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  2. MYO3A - myosin IIIA Gene

MYO3A - myosin IIIA Gene

中文名称:肌球蛋白 IIIA

种属: Homo sapiens

同用名: DFNB30

基因 ID: 53904 | 基因类型: protein coding

关于 MYO3A

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:25,934,229-26,212,532 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues, 43 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.4), skin (RPKM 0.2) and 4 other tissues.

功能概要

该基因编码的蛋白质属于肌球蛋白超家族。肌球蛋白是肌动蛋白依赖性运动蛋白,根据其可变的 C 末端货物结合域分为常规肌球蛋白 (II 类) 和非常规肌球蛋白 (I 类和 III 类至 XV 类) 。 III 类肌球蛋白,例如这个,在保守的 N 末端运动结构域的 N 末端有一个激酶结构域,并在光感受器中表达。由该基因编码的蛋白质在人类听力中起着重要作用。已证明编码蛋白质中三种不同的隐性、功能丧失突变会导致非综合征性进行性听力损失。该基因的表达受到高度限制,在视网膜和耳蜗中表达最强。[RefSeq 提供,2008 年 7 月]

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]

MYO3A 基因产物(2)

mRNA Protein Name
NM_001368265.1 NP_001355194.1 myosin-IIIa isoform 2
NM_017433.5 NP_059129.3 myosin-IIIa isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ADP binding IDA
IDA: 通过直接分析推断
12672820 GOA
enables calmodulin binding IDA
IDA: 通过直接分析推断
12672820 GOA
enables microfilament motor activity IDA
IDA: 通过直接分析推断
1262820 GOA
enables microfilament motor activity IMP
IMP: 通过突变表型推断
17021180 GOA
enables plus-end directed microfilament motor activity IDA
IDA: 通过直接分析推断
12672820 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25822849 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
12672820 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
12672820 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
12032315 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25822849 GOA
part of filamentous actin IDA
IDA: 通过直接分析推断
12672820 GOA
located in filopodium IDA
IDA: 通过直接分析推断
17021180 GOA
located in filopodium tip IDA
IDA: 通过直接分析推断
25822849 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MYO3A 蛋白结构

Pkinase

Pkinase: Protein kinase domain (21 - 287)

Myosin_head

Myosin_head: Myosin head (motor domain) (340 - 1041)

IQ

IQ: IQ calmodulin-binding motif (1084 - 1101)

IQ

IQ: IQ calmodulin-binding motif (1348 - 1367)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1616 a.a.
蛋白主名 其他名称

myosin-IIIa

epididymis secretory sperm binding protein

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 30

DFNB30

Autosomal Recessive Nonsyndromic Deafness 30

Autosomal Recessive Deafness 30

Deafness, Autosomal Recessive, 30

Deafness, Autosomal Recessive, Type 30

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss

Isolated Genetic Deafness

Isolated Genetic Hearing Loss

Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss

Nonsyndromic Deafness

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss And Deafness

Deafness, Nonsyndromic

Isolated Deafness

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

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 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

Deafness, Autosomal Recessive 77

DFNB77

Autosomal Recessive Nonsyndromic Deafness 77

Autosomal Recessive Deafness 77

Deafness, Autosomal Recessive, 77

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77

Deafness, Autosomal Recessive, Type 77

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

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

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

Dfnb3

Nrsd3

Deafness, Autosomal Recessive 3

Deafness, Autosomal Dominant 11

DFNA11

Autosomal Dominant Nonsyndromic Deafness 11

Autosomal Dominant Deafness 11

Deafness, Autosomal Dominant, 11

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11

Deafness, Autosomal Dominant, Type 11

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Deafness, Autosomal Recessive 2

DFNB2

Neurosensory Nonsyndromic Recessive Deafness 2

Nsrd2

Autosomal Recessive Nonsyndromic Deafness 2

Deafness, Autosomal Recessive, Type 2

Autosomal Recessive Deafness 2

Deafness, Autosomal Recessive, 2

Deafness Neurosensory Autosomal Recessive 2

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

Deafness, Autosomal Recessive 2, Neurosensory

Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

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

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MYO3A VGNC VGNC:43567
Macaca mulatta MYO3A VGNC VGNC:75115
Mus musculus MYO3A MGD MGI:2183924
Rattus norvegicus MYO3A RGD RGD:1560083
Bos taurus MYO3A VGNC VGNC:31824
Felis catus MYO3A VGNC VGNC:68395
Others MYO3A NCBI