MYO5A
entrez
4644
canonical
uniprot
Q9Y4I1
canonical
ensembl
ENSG00000197535
resolver
ensp
ENSP00000348693
resolver
ensp
ENSP00000382177
resolver
ensp
ENSP00000382179
resolver
ensp
ENSP00000451109
resolver
ensp
ENSP00000510312
resolver
ensp
ENSP00000510378
resolver
ensp
ENSP00000694270
resolver
enst
ENST00000356338
resolver
enst
ENST00000692556
resolver
genesymbol
MYO5A
resolver
genesymbol_syn
MYH12
resolver
hgnc
HGNC:7602
resolver
uniprot
A0A8I5KTF1
resolver
uniprot
A0A8J8YWI7
resolver
uniprot
A8CDT9
resolver
uniprot
A8MZC5
resolver
uniprot
O60653
resolver
uniprot
Q07902
resolver
uniprot
Q16249
resolver
uniprot
Q9UE30
resolver
uniprot
Q9UE31
resolver
uniprot
Q9UES4
resolver
uniprot_entry
A0A8I5KTF1_HUMAN
resolver
uniprot_entry
A0A8J8YWI7_HUMAN
resolver
uniprot_entry
A8CDT9_HUMAN
resolver
uniprot_entry
MYO5A_HUMAN
resolver
uniprot_entry
Q9UES4_HUMAN
resolver
uniprot_sec
A8MZC5
resolver
uniprot_sec
O60653
resolver
uniprot_sec
Q07902
resolver
uniprot_sec
Q16249
resolver
uniprot_sec
Q9UE30
resolver
uniprot_sec
Q9UE31
resolver
amino_acid_sequence
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLRVRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYFATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIFCELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEKPRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKEHKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVLSDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAKFLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMMAKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQEEIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQNLLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQVMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELDVRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRSSALDYHELNEDGELWLVYEGLKQANRLLESQLQSQKRSHENEAEALRGEIQSLKEENNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLDLMEQLEKQDKTVRKLKKQLKVFAKKIGELEVGQMENISPGQIIDEPIRPVNIPRKEKDFQGMLEYKKEDEQKLVKNLILELKPRGVAVNLIPGLPAYILFMCVRHADYLNDDQKVRSLLTSTINSIKKVLKKRGDDFETVSFWLSNTCRFLHCLKQYSGEEGFMKHNTSRQNEHCLTNFDLAEYRQVLSDLAIQIYQQLVRVLENILQPMIVSGMLEHETIQGVSGVKPTGLRKRTSSIADEGTYTLDSILRQLNSFHSVMCQHGMDPELIKQVVKQMFYIIGAITLNNLLLRKDMCSWSKGMQIRYNVSQLEEWLRDKNLMNSGAKETLEPLIQAAQLLQVKKKTDDDAEAICSMCNALTTAQIVKVLNLYTPVNEFEERVSVSFIRTIQMRLRDRKDSPQLLMDAKHIFPVTFPFNPSSLALETIQIPASLGLGFISRV
uniprot
proteins
disease_involvement
DISEASE: Griscelli syndrome 1 (GS1) [MIM:214450]: Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities. {ECO:0000269|PubMed:10704277, ECO:0000269|PubMed:12058346, ECO:0000269|PubMed:12897212}. Note=The disease is caused by variants affecting the gene represented in this entry. Some patients who have MYO5A pathogenic variants and originally diagnosed with Griscelli syndrome 1 may rather have Elejalde syndrome. {ECO:0000269|PubMed:12058346}.
uniprot
proteins
function
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 in melanosome transport. Also mediates the transport of vesicles to the plasma membrane (By similarity). May also be required for some polarization process involved in dendrite formation (By similarity). {ECO:0000250|UniProtKB:Q99104, ECO:0000250|UniProtKB:Q9QYF3, ECO:0000269|PubMed:10448864}.
uniprot
proteins
mass_dalton
215405
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10448864
uniprot
proteins
pubmed
10704277
uniprot
proteins
pubmed
10733681
uniprot
proteins
pubmed
12058346
uniprot
proteins
pubmed
12062444
uniprot
proteins
pubmed
12897212
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22908308
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7835087
uniprot
proteins
pubmed
8188282
uniprot
proteins
pubmed
9207796
uniprot
proteins
sequence_length
1855
uniprot
proteins