MYO1A myosin IA [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO1Aprovided by HGNC
Official Full Name: myosin IAprovided by HGNC
Primary source: HGNC:HGNC:7595
See related: Ensembl:ENSG00000166866 MIM:601478; AllianceGenome:HGNC:7595
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BBMI; MIHC; MYHL; DFNA48
Summary: This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Biased expression in duodenum (RPKM 156.2), small intestine (RPKM 147.7) and 2 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12q13.3

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57028517..57051198, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56996387..57019101, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57422301..57444982, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data do not support a causal relationship of variants in MYO1A to sensorineural hearing loss. We suggest that the genotypic ascertainment method is useful to objectively evaluate gene-phenotype associations.
Title: A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.
This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.
Title: Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.
One missense variant, p.R544W, was found in the MYO1A gene, and in silico analysis suggested that this variant has deleterious effects on protein function.
Title: The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.
Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model
Title: Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
findings suggest that MYO1A has tumor suppressor activity in the normal gastric epithelium but not in the normal endometrium and inactivation of MYO1A either genetically or epigenetically may confer gastric epithelial cells a growth ad
Title: Brush border myosin Ia inactivation in gastric but not endometrial tumors.
Myo1a targeting to microvilli is driven by membrane binding potential that is distributed throughout TH1 rather than localized to a single motif.
Title: Myosin-1A targets to microvilli using multiple membrane binding motifs in the tail homology 1 (TH1) domain.
results identify MYO1A as a unique tumor-suppressor gene in colorectal cancer and demonstrate that the loss of structural brush border proteins involved in cell polarity are important for tumor development
Title: Brush border myosin Ia has tumor suppressor activity in the intestine.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Sensing molecular tension is crucial for a wide array of cellular processes. Myosin I dramatically alters its motile properties in response to tension.
Title: Myosin I can act as a molecular force sensor.
These data are the first to suggest that mechanical activity is essential for proper localization of Myo1a in microvilli.
Title: Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH93197 (e-PCR)
- UniSTS:91834

G64470 (e-PCR)
- UniSTS:163831

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in microvillus assembly	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in brush border	IBA Inferred from Biological aspect of Ancestor more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cortical actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in microvillus	IBA Inferred from Biological aspect of Ancestor more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
part_of myosin complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane raft	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: unconventional myosin-Ia

Names: brush border myosin I; myosin I heavy chain; myosin, heavy polypeptide-like (100kD); myosin, heavy polypeptide-like 110kDa

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012104.2 RefSeqGene

Range

6069..27681

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256041.2 → NP_001242970.1 unconventional myosin-Ia

See identical proteins and their annotated locations for NP_001242970.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC026120, AF105424, AK312431, D25786

Consensus CDS

CCDS8929.1

UniProtKB/Swiss-Prot

Q9UBC5, Q9UQD7

UniProtKB/TrEMBL

B2R643

Related

ENSP00000393392.2, ENST00000442789.6

Conserved Domains (4) summary

smart00015
Location:742 → 764

IQ; Calmodulin-binding motif

smart00242
Location:8 → 694

MYSc; Myosin. Large ATPases

cd01378
Location:22 → 681

MYSc_Myo1; class I myosin, motor domain

pfam06017
Location:847 → 1021

Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
NM_005379.4 → NP_005370.1 unconventional myosin-Ia

See identical proteins and their annotated locations for NP_005370.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC026120, BC059387, D25786

Consensus CDS

CCDS8929.1

UniProtKB/Swiss-Prot

Q9UBC5, Q9UQD7

UniProtKB/TrEMBL

B2R643

Related

ENSP00000300119.3, ENST00000300119.8

Conserved Domains (4) summary

smart00015
Location:742 → 764

IQ; Calmodulin-binding motif

smart00242
Location:8 → 694

MYSc; Myosin. Large ATPases

cd01378
Location:22 → 681

MYSc_Myo1; class I myosin, motor domain

pfam06017
Location:847 → 1021

Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

57028517..57051198 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428876.1 → XP_047284832.1 unconventional myosin-Ia isoform X1

UniProtKB/Swiss-Prot

Q9UBC5, Q9UQD7
XM_011538373.3 → XP_011536675.1 unconventional myosin-Ia isoform X2

UniProtKB/TrEMBL

B2R643

Conserved Domains (3) summary

smart00015
Location:742 → 764

IQ; Calmodulin-binding motif

smart00242
Location:8 → 694

MYSc; Myosin. Large ATPases

cd01378
Location:22 → 681

MYSc_Myo1; class I myosin, motor domain

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

56996387..57019101 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372105.1 → XP_054228080.1 unconventional myosin-Ia isoform X1

UniProtKB/Swiss-Prot

Q9UBC5, Q9UQD7
XM_054372106.1 → XP_054228081.1 unconventional myosin-Ia isoform X2