MYO1B
protein-codingmyosin IB, the group of Myosin heavy chains, class I
Gene summary
Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~180.2 kbGenCC 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 MYO1B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001130158.3. 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 | 2 | 3 | 5 | |||
| missense | 122 | 1 | 1 | 124 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 1 | 0 | 131 | 1 | 4 | 137 |
Highest pathogenic variant AF is 6.997333e-7
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001123630.1 | 30 | MANE Select | |
| Ensembl | ENSP00000376132.3 | 30 | MANE Select | |
| RefSeq | NP_001155291.1 | 30 | Standard | |
| RefSeq | NP_001317166.1 | 29 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| myo1b | Danio rerio | Structure: anterior axial hypoblast Quality: increased amount abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- post-Golgi vesicle-mediated transport
- actin filament organization
- actin filament-based movement
- actin filament bundle assembly
Molecular Function
- microfilament motor activity
- calmodulin binding
- ATP binding
- phosphatidylinositol-4,5-bisphosphate binding
- phosphatidylinositol-3,4,5-trisphosphate binding
Cellular Component
- cytoplasm
- early endosome
- actin filament
- plasma membrane
- brush border
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000392318
- Coding exons
- 30
- Length
- 180205
- Individuals with no LoFs
- 125699
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 49
- Defined
- 125748
- p
- 0.000195
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.43 | 446 | 616 | 0.724 | 0.0000332 | 7515 |
| Missense (PolyPhen) | 168 | 259.8 | 0.64665 | 3214 | ||
| Synonymous | -0.403 | 227 | 219 | 1.03 | 0.0000118 | 2050 |
| Loss of Function | 5.54 | 22 | 73.1 | 0.301 | 0.00000410 | 848 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.00018 | 0.00017 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00028 | 0.00028 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- LoFtool
- 0.0721
- RVIS EVS
- -1.22
- RVIS percentile EVS
- 5.67
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.899
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |