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MYO3A

GENERAL INFORMATION

Gene name

 MYO3A

Gene description

 Myosin IIIA

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (testis)
GTEx:Tissue enriched (testis)
FANTOM5:Tissue enhanced (pituitary gland, testis)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in retina.

DATA RELIABILITY

Data reliability
description

 Presumed off target binding observed and disregarded. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA048951
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Retina
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Retina

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinRetinaNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (testis)
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin0246810TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (testis)
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin0246810RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland, testis)
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina0246810Tags Per Million

GENE INFORMATION

Gene name

 MYO3A (HGNC Symbol)

Synonyms

 DFNB30

Description

 Myosin IIIA (HGNC Symbol)

Entrez gene 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]

Chromosome

 10

Cytoband

 p12.1

Chromosome location (bp)

 25934267 - 26212527

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000095777 (version 83.38)

Entrez gene

 53904

UniProt

 Q8NEV4 (UniProt - Evidence at transcript level)

neXtProt

 NX_Q8NEV4

Antibodypedia

 MYO3A antibodies

PROTEIN BROWSER
MYO3A-001
MYO3A-003
MYO3A-004
MYO3A-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MYO3A-001
ENSP00000265944
ENST00000265944
Q8NEV4 [Direct mapping]
Myosin-IIIa
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Enzymes
   ENZYME proteins
   Transferases
   Kinases
   STE Ser/Thr protein kinases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0000146 [microfilament motor activity]
GO:0001917 [photoreceptor inner segment]
GO:0003774 [motor activity]
GO:0004672 [protein kinase activity]
GO:0004674 [protein serine/threonine kinase activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006468 [protein phosphorylation]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0016459 [myosin complex]
GO:0018105 [peptidyl-serine phosphorylation]
GO:0018107 [peptidyl-threonine phosphorylation]
GO:0030175 [filopodium]
GO:0030898 [actin-dependent ATPase activity]
GO:0031941 [filamentous actin]
GO:0032426 [stereocilium bundle tip]
GO:0032433 [filopodium tip]
GO:0043531 [ADP binding]
GO:0046777 [protein autophosphorylation]
GO:0048839 [inner ear development]
GO:0050896 [response to stimulus]
GO:0051015 [actin filament binding]
GO:0051491 [positive regulation of filopodium assembly]
GO:0060002 [plus-end directed microfilament motor activity]
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 1616 aa
186.2 kDa 		No 0
MYO3A-003
ENSP00000365479
ENST00000376302
Q8NEV4 [Direct mapping]
Myosin-IIIa
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Enzymes
   ENZYME proteins
   Transferases
   Kinases
   STE Ser/Thr protein kinases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Show all
GO:0000146 [microfilament motor activity]
GO:0004672 [protein kinase activity]
GO:0005516 [calmodulin binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0006468 [protein phosphorylation]
GO:0007601 [visual perception]
GO:0007605 [sensory perception of sound]
GO:0016459 [myosin complex]
GO:0030175 [filopodium]
GO:0030898 [actin-dependent ATPase activity]
GO:0031941 [filamentous actin]
GO:0043531 [ADP binding]
GO:0046777 [protein autophosphorylation]
GO:0050896 [response to stimulus]
GO:0060002 [plus-end directed microfilament motor activity]
Show all
 247 aa
27.7 kDa 		No 0
MYO3A-004
ENSP00000365478
ENST00000376301
B1ANA3 [Direct mapping]
Myosin-IIIa
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Predicted intracellular proteins
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GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
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 197 aa
22.2 kDa 		No 0
MYO3A-201
ENSP00000445909
ENST00000543632
F5H0U9 [Direct mapping]
Myosin-IIIa
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0003774 [motor activity]
GO:0004672 [protein kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0016459 [myosin complex]
Show all
 664 aa
74.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.