• Gene id: 4644

Gene Summary

• Gene Symbol: MYO5A   Gene   UCSC   Ensembl
• Aliases: GS1, MYH12, MYO5, MYR12
• Gene name: myosin VA
• Alternate names: unconventional myosin-Va, dilute myosin heavy chain, non-muscle, myosin V, myosin VA (heavy chain 12, myoxin), myosin, heavy polypeptide kinase, myosin-12, myosin-Va, myoxin,
• Gene location: 15q21.2 (124461822: 124614140)     Exons: 15     NC_000010.11
• Gene summary(Entrez): 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 p
• OMIM: 160777

SNPs

rs13206743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

Protein Summary

• Protein general information: Q9Y4I1  
  • Name: Unconventional myosin Va (Dilute myosin heavy chain, non muscle) (Myosin heavy chain 12) (Myosin 12) (Myoxin)
  • Length: 1855  
  • Mass: 215405
  • Tissue specificity: Detected in melanocytes.
• Sequence:

  MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLT
  ALSYLHEPAVLHNLRVRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQM
  ARDERNQSIIVSGESGAGKTVSAKYAMRYFATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIE
  IGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVD
  DAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIFCELMGVDYEEMCHWL
  CHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
  QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQ
  KLYNTHLNKCALFEKPRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAIS
  PTSATSSGRTPLTRTPAKPTKGRPGQMAKEHKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEK
  RAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVLSDRKQTCKNVLEKLILDKDKYQFGKTKIFF
  RAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAKFLRRTKAATIIQKYW
  RMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
  AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSE
  EEAKVATGRVLSLQEEIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAK
  EMTETMEKKLVEETKQLELDLNDERLRYQNLLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYI
  FSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQVMQDELDRKEEQVLRSKAKEEERPQIRGAE
  LEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELDVRKEEVLILRSQLVS
  QKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRSSALDYHELNEDGELWLVYEGLKQANRLLE
  SQLQSQKRSHENEAEALRGEIQSLKEENNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLDLMEQLEKQDKT
  VRKLKKQLKVFAKKIGELEVGQMENISPGQIIDEPIRPVNIPRKEKDFQGMLEYKKEDEQKLVKNLILELKPRGV
  AVNLIPGLPAYILFMCVRHADYLNDDQKVRSLLTSTINSIKKVLKKRGDDFETVSFWLSNTCRFLHCLKQYSGEE
  GFMKHNTSRQNEHCLTNFDLAEYRQVLSDLAIQIYQQLVRVLENILQPMIVSGMLEHETIQGVSGVKPTGLRKRT
  SSIADEGTYTLDSILRQLNSFHSVMCQHGMDPELIKQVVKQMFYIIGAITLNNLLLRKDMCSWSKGMQIRYNVSQ
  LEEWLRDKNLMNSGAKETLEPLIQAAQLLQVKKKTDDDAEAICSMCNALTTAQIVKVLNLYTPVNEFEERVSVSF
  IRTIQMRLRDRKDSPQLLMDAKHIFPVTFPFNPSSLALETIQIPASLGLGFISRV

• Structural information:
  • Protein Domains: (8..6-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (69..76-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (766..78-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR002710  IPR000048  IPR036961  IPR037988  IPR001609   IPR004009  IPR008989  IPR036103  IPR027417  
  • Prosite: PS51126 PS50096 PS51456 PS51844
  • CDD: cd15478 cd01380
  • PDB: 4D07 4J5L 4LLI 4LX1 4LX2 5JCY 5JCZ
  • PDBsum: 4D07 4J5L 4LLI 4LX1 4LX2 5JCY 5JCZ
  • STRING: ENSP00000382177
• Other Databases: GeneCards:  MYO5A  Malacards:  MYO5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000146	microfilament motor activity	IBA	molecular function
GO:0007015	actin filament organization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030050	vesicle transport along actin filament	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030898	actin-dependent ATPase activity	IBA	molecular function
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0032593	insulin-responsive compartment	ISS	cellular component
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099089	establishment of endoplasmic reticulum localization to postsynapse	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0097718	disordered domain specific binding	IEA	molecular function
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0051643	endoplasmic reticulum localization	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0042759	long-chain fatty acid biosynthetic process	IEA	biological process
GO:0042641	actomyosin	IEA	cellular component
GO:0042552	myelination	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032593	insulin-responsive compartment	IEA	cellular component
GO:0032402	melanosome transport	IEA	biological process
GO:0032400	melanosome localization	IEA	biological process
GO:0031987	locomotion involved in locomotory behavior	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0030073	insulin secretion	IEA	biological process
GO:0030048	actin filament-based movement	IEA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0000146	microfilament motor activity	IEA	molecular function
GO:0048820	hair follicle maturation	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0042476	odontogenesis	IEA	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0042438	melanin biosynthetic process	IEA	biological process
GO:0035371	microtubule plus-end	IEA	cellular component
GO:0032252	secretory granule localization	IEA	biological process
GO:0031585	regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0016461	unconventional myosin complex	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0006582	melanin metabolic process	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0032433	filopodium tip	IDA	cellular component
GO:0005770	late endosome	IDA	colocalizes with
GO:0031982	vesicle	IDA	colocalizes with
GO:0055037	recycling endosome	IDA	colocalizes with
GO:0005764	lysosome	IDA	colocalizes with
GO:0005783	endoplasmic reticulum	IDA	colocalizes with
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	colocalizes with
GO:0005777	peroxisome	IDA	colocalizes with
GO:0005884	actin filament	IDA	colocalizes with
GO:0016020	membrane	IDA	cellular component
GO:0042470	melanosome	IDA	cellular component
GO:0043005	neuron projection	NAS	cellular component
GO:0032402	melanosome transport	NAS	biological process
GO:0000146	microfilament motor activity	NAS	molecular function
GO:0030050	vesicle transport along actin filament	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030426	growth cone	NAS	cellular component
GO:1903358	regulation of Golgi organization	IMP	NOT|biological process
GO:0016020	membrane	HDA	cellular component
GO:0030048	actin filament-based movement	NAS	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0006892	post-Golgi vesicle-mediated transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Griscelli syndrome	KEGG:H02022
Other phagocyte defects	KEGG:H00101
Griscelli syndrome	KEGG:H02022
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)