Entity Details

Primary name KY_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NBH2
EntryNameKY_HUMAN
FullNameKyphoscoliosis peptidase
TaxID9606
Evidenceevidence at protein level
Length661
SequenceStatuscomplete
DateCreated2007-05-29
DateModified2021-06-02

Ontological Relatives

GenesKY

GO terms

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GOName
GO:0005856 cytoskeleton
GO:0008233 peptidase activity
GO:0030018 Z disc

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002931 Transglutaminase-likeDomainDomain
IPR038765 Papain-like cysteine peptidase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617114 OMIMMyopathy, myofibrillar, 7 (MFM7)A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KY_HUMANFLNC_HUMANHPRD15385448 details