MYO1D

protein-coding

myosin ID, the group of Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class I

Gene summary

Enables protein domain specific binding activity. Predicted to be involved in several processes, including actin filament organization; actin filament-based movement; and obsolete early endosome to recycling endosome transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_015194.3

Inheritance

—

ClinVar variants

U:143B:11

Top phenotype

Preeclampsia

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr17:32,492,522-32,877,177

External References & Databases

Ensembl (ENSG00000176658)

Transcript & Mutation Effects

hg38 • Region Span ~384.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYO1D variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 136

not providedTotal: 12

PreeclampsiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015194.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	4 clinvar	2 clinvar	7
missense			137 clinvar	4 clinvar	1 clinvar	142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	143	8	3	154

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015194.3	RefSeq	NP_056009.1	22	MANE Select
ENST00000318217.10	Ensembl	ENSP00000324527.5	22	MANE Select
NM_001303279.2	RefSeq	NP_001290208.1	22	Standard
NM_001303280.2	RefSeq	NP_001290209.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of phosphatase activity
forebrain development
cellular localization
early endosome to recycling endosome transport

Molecular Function

microfilament motor activity
calmodulin binding
ATP binding
protein domain specific binding
actin-dependent ATPase activity

Cellular Component

endosome
smooth endoplasmic reticulum
cytosol
brush border
basolateral plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000318217
Coding exons: 22
Length: 384656
Individuals with no LoFs: 125655
Homozygous LoFs: 0
Heterozygous LoFs: 93
Defined: 125748
p: 0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.36	487	579	0.841	0.0000344	6652
Missense (PolyPhen)		159	216.13	0.73567		2502
Synonymous	0.109	207	209	0.990	0.0000123	1870
Loss of Function	3.36	29	56.2	0.516	0.00000329	638

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00044	0.00043	rare
Ashkenazi Jewish	0.00040	0.00040	rare
East Asian	0.00038	0.00038	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00035	0.00034	rare
South Asian	0.00030	0.00029	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.154

Intolerance Scores

RVIS EVS: -0.64
RVIS percentile EVS: 16.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.922

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium