MYO3A myosin IIIA [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO3Aprovided by HGNC
Official Full Name: myosin IIIAprovided by HGNC
Primary source: HGNC:HGNC:7601
See related: Ensembl:ENSG00000095777 MIM:606808; AllianceGenome:HGNC:7601
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: DFNA90; DFNB30
Summary: The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 1.4), skin (RPKM 0.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (25934229..26212532)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (25959075..26237044)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (26223158..26501461)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The dynamics of actin protrusions can be controlled by tip-localized myosin motors.
Title: The dynamics of actin protrusions can be controlled by tip-localized myosin motors.
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
Title: Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.
Title: Deafness mutation in the MYO3A motor domain impairs actin protrusion elongation mechanism.
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Title: Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
Title: Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Title: A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.
Title: Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.
MYO3A is more efficient than MYO3B at increasing formation and elongation of stable microvilli on the surface of cultured epithelial cells.
Title: Impact of the Motor and Tail Domains of Class III Myosins on Regulating the Formation and Elongation of Actin Protrusions.
The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism.
Title: Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.
Study reports an amino acid substitution in MYO3A motor-head domain disrupting its ATPase activity that can cause autosomal dominant progressive hereditary hearing loss. Also, these results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips.
Title: MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive nonsyndromic hearing loss 30 MedGen: C1846784 OMIM: 607101 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Hearing loss, autosomal dominant 90 MedGen: CN376841 OMIM: 620722 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92482 (e-PCR)
- UniSTS:86808

SHGC-84170 (e-PCR)
- UniSTS:182341

SHGC-150838 (e-PCR)
- UniSTS:173423

D10S2481 (e-PCR), detects polymorphism
- UniSTS:72816

D10S1160 (e-PCR)
- UniSTS:1699

SHGC-148251 (e-PCR)
- UniSTS:172963

D10S1775 (e-PCR), detects polymorphism
- UniSTS:37044

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables plus-end directed microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cochlea morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin filament length	IBA Inferred from Biological aspect of Ancestor 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 sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 filopodium	IDA Inferred from Direct Assay more info	PubMed
is_active_in filopodium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in filopodium tip	IDA Inferred from Direct Assay more info	PubMed
part_of myosin complex	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
is_active_in stereocilium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium tip	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myosin-IIIa

Names: epididymis secretory sperm binding protein

NP_001355194.1

EC 2.7.11.1

NP_059129.3

EC 2.7.11.1

XP_011517800.1

EC 2.7.11.1

XP_011517801.1

EC 2.7.11.1

XP_011517802.1

EC 2.7.11.1

XP_011517804.1

EC 2.7.11.1

XP_011517805.1

EC 2.7.11.1

XP_011517807.1

EC 2.7.11.1

XP_011517808.1

EC 2.7.11.1

XP_011517810.1

EC 2.7.11.1

XP_011517812.1

EC 2.7.11.1

XP_011517813.1

EC 2.7.11.1

XP_011517814.1

EC 2.7.11.1

XP_011517815.1

EC 2.7.11.1

XP_047281311.1

EC 2.7.11.1

XP_047281312.1

EC 2.7.11.1

XP_047281313.1

EC 2.7.11.1

XP_047281314.1

EC 2.7.11.1

XP_047281315.1

EC 2.7.11.1

XP_047281316.1

EC 2.7.11.1

XP_047281317.1

EC 2.7.11.1

XP_047281319.1

EC 2.7.11.1

XP_054222072.1

EC 2.7.11.1

XP_054222073.1

EC 2.7.11.1

XP_054222074.1

EC 2.7.11.1

XP_054222075.1

EC 2.7.11.1

XP_054222076.1

EC 2.7.11.1

XP_054222077.1

EC 2.7.11.1

XP_054222078.1

EC 2.7.11.1

XP_054222079.1

EC 2.7.11.1

XP_054222080.1

EC 2.7.11.1

XP_054222081.1

EC 2.7.11.1

XP_054222082.1

EC 2.7.11.1

XP_054222083.1

EC 2.7.11.1

XP_054222084.1

EC 2.7.11.1

XP_054222085.1

EC 2.7.11.1

XP_054222086.1

EC 2.7.11.1

XP_054222087.1

EC 2.7.11.1

XP_054222088.1

EC 2.7.11.1

XP_054222089.1

EC 2.7.11.1

XP_054222090.1

EC 2.7.11.1

XP_054222091.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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_011635.1 RefSeqGene

Range

5157..283460

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1354

mRNA and Protein(s)

NM_001368265.1 → NP_001355194.1 myosin-IIIa isoform 2

Status: REVIEWED

Source sequence(s)

AL358612, BC036079

Consensus CDS

CCDS91223.1

UniProtKB/TrEMBL

Q86VY5

Related

ENSP00000365479.1, ENST00000376302.5
NM_017433.5 → NP_059129.3 myosin-IIIa isoform 1

See identical proteins and their annotated locations for NP_059129.3

Status: REVIEWED

Source sequence(s)

AL162503, AL360217, AL391812, AY101367, CD628204, CD628208, CK903348

Consensus CDS

CCDS7148.1

UniProtKB/Swiss-Prot

Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8

UniProtKB/TrEMBL

A0A384MED1

Related

ENSP00000495965.1, ENST00000642920.2

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

25934229..26212532

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519498.3 → XP_011517800.1 myosin-IIIa isoform X1

See identical proteins and their annotated locations for XP_011517800.1

UniProtKB/Swiss-Prot

Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519500.3 → XP_011517802.1 myosin-IIIa isoform X1

See identical proteins and their annotated locations for XP_011517802.1

UniProtKB/Swiss-Prot

Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519503.2 → XP_011517805.1 myosin-IIIa isoform X3

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519505.2 → XP_011517807.1 myosin-IIIa isoform X6

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_047425358.1 → XP_047281314.1 myosin-IIIa isoform X8
XM_047425355.1 → XP_047281311.1 myosin-IIIa isoform X4
XM_047425360.1 → XP_047281316.1 myosin-IIIa isoform X10
XM_047425357.1 → XP_047281313.1 myosin-IIIa isoform X5
XM_047425361.1 → XP_047281317.1 myosin-IIIa isoform X11
XM_011519502.1 → XP_011517804.1 myosin-IIIa isoform X2

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_047425359.1 → XP_047281315.1 myosin-IIIa isoform X9
XM_047425363.1 → XP_047281319.1 myosin-IIIa isoform X13
XM_011519506.3 → XP_011517808.1 myosin-IIIa isoform X7

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519510.2 → XP_011517812.1 myosin-IIIa isoform X14

Related

ENST00000642197.1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519508.2 → XP_011517810.1 myosin-IIIa isoform X12

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519511.3 → XP_011517813.1 myosin-IIIa isoform X15

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1000

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1007

MYSc_Myo3; class III myosin, motor domain
XM_047425356.1 → XP_047281312.1 myosin-IIIa isoform X5
XM_011519499.2 → XP_011517801.1 myosin-IIIa isoform X1

See identical proteins and their annotated locations for XP_011517801.1

UniProtKB/Swiss-Prot

Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8

UniProtKB/TrEMBL

A0A384MED1

Conserved Domains (4) summary

cd06638
Location:2 → 287

STKc_myosinIIIA_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIA myosin

smart00220
Location:21 → 287

S_TKc; Serine/Threonine protein kinases, catalytic domain

smart00242
Location:337 → 1053

MYSc; Myosin. Large ATPases

cd01379
Location:352 → 1041

MYSc_Myo3; class III myosin, motor domain
XM_011519512.2 → XP_011517814.1 myosin-IIIa isoform X16

Conserved Domains (2) summary

smart00015
Location:457 → 477

IQ; Calmodulin-binding motif

cl22853
Location:12 → 417

Motor_domain; Myosin and Kinesin motor domain
XM_011519513.3 → XP_011517815.1 myosin-IIIa isoform X17

Conserved Domains (2) summary

smart00015
Location:304 → 324

IQ; Calmodulin-binding motif

cl22853
Location:1 → 264

Motor_domain; Myosin and Kinesin motor domain