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MYO5A (myosin VA)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4644
Gene nameGene Name - the full gene name approved by the HGNC.
Myosin VA
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MYO5A
SynonymsGene synonyms aliases
GS1, MYH12, MYO5, MYR12
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Motor proteins
Pathogenic Escherichia coli infection
  Regulation of actin dynamics for phagocytic cup formation
FCGR3A-mediated phagocytosis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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, rs769021352, rs756071120, rs140470472, rs766575263 12148598, 12897212, 9207796
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075
Age-related macular degeneration Age related macular degeneration rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475
Unknown
Disease name Disease term dbSNP ID References
Acrocephalopolydactyly Acrocephalopolydactylous Dysplasia
Cerebellar cortical atrophy Cerebellar cortical atrophy
Cerebellar hypoplasia Cerebellar Hypoplasia
Cerebral cortical hemiatrophy Cerebral cortical hemiatrophy

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