1. Gene
  2. MYO5A - myosin VA Gene

MYO5A - myosin VA Gene

Homo sapiens

Also known as GS1; MYO5; MYH12; MYR12

Gene ID: 4644 | Gene type: protein coding

About MYO5A

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:52,307,283-52,529,050 (from NCBI)

This gene has 51 transcripts (splice variants), 212 orthologues, 43 paralogues and is associated with 94 phenotypes. Broad expression in brain (RPKM 28.8), skin (RPKM 5.7) and 20 other tissues.

Summary

This gene is one of three Myosin V heavy-chain genes, belonging to the Myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]

MYO5A Products(6)

mRNA Protein Name
NM_000259.3 NP_000250.3 unconventional myosin-Va isoform 1
NM_001142495.2 NP_001135967.2 unconventional myosin-Va isoform 2
NM_001382347.1 NP_001369276.1 unconventional myosin-Va isoform 3
NM_001382348.1 NP_001369277.1 unconventional myosin-Va isoform 4
NM_001382349.1 NP_001369278.1 unconventional myosin-Va isoform 5
NM_001411135.1 NP_001398064.1 unconventional myosin-Va isoform 6

MYO5A Protein Structure

Myosin_head

Myosin_head: Myosin head (motor domain) (72 - 751)

IQ

IQ: IQ calmodulin-binding motif (767 - 786)

IQ

IQ: IQ calmodulin-binding motif (790 - 809)

IQ

IQ: IQ calmodulin-binding motif (815 - 835)

IQ

IQ: IQ calmodulin-binding motif (838 - 858)

IQ

IQ: IQ calmodulin-binding motif (865 - 883)

IQ

IQ: IQ calmodulin-binding motif (887 - 906)

DIL

DIL: DIL domain (1687 - 1790)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1855 a.a.
Protein Preferred Names Protein Names

unconventional myosin-Va

dilute myosin heavy chain, non-muscle

Related Diseases

Diseases Alias
Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment

Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3

GS3

Griscelli-Prunieras Syndrome Type 3

Hypomelanosis With No Immunologic Or Neurologic Manifestations

Griscelli Syndrome 3

Elejalde Neuroectodermal Melanolysosomal Syndrome

Elejalde Syndrome

Neuroectodermal Melanolysosomal Disease

Elejalde Disease

ELEJAS

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Joubert Syndrome 7

JBTS7

Cerebello-Oculo-Renal Syndrome 3

Cors3

Joubert Syndrome, Type 7

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

Giant Axonal Neuropathy 2
Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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

Orthologs Information

Species Symbol Source ID
Canis familiaris MYO5A VGNC VGNC:43568
Rattus norvegicus MYO5A RGD RGD:3143
Macaca mulatta MYO5A VGNC VGNC:75116
Mus musculus MYO5A MGD MGI:105976
Bos taurus MYO5A VGNC VGNC:31826
Felis catus MYO5A VGNC VGNC:68396