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Entry version 193 (18 Sep 2019)
Sequence version 2 (18 May 2010)
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Protein

Unconventional myosin-Va

Gene

MYO5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi163 – 170ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Myosin
Biological processProtein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-264876 Insulin processing

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Unconventional myosin-Va
Alternative name(s):
Dilute myosin heavy chain, non-muscle
Myosin heavy chain 12
Myosin-12
Myoxin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYO5A
Synonyms:MYH12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7602 MYO5A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
160777 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y4I1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Griscelli syndrome 1 (GS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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 mental retardation, without apparent immune abnormalities.
Related information in OMIM
Griscelli syndrome 3 (GS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.
Related information in OMIM
Elejalde syndrome (ELEJAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
4644

MalaCards human disease database

More...
MalaCardsi
MYO5A
MIMi214450 phenotype
256710 phenotype
609227 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197535

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79476 Griscelli syndrome type 1
79478 Griscelli syndrome type 3
33445 Neuroectodermal melanolysosomal disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31407

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYO5A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439234

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001234562 – 1855Unconventional myosin-VaAdd BLAST1854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei1032PhosphothreonineBy similarity1
Modified residuei1452PhosphoserineCombined sources1
Modified residuei1652PhosphoserineCombined sources1
Modified residuei1760PhosphothreonineSequence analysis1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y4I1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y4I1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y4I1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y4I1

PeptideAtlas

More...
PeptideAtlasi
Q9Y4I1

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y4I1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86207 [Q9Y4I1-1]
86208 [Q9Y4I1-2]
86209 [Q9Y4I1-3]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q9Y4I1

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y4I1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y4I1

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9Y4I1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in melanocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197535 Expressed in 224 organ(s), highest expression level in dorsolateral prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y4I1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y4I1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA001356

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May be a homodimer, which associates with multiple calmodulin or myosin light chains (By similarity).

Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity).

Interacts with MLPH (PubMed:12062444).

Interacts with SYTL4 (By similarity).

Interacts with MYRIP (By similarity).

Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles (PubMed:22908308).

Interacts with FMR1; this interaction occurs in association with polyribosome (By similarity).

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110728, 91 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y4I1

Protein interaction database and analysis system

More...
IntActi
Q9Y4I1, 52 interactors

Molecular INTeraction database

More...
MINTi
Q9Y4I1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000382177

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11855
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9Y4I1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini8 – 60Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST53
Domaini69 – 763Myosin motorPROSITE-ProRule annotationAdd BLAST695
Domaini766 – 788IQ 1PROSITE-ProRule annotationAdd BLAST23
Domaini789 – 818IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini814 – 836IQ 3PROSITE-ProRule annotationAdd BLAST23
Domaini837 – 861IQ 4PROSITE-ProRule annotationAdd BLAST25
Domaini862 – 883IQ 5PROSITE-ProRule annotationAdd BLAST22
Domaini885 – 914IQ 6PROSITE-ProRule annotationAdd BLAST30
Domaini1534 – 1810DilutePROSITE-ProRule annotationAdd BLAST277

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni643 – 665Actin-bindingSequence analysisAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili914 – 1237Sequence analysisAdd BLAST324
Coiled coili1338 – 1445Sequence analysisAdd BLAST108

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0160 Eukaryota
KOG0161 Eukaryota
COG5022 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155347

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y4I1

KEGG Orthology (KO)

More...
KOi
K10357

Identification of Orthologs from Complete Genome Data

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OMAi
DQDKYQF

Database of Orthologous Groups

More...
OrthoDBi
1528782at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y4I1

TreeFam database of animal gene trees

More...
TreeFami
TF328771

Family and domain databases

Conserved Domains Database

More...
CDDi
cd15478 Myo5a_CBD, 1 hit
cd01380 MYSc_Myo5, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.30.360, 1 hit
3.40.850.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002710 Dilute_dom
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR037988 Myo5a_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036103 MYSc_Myo5
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01843 DIL, 1 hit
PF00612 IQ, 6 hits
PF00063 Myosin_head, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00193 MYOSINHEAVY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01132 DIL, 1 hit
SM00015 IQ, 6 hits
SM00242 MYSc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51126 DILUTE, 1 hit
PS50096 IQ, 6 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y4I1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASELYTKF ARVWIPDPEE VWKSAELLKD YKPGDKVLLL HLEEGKDLEY
60 70 80 90 100
HLDPKTKELP HLRNPDILVG ENDLTALSYL HEPAVLHNLR VRFIDSKLIY
110 120 130 140 150
TYCGIVLVAI NPYEQLPIYG EDIINAYSGQ NMGDMDPHIF AVAEEAYKQM
160 170 180 190 200
ARDERNQSII VSGESGAGKT VSAKYAMRYF ATVSGSASEA NVEEKVLASN
210 220 230 240 250
PIMESIGNAK TTRNDNSSRF GKYIEIGFDK RYRIIGANMR TYLLEKSRVV
260 270 280 290 300
FQAEEERNYH IFYQLCASAK LPEFKMLRLG NADNFNYTKQ GGSPVIEGVD
310 320 330 340 350
DAKEMAHTRQ ACTLLGISES HQMGIFRILA GILHLGNVGF TSRDADSCTI
360 370 380 390 400
PPKHEPLCIF CELMGVDYEE MCHWLCHRKL ATATETYIKP ISKLQATNAR
410 420 430 440 450
DALAKHIYAK LFNWIVDNVN QALHSAVKQH SFIGVLDIYG FETFEINSFE
460 470 480 490 500
QFCINYANEK LQQQFNMHVF KLEQEEYMKE QIPWTLIDFY DNQPCINLIE
510 520 530 540 550
SKLGILDLLD EECKMPKGTD DTWAQKLYNT HLNKCALFEK PRLSNKAFII
560 570 580 590 600
QHFADKVEYQ CEGFLEKNKD TVFEEQIKVL KSSKFKMLPE LFQDDEKAIS
610 620 630 640 650
PTSATSSGRT PLTRTPAKPT KGRPGQMAKE HKKTVGHQFR NSLHLLMETL
660 670 680 690 700
NATTPHYVRC IKPNDFKFPF TFDEKRAVQQ LRACGVLETI RISAAGFPSR
710 720 730 740 750
WTYQEFFSRY RVLMKQKDVL SDRKQTCKNV LEKLILDKDK YQFGKTKIFF
760 770 780 790 800
RAGQVAYLEK LRADKLRAAC IRIQKTIRGW LLRKKYLRMR KAAITMQRYV
810 820 830 840 850
RGYQARCYAK FLRRTKAATI IQKYWRMYVV RRRYKIRRAA TIVLQSYLRG
860 870 880 890 900
FLARNRYRKI LREHKAVIIQ KRVRGWLART HYKRSMHAII YLQCCFRRMM
910 920 930 940 950
AKRELKKLKI EARSVERYKK LHIGMENKIM QLQRKVDEQN KDYKCLVEKL
960 970 980 990 1000
TNLEGIYNSE TEKLRSDLER LQLSEEEAKV ATGRVLSLQE EIAKLRKDLE
1010 1020 1030 1040 1050
QTRSEKKCIE EHADRYKQET EQLVSNLKEE NTLLKQEKEA LNHRIVQQAK
1060 1070 1080 1090 1100
EMTETMEKKL VEETKQLELD LNDERLRYQN LLNEFSRLEE RYDDLKEEMT
1110 1120 1130 1140 1150
LMVHVPKPGH KRTDSTHSSN ESEYIFSSEI AEMEDIPSRT EEPSEKKVPL
1160 1170 1180 1190 1200
DMSLFLKLQK RVTELEQEKQ VMQDELDRKE EQVLRSKAKE EERPQIRGAE
1210 1220 1230 1240 1250
LEYESLKRQE LESENKKLKN ELNELRKALS EKSAPEVTAP GAPAYRVLME
1260 1270 1280 1290 1300
QLTSVSEELD VRKEEVLILR SQLVSQKEAI QPKDDKNTMT DSTILLEDVQ
1310 1320 1330 1340 1350
KMKDKGEIAQ AYIGLKETNR SSALDYHELN EDGELWLVYE GLKQANRLLE
1360 1370 1380 1390 1400
SQLQSQKRSH ENEAEALRGE IQSLKEENNR QQQLLAQNLQ LPPEARIEAS
1410 1420 1430 1440 1450
LQHEITRLTN ENLDLMEQLE KQDKTVRKLK KQLKVFAKKI GELEVGQMEN
1460 1470 1480 1490 1500
ISPGQIIDEP IRPVNIPRKE KDFQGMLEYK KEDEQKLVKN LILELKPRGV
1510 1520 1530 1540 1550
AVNLIPGLPA YILFMCVRHA DYLNDDQKVR SLLTSTINSI KKVLKKRGDD
1560 1570 1580 1590 1600
FETVSFWLSN TCRFLHCLKQ YSGEEGFMKH NTSRQNEHCL TNFDLAEYRQ
1610 1620 1630 1640 1650
VLSDLAIQIY QQLVRVLENI LQPMIVSGML EHETIQGVSG VKPTGLRKRT
1660 1670 1680 1690 1700
SSIADEGTYT LDSILRQLNS FHSVMCQHGM DPELIKQVVK QMFYIIGAIT
1710 1720 1730 1740 1750
LNNLLLRKDM CSWSKGMQIR YNVSQLEEWL RDKNLMNSGA KETLEPLIQA
1760 1770 1780 1790 1800
AQLLQVKKKT DDDAEAICSM CNALTTAQIV KVLNLYTPVN EFEERVSVSF
1810 1820 1830 1840 1850
IRTIQMRLRD RKDSPQLLMD AKHIFPVTFP FNPSSLALET IQIPASLGLG

FISRV
Length:1,855
Mass (Da):215,405
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i78FD3B1D08D90A0A
GO
Isoform 2 (identifier: Q9Y4I1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1321-1347: Missing.

Show »
Length:1,828
Mass (Da):212,273
Checksum:i6C1F609CE0FAC368
GO
Isoform 3 (identifier: Q9Y4I1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1413-1413: L → LYFEELYADDPKKYQSYRISLYKRMI

Show »
Length:1,880
Mass (Da):218,608
Checksum:i86CCDF8124408640
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W6H6F8W6H6_HUMAN
Unconventional myosin-Va
MYO5A
1,855Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V394G3V394_HUMAN
Unconventional myosin-Va
MYO5A
1,853Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WE88F8WE88_HUMAN
Unconventional myosin-Va
MYO5A
1,855Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WY00A0A087WY00_HUMAN
Unconventional myosin-Va
MYO5A
1,828Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3C9G3V3C9_HUMAN
Unconventional myosin-Va
MYO5A
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ERV5E7ERV5_HUMAN
Unconventional myosin-Va
MYO5A
585Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
O95317O95317_HUMAN
Myosin V
MYO5A
231Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q9UES5Q9UES5_HUMAN
Myosin V
MYO5A
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti198A → T in CAA69035 (Ref. 1) Curated1
Sequence conflicti198A → T in CAA69036 (Ref. 1) Curated1
Sequence conflicti198A → T in AAD00702 (PubMed:9207796).Curated1
Sequence conflicti362E → D in CAA69035 (Ref. 1) Curated1
Sequence conflicti362E → D in CAA69036 (Ref. 1) Curated1
Sequence conflicti362E → D in AAD00702 (PubMed:9207796).Curated1
Sequence conflicti668F → L in CAA69035 (Ref. 1) Curated1
Sequence conflicti668F → L in CAA69036 (Ref. 1) Curated1
Sequence conflicti833Missing in CAA80533 (PubMed:8188282).Curated1
Sequence conflicti863E → G in CAA69035 (Ref. 1) Curated1
Sequence conflicti863E → G in CAA69036 (Ref. 1) Curated1
Sequence conflicti922H → R in CAA69035 (Ref. 1) Curated1
Sequence conflicti922H → R in CAA69036 (Ref. 1) Curated1
Sequence conflicti1061V → L in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1089E → Q in CAA80533 (PubMed:8188282).Curated1
Sequence conflicti1177D → E in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1465 – 1477NIPRK…FQGML → SVLCACCVSVTVR in CAA80533 (PubMed:8188282).CuratedAdd BLAST13
Sequence conflicti1471K → N in AAB33211 (PubMed:7835087).Curated1
Sequence conflicti1484E → D in AAB33211 (PubMed:7835087).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_056180627M → T. Corresponds to variant dbSNP:rs16964944EnsemblClinVar.1
Natural variantiVAR_0106451246R → C2 PublicationsCorresponds to variant dbSNP:rs1058219EnsemblClinVar.1
Natural variantiVAR_0561811673S → L. Corresponds to variant dbSNP:rs9282796Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0033511321 – 1347Missing in isoform 2. 3 PublicationsAdd BLAST27
Alternative sequenceiVSP_0033521413L → LYFEELYADDPKKYQSYRIS LYKRMI in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y07759 mRNA Translation: CAA69035.1
Y07759 mRNA Translation: CAA69036.1
U90942 mRNA Translation: AAD00702.1
AC010674 Genomic DNA No translation available.
AC018902 Genomic DNA No translation available.
AC025917 Genomic DNA No translation available.
Z22957 mRNA Translation: CAA80533.1
S74799 mRNA Translation: AAB33211.1
AF055459 mRNA Translation: AAC14188.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42037.1 [Q9Y4I1-1]
CCDS45262.1 [Q9Y4I1-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A53016
A59254
B59254
I52966

NCBI Reference Sequences

More...
RefSeqi
NP_000250.3, NM_000259.3
XP_005254454.1, XM_005254397.3 [Q9Y4I1-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356338; ENSP00000348693; ENSG00000197535 [Q9Y4I1-2]
ENST00000399231; ENSP00000382177; ENSG00000197535 [Q9Y4I1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4644

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4644

UCSC genome browser

More...
UCSCi
uc002abx.5 human [Q9Y4I1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

MYO5Abase

MYO5A mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y07759 mRNA Translation: CAA69035.1
Y07759 mRNA Translation: CAA69036.1
U90942 mRNA Translation: AAD00702.1
AC010674 Genomic DNA No translation available.
AC018902 Genomic DNA No translation available.
AC025917 Genomic DNA No translation available.
Z22957 mRNA Translation: CAA80533.1
S74799 mRNA Translation: AAB33211.1
AF055459 mRNA Translation: AAC14188.1
CCDSiCCDS42037.1 [Q9Y4I1-1]
CCDS45262.1 [Q9Y4I1-2]
PIRiA53016
A59254
B59254
I52966
RefSeqiNP_000250.3, NM_000259.3
XP_005254454.1, XM_005254397.3 [Q9Y4I1-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4D07X-ray1.85B1275-1297[»]
4J5LX-ray2.20A/B1448-1855[»]
4LLIX-ray2.20A/B1467-1855[»]
4LX1X-ray1.87A/B1464-1855[»]
4LX2X-ray1.50A1464-1855[»]
5JCYX-ray1.80A1464-1855[»]
5JCZX-ray2.06B/C/E1464-1855[»]
SMRiQ9Y4I1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110728, 91 interactors
CORUMiQ9Y4I1
IntActiQ9Y4I1, 52 interactors
MINTiQ9Y4I1
STRINGi9606.ENSP00000382177

PTM databases

CarbonylDBiQ9Y4I1
iPTMnetiQ9Y4I1
PhosphoSitePlusiQ9Y4I1
SwissPalmiQ9Y4I1

Polymorphism and mutation databases

BioMutaiMYO5A
DMDMi296439234

Proteomic databases

EPDiQ9Y4I1
jPOSTiQ9Y4I1
MassIVEiQ9Y4I1
PaxDbiQ9Y4I1
PeptideAtlasiQ9Y4I1
PRIDEiQ9Y4I1
ProteomicsDBi86207 [Q9Y4I1-1]
86208 [Q9Y4I1-2]
86209 [Q9Y4I1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356338; ENSP00000348693; ENSG00000197535 [Q9Y4I1-2]
ENST00000399231; ENSP00000382177; ENSG00000197535 [Q9Y4I1-1]
GeneIDi4644
KEGGihsa:4644
UCSCiuc002abx.5 human [Q9Y4I1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4644
DisGeNETi4644

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYO5A
HGNCiHGNC:7602 MYO5A
HPAiHPA001356
MalaCardsiMYO5A
MIMi160777 gene
214450 phenotype
256710 phenotype
609227 phenotype
neXtProtiNX_Q9Y4I1
OpenTargetsiENSG00000197535
Orphaneti79476 Griscelli syndrome type 1
79478 Griscelli syndrome type 3
33445 Neuroectodermal melanolysosomal disease
PharmGKBiPA31407

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0160 Eukaryota
KOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00940000155347
InParanoidiQ9Y4I1
KOiK10357
OMAiDQDKYQF
OrthoDBi1528782at2759
PhylomeDBiQ9Y4I1
TreeFamiTF328771

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-264876 Insulin processing

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MYO5A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MYO5A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4644

Pharos

More...
Pharosi
Q9Y4I1

Protein Ontology

More...
PROi
PR:Q9Y4I1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197535 Expressed in 224 organ(s), highest expression level in dorsolateral prefrontal cortex
ExpressionAtlasiQ9Y4I1 baseline and differential
GenevisibleiQ9Y4I1 HS

Family and domain databases

CDDicd15478 Myo5a_CBD, 1 hit
cd01380 MYSc_Myo5, 1 hit
Gene3Di2.30.30.360, 1 hit
3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR002710 Dilute_dom
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR037988 Myo5a_CBD
IPR001609 Myosin_head_motor_dom
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR036103 MYSc_Myo5
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01843 DIL, 1 hit
PF00612 IQ, 6 hits
PF00063 Myosin_head, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM01132 DIL, 1 hit
SM00015 IQ, 6 hits
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 3 hits
PROSITEiView protein in PROSITE
PS51126 DILUTE, 1 hit
PS50096 IQ, 6 hits
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYO5A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y4I1
Secondary accession number(s): A8MZC5
, O60653, Q07902, Q16249, Q9UE30, Q9UE31
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: September 18, 2019
This is version 193 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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