Entity Details

Primary name YMEL1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96TA2
EntryNameYMEL1_HUMAN
FullNameATP-dependent zinc metalloprotease YME1L1
TaxID9606
Evidenceevidence at protein level
Length773
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesYME1L1

GO terms

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GOName
GO:0004176 ATP-dependent peptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006508 proteolysis
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins
GO:0006851 mitochondrial calcium ion transmembrane transport
GO:0007005 mitochondrion organization
GO:0008283 cell population proliferation
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016604 nuclear body
GO:0034214 protein hexamerization
GO:0034982 mitochondrial protein processing
GO:0035694 mitochondrial protein catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR000642 Peptidase M41DomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR003959 ATPase, AAA-type, coreDomainDomain
IPR003960 ATPase, AAA-type, conserved siteSiteConserved site
IPR005936 Peptidase, FtsHFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR037219 Peptidase M41-likeFamilyHomologous superfamily
IPR041569 AAA ATPase, AAA+ lid domainDomainDomain

Diseases

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Disease IDSourceNameDescription
617302 OMIMOptic atrophy 11 (OPA11)An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging. The disease may be caused by variants affecting the gene represented in this entry.