MYO1A - myosin IA Gene

Homo sapiens

Also known as BBMI; MIHC; MYHL; DFNA48

Gene ID: 4640 | Gene type: protein coding

About MYO1A

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,028,517-57,051,198 (from NCBI)

This gene has 9 transcripts (splice variants), 122 orthologues, 43 paralogues and is associated with 1 phenotype. Biased expression in duodenum (RPKM 156.2), small intestine (RPKM 147.7) and 2 other tissues.

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]

MYO1A Products(2)

mRNA	Protein	Name
NM_001256041.2	NP_001242970.1	unconventional myosin-Ia
NM_005379.4	NP_005370.1	unconventional myosin-Ia

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12736868	GOA
involved in vesicle localization	IMP IMP: Inferred from mutant phenotype	8692943	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	9858156	GOA
located in brush border	IDA IDA: Inferred from direct assay	9858156	GOA
located in cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	8692943	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9858156	GOA
part of filamentous actin	IDA IDA: Inferred from direct assay	9858156	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	9858156	GOA
located in microvillus	IDA IDA: Inferred from direct assay	9858156	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO1A Protein Structure

Myosin_head

Myosin_TH1

0
200
400
600
800
1043 a.a.

Protein Preferred Names

Protein Names

unconventional myosin-Ia

brush border myosin I

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 48

DFNA48	Autosomal Dominant Nonsyndromic Deafness 48
Autosomal Dominant Deafness 48	Deafness, Autosomal Dominant, 48
Deafness Autosomal Dominant Due To Mutation In Myo1a	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48	Deafness, Autosomal Dominant, Type 48

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Recessive 37

DFNB37	Autosomal Recessive Nonsyndromic Deafness 37
Autosomal Recessive Deafness 37	Deafness, Autosomal Recessive, 37
Congenital Neurosensory Deafness Autosomal Recessive 37	Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37	Deafness, Autosomal Recessive, Type 37

Deafness, Autosomal Dominant 22

DFNA22	Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy
Autosomal Dominant Nonsyndromic Deafness 22	Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
Autosomal Dominant Deafness 22	Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome	Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
DFNHCM	Deafness, Autosomal Dominant, 22
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
Deafness, Autosomal Dominant, Type 22	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Retinitis Pigmentosa 37

RP37	Retinitis Pigmentosa-37
Retinitis Pigmentosa, Type 37

Deafness, Autosomal Dominant 17

DFNA17	Autosomal Dominant Nonsyndromic Deafness 17
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	Autosomal Dominant Deafness 17
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration	Nonsyndromic Hereditary Deafness Dfna17
Deafness, Autosomal Dominant, 17	Cochleosaccular Degeneration
Deafness, Autosomal Dominant, Type 17	Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Deafness, Autosomal Recessive 30

DFNB30	Autosomal Recessive Nonsyndromic Deafness 30
Autosomal Recessive Deafness 30	Deafness, Autosomal Recessive, 30
Deafness, Autosomal Recessive, Type 30

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3	Dfnb3
Nrsd3	Deafness, Autosomal Recessive 3

Y-Linked Deafness

Dfny

Microvillus Inclusion Disease

Congenital Microvillous Atrophy	Intractable Diarrhea Of Infancy
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities	Davidson Disease
Microvillous Inclusion Disease	Congenital Microvillus Atrophy
Mvid	Diarrhea 2 With Microvillus Atrophy
Mvd	Congenital Familial Protracted Diarrhea
Davidson'S Disease	Familial Enteropathy, Microvillus
Microvillus Atrophy, Congenital	Congenital Enteropathy
Familial Protracted Enteropathy	Microvillous Atrophy
Microvillus Atrophy With Diarrhea 2	Idi

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08937	MYO1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MYO1A	VGNC	VGNC:31816
Rattus norvegicus	MYO1A	RGD	RGD:3135
Felis catus	MYO1A	VGNC	VGNC:68388
Macaca mulatta	MYO1A	VGNC	VGNC:75110
Canis familiaris	MYO1A	VGNC	VGNC:43560
Mus musculus	MYO1A	MGD	MGI:107732

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