Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations P-body
BulkPerturb-seq

Description

Ensembl ID ENSG00000197535 Gene ID 4644 Accession 7602
Symbol MYO5A Alias GS1;MYO5;MYH12;MYR12 Full Name myosin VA
Status Confidence Length 221852 bases Strand Minus strand
Position 15 : 52307281 - 52529132 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
17263875 Androgen responsive intronic non-coding RNAs. Rodrigo Louro 2007-01-30 BMC biology

Transcripts

Name Transcript ID bp Protein Translation ID
MYO5A-204 ENST00000399231 12227 1855aa ENSP00000382177
MYO5A-201 ENST00000356338 12010 1853aa ENSP00000348693
MYO5A-205 ENST00000399233 12130 1880aa ENSP00000382179
MYO5A-222 ENST00000687574 12223 1828aa ENSP00000510312
MYO5A-250 ENST00000692874 8886 No protein -
MYO5A-217 ENST00000686603 8220 No protein -
MYO5A-218 ENST00000686659 7467 No protein -
MYO5A-233 ENST00000689601 5542 No protein -
MYO5A-227 ENST00000688074 4160 1064aa ENSP00000509404
MYO5A-208 ENST00000553916 6186 1841aa ENSP00000451109
MYO5A-215 ENST00000686166 3753 No protein -
MYO5A-220 ENST00000686989 6423 No protein -
MYO5A-230 ENST00000688798 2490 195aa ENSP00000509340
MYO5A-248 ENST00000692646 4097 1062aa ENSP00000510243
MYO5A-229 ENST00000688792 4236 No protein -
MYO5A-209 ENST00000556196 5913 47aa ENSP00000451178
MYO5A-216 ENST00000686171 2288 143aa ENSP00000509118
MYO5A-221 ENST00000687172 7886 No protein -
MYO5A-228 ENST00000688361 2064 No protein -
MYO5A-239 ENST00000690802 1695 No protein -
MYO5A-202 ENST00000399228 2622 267aa ENSP00000382174
MYO5A-212 ENST00000685194 3871 1040aa ENSP00000509314
MYO5A-206 ENST00000465290 1840 No protein -
MYO5A-247 ENST00000692556 5579 1852aa ENSP00000510378
MYO5A-203 ENST00000399229 2169 722aa ENSP00000382175
MYO5A-214 ENST00000685996 1738 577aa ENSP00000509305
MYO5A-211 ENST00000685053 4266 1317aa ENSP00000510081
MYO5A-235 ENST00000689897 1638 546aa ENSP00000509082
MYO5A-231 ENST00000688841 1527 509aa ENSP00000508514
MYO5A-242 ENST00000691448 1497 499aa ENSP00000508899
MYO5A-226 ENST00000688010 5640 No protein -
MYO5A-219 ENST00000686796 2174 No protein -
MYO5A-241 ENST00000691073 3404 No protein -
MYO5A-246 ENST00000692324 723 105aa ENSP00000510665
MYO5A-224 ENST00000687748 2429 694aa ENSP00000509068
MYO5A-223 ENST00000687728 2194 672aa ENSP00000509083
MYO5A-232 ENST00000689526 3300 678aa ENSP00000510068
MYO5A-249 ENST00000692708 1975 356aa ENSP00000509394
MYO5A-234 ENST00000689859 2332 No protein -
MYO5A-207 ENST00000469611 500 No protein -
MYO5A-245 ENST00000692201 4761 No protein -
MYO5A-236 ENST00000690537 1341 No protein -
MYO5A-243 ENST00000691521 3176 No protein -
MYO5A-240 ENST00000691028 1294 355aa ENSP00000509399
MYO5A-244 ENST00000691732 437 73aa ENSP00000510463
MYO5A-238 ENST00000690775 359 63aa ENSP00000509359
MYO5A-251 ENST00000693471 584 103aa ENSP00000509696
MYO5A-225 ENST00000687968 816 205aa ENSP00000509981
MYO5A-210 ENST00000561810 435 No protein -
MYO5A-213 ENST00000685760 788 196aa ENSP00000510616
MYO5A-237 ENST00000690693 806 228aa ENSP00000509721

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
7964Urinalysis7.73635665676305E-617903292
11094Hip2.59134757096585E-717903296
80351Heart Failure2E-623934736

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000146enables microfilament motor activity2IBA,NASHomo_sapiens(9606)Function
GO:0001726located_in ruffle1IDAHomo_sapiens(9606)Component
GO:0003723enables RNA binding1HDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005516enables calmodulin binding1IEAHomo_sapiens(9606)Function
GO:0005524enables ATP binding1IEAHomo_sapiens(9606)Function
GO:0005737is_active_in cytoplasm2IBA,IDAHomo_sapiens(9606)Component
GO:0005764colocalizes_with lysosome1IDAHomo_sapiens(9606)Component
GO:0005769colocalizes_with early endosome1IDAHomo_sapiens(9606)Component
GO:0005770colocalizes_with late endosome1IDAHomo_sapiens(9606)Component
GO:0005777colocalizes_with peroxisome1IDAHomo_sapiens(9606)Component
GO:0005783colocalizes_with endoplasmic reticulum1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0005884colocalizes_with actin filament1IDAHomo_sapiens(9606)Component
GO:0006892involved_in post-Golgi vesicle-mediated transport1IMPHomo_sapiens(9606)Process
GO:0007015involved_in actin filament organization1IBAHomo_sapiens(9606)Process
GO:0015031involved_in protein transport1IEAHomo_sapiens(9606)Process
GO:0015629is_active_in actin cytoskeleton1IBAHomo_sapiens(9606)Component
GO:0016020located_in membrane2HDA,IDAHomo_sapiens(9606)Component
GO:0016192involved_in vesicle-mediated transport1ISSHomo_sapiens(9606)Process
GO:0016459part_of myosin complex1IEAHomo_sapiens(9606)Component
GO:0030048involved_in actin filament-based movement1NASHomo_sapiens(9606)Process
GO:0030050involved_in vesicle transport along actin filament2IBA,IMPHomo_sapiens(9606)Process
GO:0030426located_in growth cone1NASHomo_sapiens(9606)Component
GO:0031267enables small GTPase binding1IPIHomo_sapiens(9606)Function
GO:0031982colocalizes_with vesicle1IDAHomo_sapiens(9606)Component
GO:0032402involved_in melanosome transport1NASHomo_sapiens(9606)Process
GO:0032433located_in filopodium tip1IDAHomo_sapiens(9606)Component
GO:0032593located_in insulin-responsive compartment1ISSHomo_sapiens(9606)Component
GO:0032869involved_in cellular response to insulin stimulus1ISSHomo_sapiens(9606)Process
GO:0042470located_in melanosome1IDAHomo_sapiens(9606)Component
GO:0043005located_in neuron projection1NASHomo_sapiens(9606)Component
GO:0051015enables actin filament binding1IBAHomo_sapiens(9606)Function
GO:0055037colocalizes_with recycling endosome1IDAHomo_sapiens(9606)Component
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0072659involved_in protein localization to plasma membrane1ISSHomo_sapiens(9606)Process
GO:1903358NOT involved_in regulation of Golgi organization1IMPHomo_sapiens(9606)Process

Expression