptidase S8/S53 domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618392 OMIMSpondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF)A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.