Entity Details

Primary name KBTBD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionC9JR72
EntryNameKBTBD_HUMAN
FullNameKelch repeat and BTB domain-containing protein 13
TaxID9606
Evidenceevidence at protein level
Length458
SequenceStatuscomplete
DateCreated2010-05-18
DateModified2021-06-02

Ontological Relatives

GenesKBTBD13

GO terms

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GOName
GO:0005829 cytosol
GO:0007015 actin filament organization
GO:0014728 regulation of the force of skeletal muscle contraction
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification
GO:0051015 actin filament binding
GO:0090076 relaxation of skeletal muscle

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR006652 Kelch repeat type 1RepeatRepeat
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR015915 Kelch-type beta propellerFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
609273 OMIMNemaline myopathy 6 (NEM6)A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KBTBD_HUMANCUL3_HUMANBioGRID22542517 details