Gene table of MYO5A : myosin VA

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYO5A	OMIM link	Number of associated genes	genes
PS214450	GRISCELLI SYNDROME	ClinVar, OMIM	link to OMIM	3	MYO5A, MLPH, RAB27A

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Annotation of the gene MYO5A

Associated genes in ENSEMBL

ENSG00000197535

Associated proteins - SwissProt Accession ID

Q9Y4I1

Associated PDB IDs

Cytogenetic Band

15q21.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Insulin processing	R-HSA-264876	8.28
Fcgamma receptor (FCGR) dependent phagocytosis	R-HSA-2029480	5.07
Regulation of actin dynamics for phagocytic cup formation	R-HSA-2029482	5.23
Innate Immune System	R-HSA-168249	3.17
Immune System	R-HSA-168256	2.37
Peptide hormone metabolism	R-HSA-2980736	6.61
Membrane Trafficking	R-HSA-199991	5.26
Translocation of GLUT4 to the plasma membrane	R-HSA-1445148	6.77
Metabolism of proteins	R-HSA-392499	3.41
Vesicle-mediated transport	R-HSA-5653656	4.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
microfilament motor activity	GO:0000146	6.65
nucleoside phosphate binding	GO:1901265	1.96
ion binding	GO:0043167	1.36
actin binding	GO:0003779	3.74
calcium ion binding	GO:0005509	3.17
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
motor activity	GO:0003774	4.81
ATP binding	GO:0005524	2.43
calmodulin binding	GO:0005516	4.55
hydrolase activity	GO:0016787	1.9
Rab GTPase binding	GO:0017137	4.96
poly(A) RNA binding	GO:0044822	2.69
nucleoside-triphosphatase activity	GO:0017111	3.09
actin filament binding	GO:0051015	4.93
Ras GTPase binding	GO:0017016	4.2
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
cytoskeletal protein binding	GO:0008092	3.02
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19