Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4644
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin VA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYO5A
Synonyms (NCBI Gene) Gene synonyms aliases
GS1, MYH12, MYO5, MYR12
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GS1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs143298463 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs147898420 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs764371254 G>A Pathogenic Stop gained, coding sequence variant
rs769021352 C>A,T Pathogenic Splice donor variant
rs1114167290 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027083 hsa-miR-103a-3p Sequencing 20371350
MIRT028356 hsa-miR-32-5p Sequencing 20371350
MIRT031724 hsa-miR-16-5p Sequencing 20371350
MIRT035535 hsa-miR-145-5p Luciferase reporter assay 22895360
MIRT035535 hsa-miR-145-5p Luciferase reporter assay 22895360
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IBA 21873635
GO:0000146 Function Microfilament motor activity NAS 10448864
GO:0001726 Component Ruffle IDA 9852149
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 11980908
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
160777 7602 ENSG00000197535
Protein
UniProt ID Q9Y4I1
Protein name Unconventional myosin-Va (Dilute myosin heavy chain, non-muscle) (Myosin heavy chain 12) (Myosin-12) (Myoxin)
Protein function Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function as a motor protein (PubMed:10448864). Involved
PDB 4D07 , 4J5L , 4LLI , 4LX1 , 4LX2 , 5JCY , 5JCZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00063 Myosin_head 71 751 Myosin head (motor domain) Domain
PF00612 IQ 767 787 IQ calmodulin-binding motif Motif
PF00612 IQ 790 810 IQ calmodulin-binding motif Motif
PF00612 IQ 815 835 IQ calmodulin-binding motif Motif
PF00612 IQ 838 858 IQ calmodulin-binding motif Motif
PF00612 IQ 863 883 IQ calmodulin-binding motif Motif
PF00612 IQ 886 906 IQ calmodulin-binding motif Motif
PF01843 DIL 1687 1790 DIL domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in melanocytes.
Sequence
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELP
HLRNPDILVGENDLTALSYLHEPAVLHNLRVRFIDSKLIYTYCGIVLVAINPYEQLPIYG
EDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMR
TYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVD
DAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVN
QALHSAVKQHSFIGVLDIYGFETFEINSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKE
QIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAIS
PTSATSSGRTPLTRTPAKPTKGRPGQMAKEHKKTVGHQFRNSLHLLMETLNATTPHYVRC
IKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFR
AGQVAYLEKLRADKLRAACIRIQKTIRGW
LLRKKYL
RMRKAAITMQRYVRGYQARCYAKFLRRTKAATIIQKYWRMYVVRRRYKIRRAA
TIVLQSYLRGFLARNRYR
KILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELK
KLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSE
TEKLRSDLERLQLSEEEAKVATGRVLSLQEEIAKLRKDLEQTRSEKKCIEEHADRYKQET
EQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRT
EEPSEKKVPLDMSLFLKLQKRVTELEQEKQVMQDELDRKEEQVLRSKAKEEERPQIRGAE
LEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNR
SSALDYHELNEDGELWLVYEGLKQANRLLESQLQSQKRSHENEAEALRGEIQSLKEENNR
QQQLLAQNLQLPPEARIEASLQHEITRLTNENLDLMEQLEKQDKTVRKLKKQLKVFAKKI
GELEVGQMENISPGQIIDEPIRPVNIPRKEKDFQGMLEYKKEDEQKLVKNLILELKPRGV
AVNLIPGLPAYILFMCVRHADYLNDDQKVRSLLTSTINSIKKVLKKRGDDFETVSFWLSN
TCRFLHCLKQYSGEEGFMKHNTSRQNEHCLTNFDLAEYRQVLSDLAIQIYQQLVRVLENI
LQPMIVSGMLEHETIQGVSGVKPTGLRKRTSSIADEGTYTLDSILRQLNSFHSVMCQHGM
DPELIKQVVKQMFYIIGAITLNNLLLRKDMCSWSKGMQIRYNVSQLEEWLRDKNLMNSGA
KETLEPLIQAAQLLQVKKKTDDDAEAICSMCNALTTAQIVKVLNLYTPVN
EFEERVSVSF
IRTIQMRLRDRKDSPQLLMDAKHIFPVTFPFNPSSLALETIQIPASLGLGFISRV
Sequence length 1855
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Motor proteins
Pathogenic Escherichia coli infection
  Regulation of actin dynamics for phagocytic cup formation
FCGR3A-mediated phagocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Griscelli syndrome GRISCELLI SYNDROME, TYPE 3, GRISCELLI SYNDROME, TYPE 1, Griscelli syndrome type 3, Griscelli syndrome type 1 rs119473031, rs28938176, rs1595695268, rs104894498, rs104894499, rs1595700039, rs104894500, rs764371254, rs786205551, rs786205641, rs767481076, rs753966933, rs200956636, rs1555394745, rs770601673
View all (4 more)
12148598, 12897212, 9207796
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Griscelli Syndrome Griscelli syndrome type 3 GenCC
Diabetes Diabetes GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acrocephalopolydactylous Dysplasia Associate 12058346
Albinism Associate 35488210
Breast Neoplasms Associate 36424660
Cardiomyopathy Dilated Associate 33864791
Cardiomyopathy Hypertrophic Associate 33864791
Central Nervous System Diseases Associate 12058346
Colorectal Neoplasms Associate 29024942
Esophageal Squamous Cell Carcinoma Associate 37667251
Glioblastoma Associate 30628650
Griscelli syndrome type 1 Associate 11266474, 18397837