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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MYO1D
myosin ID
Chromosome 17 · 17q11.2
NCBI Gene: 4642Ensembl: ENSG00000176658.17HGNC: HGNC:7598UniProt: J3KRL0
129PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein domain specific bindingprotein bindingmicrofilament motor activityalcohol drinkingmyopiaDupuytren ContractureAstigmatism
✦AI Summary

MYO1D is an unconventional myosin that functions as an actin-based motor protein with calcium-regulated ATPase activity 1. Its primary role involves endosomal protein trafficking, particularly mediating cargo transfer from early to recycling endosomes, and maintaining planar cell polarity and coordinated ciliary movement in tracheal and brain ependymal cells. MYO1D anchors unphosphorylated EGFR family members at the plasma membrane before their activation by binding to their kinase domains via its C-terminal tail domain 2. It also preferentially binds PDGFRα/β heterodimers and mediates their internalization into early endosomes, thereby regulating downstream ERK1/2 signaling 3. In disease contexts, MYO1D upregulation promotes acute myeloid leukemia progression through SPAG6-mediated translocation to the cell membrane, enhancing EGFR expression and activating PI3K/AKT and ERK signaling 4. MYO1D facilitates colorectal and breast cancer progression by increasing EGFR levels and cell motility 25. Biallelic MYO1D variants (D511N and P765S) are associated with laterality defects, congenital heart disease, and sperm dysfunction in humans, indicating critical developmental roles 67. MYO1D represents both a prognostic biomarker and potential therapeutic target in cancer and developmental disorders.

Sources cited
1
MYO1D has two IQ-motifs that bind calmodulin, and Ca2+/calmodulin binding inhibits actin-activated ATPase activity
PMID: 15853803
2
MYO1D binds unphosphorylated EGFR family members at the kinase domain and anchors them to plasma membrane; overexpression promotes cancer cell motility and colorectal tumor progression
PMID: 31420606
3
MYO1D preferentially binds PDGFRα/β heterodimers and mediates their internalization; MYO1D knockdown leads to increased ERK1/2 phosphorylation and cell proliferation
PMID: 40404618
4
SPAG6 interacts with MYO1D and promotes its translocation to cell membrane, upregulating EGFR expression and activating PI3K/AKT and ERK signaling in acute myeloid leukemia
PMID: 35667090
5
MYO1D expression is increased in triple negative breast cancer tissue, associated with neutrophil infiltration and poor overall survival; MYO1D facilitates breast cancer invasion and metastasis
PMID: 38512527
6
Biallelic MYO1D variants (D511N and P765S) are associated with laterality defects, congenital heart disease, and sperm defects in humans
PMID: 38684630
7
MYO1D is identified as a candidate gene variant in patients with congenital heart disease and laterality defects
PMID: 40467998
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.35Weak
myopiaOpen Targets
0.33Weak
Dupuytren ContractureOpen Targets
0.32Weak
AstigmatismOpen Targets
0.28Weak
Abnormality of refractionOpen Targets
0.27Weak
response to radiationOpen Targets
0.27Weak
Inguinal herniaOpen Targets
0.26Weak
neuroinflammatory disorderOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.24Weak
Abnormality of the immune systemOpen Targets
0.24Weak
major salivary gland cancerOpen Targets
0.21Weak
refractive errorOpen Targets
0.16Weak
HypermetropiaOpen Targets
0.12Weak
inflammatory bowel diseaseOpen Targets
0.11Weak
inflammatory bowel disease 13Open Targets
0.10Weak
inflammatory bowel disease 19Open Targets
0.10Weak
inflammatory bowel disease 29Open Targets
0.10Weak
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.07Suggestive
inflammatory bowel disease 25Open Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTBProtein interaction83%RAB11FIP4Protein interaction81%UNC119Protein interaction77%MYO1HShared pathway75%ACTG1Protein interaction74%MYO1AShared pathway60%
Tissue Expression6 tissues
Brain
100%
Lung
72%
Ovary
61%
Liver
36%
Heart
27%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
MYO1DACTBRAB11FIP4UNC119MYO1HACTG1MYO1A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94832
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.52–0.79]
RankingsWhere MYO1D stands among ~20K protein-coding genes
  • #3,631of 20,598
    Most Researched129 · top quartile
  • #6,484of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedMYO1D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Upregulated SPAG6 promotes acute myeloid leukemia progression through MYO1D that regulates the EGFR family expression.
PMID: 35667090
Blood Adv · 2022
1.00
2
KITENIN promotes aerobic glycolysis through PKM2 induction by upregulating the c-Myc/hnRNPs axis in colorectal cancer.
PMID: 37553596
Cell Biosci · 2023
0.90
3
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.
PMID: 38684630
Front Med · 2024
0.80
4
The two IQ-motifs and Ca2+/calmodulin regulate the rat myosin 1d ATPase activity.
PMID: 15853803
FEBS J · 2005
0.70
5
Identification and validation of neutrophils-related subtypes and prognosis model in triple negative breast cancer.
PMID: 38512527
J Cancer Res Clin Oncol · 2024
0.60