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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYO5A
myosin VA
Chromosome 15 Β· 15q21.2
NCBI Gene: 4644Ensembl: ENSG00000197535.16HGNC: HGNC:7602UniProt: A0A8I5KTF1
182PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
filopodium tipvesicle transport along actin filamentcytosolactin filamentGriscelli syndrome type 1Griscelli diseaseGriscelli disease type 1Griscelli syndrome type 3
✦AI Summary

MYO5A encodes a processive actin-based motor protein that hydrolyzes ATP to power movement along actin filaments in large steps approximating the 36-nm pseudo-repeat structure 1. Its primary functions include melanosome transport to the cell periphery through interaction with the adaptor protein melanophilin 2, and regulation of vesicular transport to the plasma membrane. MYO5A mediates autophagosome-lysosome fusion critical for autophagic flux through direct LC3 binding via two LIR motifs in its coiled-coil and globular tail domains 3. Additionally, MYO5A interacts with the endosomal protein RAB5A effector ANKFY1 to facilitate early endosome transport 4 and links to mitochondrial homeostasis 4. MYO5A mutations cause Griscelli syndrome type 1, characterized by immune dysfunction and neurological deterioration 5. Loss of MYO5A expression causes severe neuropathology including alpha-synuclein and tau hyperphosphorylation, dopaminergic neurodegeneration, impaired mitochondrial respiration, and progressive movement disorders 6. A spontaneous Myo5a splice variant in mice causes rapidly progressive ataxia with cerebellar abnormalities and perinatal lethality 4. MYO5A has emerged as a fusion partner in melanocytic tumors, including Spitz neoplasms and melanomas 78. MYO5A also functions in spermiogenesis through BAG5-mediated protein folding during sperm head-tail coupling apparatus assembly 9.

Sources cited
1
MYO5A hydrolyzes ATP in the presence of actin, essential for motor protein function
PMID: 10448864
2
MYO5A associates with melanosomes through melanophilin interactions to mediate melanosome transport
PMID: 38900147
3
MYO5A regulates autophagosome-lysosome fusion through LC3 binding via LIR motifs
PMID: 41540112
4
MYO5A interacts with RAB5A effector ANKFY1 for endosomal transport and links to mitochondrial homeostasis
PMID: 40022605
5
MYO5A mutations cause Griscelli syndrome with immune and neurological dysfunction
PMID: 17483661
6
MYO5A mutations cause alpha-synuclein/tau hyperphosphorylation and progressive neurodegeneration
PMID: 29217155
7
MYO5A is a fusion partner in Spitz melanocytic neoplasms
PMID: 39986469
8
MYO5A-BRAF fusion identified in melanoma cases
PMID: 35596628
9
MYO5A requires BAG5-mediated protein folding for sperm head-tail coupling apparatus assembly
PMID: 38454159
Disease Associationsβ“˜21
Griscelli syndrome type 1Open Targets
0.75Strong
Griscelli diseaseOpen Targets
0.72Strong
Griscelli disease type 1Open Targets
0.67Moderate
Griscelli syndrome type 3Open Targets
0.51Moderate
Griscelli disease type 3Open Targets
0.47Moderate
neuroectodermal melanolysosomal diseaseOpen Targets
0.47Moderate
Griscelli syndromeOpen Targets
0.46Moderate
acrocephalopolydactylyOpen Targets
0.37Weak
cutaneous LeishmaniasisOpen Targets
0.37Weak
melanocytic neoplasmOpen Targets
0.37Weak
spitz nevusOpen Targets
0.37Weak
SeizureOpen Targets
0.33Weak
Cerebellar cortical atrophyOpen Targets
0.33Weak
DystoniaOpen Targets
0.33Weak
dystonic disorderOpen Targets
0.33Weak
Global developmental delayOpen Targets
0.33Weak
NystagmusOpen Targets
0.33Weak
breast adenocarcinomaOpen Targets
0.29Weak
chondrocalcinosisOpen Targets
0.29Weak
KeloidOpen Targets
0.26Weak
Griscelli syndrome 1UniProt
Pathogenic Variants10
NM_001382347.1(MYO5A):c.697C>T (p.Arg233Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 233
NM_001382347.1(MYO5A):c.655C>T (p.Arg219Cys)Likely pathogenic
Griscelli syndrome type 1
β˜…β˜†β˜†β˜†2025β†’ Residue 219
NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)Likely pathogenic
Griscelli syndrome type 1
β˜…β˜†β˜†β˜†2020β†’ Residue 1015
NM_001382347.1(MYO5A):c.855dup (p.Asn286Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 286
NM_001382347.1(MYO5A):c.2012+1G>TPathogenic
Griscelli syndrome type 1
β˜…β˜†β˜†β˜†2017
NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter)Pathogenic
Griscelli syndrome type 1
β˜†β˜†β˜†β˜†2022β†’ Residue 704
NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter)Pathogenic
Griscelli syndrome type 1
β˜†β˜†β˜†β˜†2022β†’ Residue 155
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)Pathogenic
Cerebellar cortical atrophy;Dystonic disorder;Seizure;Global developmental delay;Nystagmus
β˜†β˜†β˜†β˜†2016β†’ Residue 1400
NM_001382347.1(MYO5A):c.4239+871_4315-331delPathogenic
Griscelli syndrome type 3
β˜†β˜†β˜†β˜†2003
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter)Pathogenic
Griscelli syndrome type 1
β˜†β˜†β˜†β˜†2002β†’ Residue 778
View on ClinVar β†—
Related Genes
RPH3AProtein interaction100%EXOC7Protein interaction100%EXOC6Protein interaction100%EXOC4Protein interaction100%EXOC3Protein interaction100%EXOC5Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
67%
Lung
15%
Ovary
14%
Heart
13%
Liver
5%
Gene Interaction Network
Click a node to explore
MYO5ARPH3AEXOC7EXOC6EXOC4EXOC3EXOC5
PROTEIN STRUCTURE
Preparing viewer…
PDB4LX2 Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.38 [0.32–0.46]
RankingsWhere MYO5A stands among ~20K protein-coding genes
  • #2,385of 20,598
    Most Researched182 Β· top quartile
  • #2,833of 5,498
    Most Pathogenic Variants10
  • #2,609of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedMYO5A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly.
PMID: 38454159
EMBO Rep Β· 2024
1.00
2
A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
PMID: 40022605
FASEB J Β· 2025
0.90
3
Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
PMID: 24339992
PLoS One Β· 2013
0.88
4
PMID: 34680875
Genes (Basel) Β· 2021
0.84
5
MYO5A-mediated stabilization promotes the acquisition of fusion competence in sealed autophagosomes.
PMID: 41540112
EMBO J Β· 2026
0.80