Entity Details

Primary name MYH8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13535
EntryNameMYH8_HUMAN
FullNameMyosin-8
TaxID9606
Evidenceevidence at transcript level
Length1937
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesMYH8

GO terms

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GOName
GO:0000146 microfilament motor activity
GO:0003009 skeletal muscle contraction
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0006936 muscle contraction
GO:0008307 structural constituent of muscle
GO:0016887 ATP hydrolysis activity
GO:0030017 sarcomere
GO:0030049 muscle filament sliding
GO:0032027 myosin light chain binding
GO:0032982 myosin filament
GO:0046034 ATP metabolic process
GO:0051015 actin filament binding

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000048 IQ motif, EF-hand binding siteSiteBinding site
IPR001609 Myosin head, motor domainDomainDomain
IPR002928 Myosin tailDomainDomain
IPR004009 Myosin, N-terminal, SH3-likeDomainDomain
IPR008989 Myosin S1 fragment, N-terminalFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036961 Kinesin motor domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
158300 OMIMArthrogryposis, distal, 7 (DA7)A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. The disease is caused by variants affecting the gene represented in this entry.
608837 OMIMCarney complex variant (CACOV)Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions