InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYH8

Summary

InnateDB Protein

IDBP-294273.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYH8

Protein Name

myosin, heavy chain 8, skeletal muscle, perinatal

Synonyms

gtMHC-F; MyHC-peri; MyHC-pn;

Species

Homo sapiens

Ensembl Protein

ENSP00000384330

InnateDB Gene

IDBG-30176 (MYH8)

Protein Structure

UniProt Annotation

Function

Muscle contraction.

Subcellular Localization

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

Disease Associations

Carney complex variant (CACOV) [MIM:608837]: 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. {ECO:0000269PubMed:15282353}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arthrogryposis, distal, 7 (DA7) [MIM:158300]: 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. {ECO:0000269PubMed:15282353, ECO:0000269PubMed:20949528}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000146	microfilament motor activity
GO:0003774	motor activity
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0008307	structural constituent of muscle
GO:0016887	ATPase activity
GO:0032027	myosin light chain binding
GO:0051015	actin filament binding

Biological Process

GO:0003009	skeletal muscle contraction
GO:0006200	ATP catabolic process
GO:0006936	muscle contraction
GO:0016192	vesicle-mediated transport
GO:0030049	muscle filament sliding

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005859	muscle myosin complex
GO:0016020	membrane
GO:0016459	myosin complex
GO:0030017	sarcomere
GO:0032982	myosin filament

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001609 Myosin head, motor domain
IPR002928 Myosin tail
IPR004009 Myosin, N-terminal, SH3-like
IPR009053 Prefoldin
IPR010989 t-SNARE
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00612
PF00063
PF01576
PF02736

PRINTS

PR00193

PIRSF

SMART

SM00015
SM00242

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt