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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO5A Gene

protein-coding   GIFtS: 63
GCID: GC15M052599

Myosin VA (Heavy Chain 12, Myoxin)

(Previous names: myosin VA (heavy polypeptide 12, myoxin))
(Previous symbol: MYH12)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin VA (Heavy Chain 12, Myoxin)1 2     Myosin VA (Heavy Polypeptide 12, Myoxin)1
MYH121 2 3 5     MYO52
Myosin Heavy Chain 121 3     MYR122
Myosin V1 2     Myosin, Heavy Polypeptide Kinase2
myoxin1 2     myosin-122
Dilute Myosin Heavy Chain, Non-Muscle2 3     myosin-Va2
GS12 5     Unconventional Myosin-Va2
Heavy Polypeptide Kinase1     Myosin-123
myosin1     Myoxin3

External Ids:    HGNC: 76021   Entrez Gene: 46442   Ensembl: ENSG000001975357   OMIM: 1607775   UniProtKB: Q9Y4I13   

Export aliases for MYO5A gene to outside databases

Previous GC identifers: GC15M048163 GC15M045652 GC15M050183 GC15M050321 GC15M050392 GC15M029430


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO5A 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 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)

GeneCards Summary for MYO5A Gene: 
MYO5A (myosin VA (heavy chain 12, myoxin)) is a protein-coding gene. Diseases associated with MYO5A include griscelli syndrome, and griscelli syndrome type 1, and among its related super-pathways are Antioxidant Action of Vitamin-C and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include calmodulin binding and calcium ion binding. An important paralog of this gene is MYO3A.

UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1
Function: 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

Gene Wiki entry for MYO5A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO5A gene promoter:
         Cart-1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO5A promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO5A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21

MYO5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO5A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M052599:  view genomic region     (about GC identifiers)

Start:
52,599,480 bp from pter      End:
52,821,247 bp from pter
Size:
221,768 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1 (See protein sequence)
Recommended Name: Unconventional myosin-Va  
Size: 1855 amino acids; 215405 Da
Subunit: May be a homodimer, which associates with multiple calmodulin or myosin light chains. Binds MLPH and
MYRIP. Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity).
Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles
Secondary accessions: A8MZC5 O60653 Q07902 Q16249 Q9UE30 Q9UE31
Alternative splicing: 3 isoforms:  Q9Y4I1-1   Q9Y4I1-2   Q9Y4I1-3   

Explore the universe of human proteins at neXtProt for MYO5A: NX_Q9Y4I1

Explore proteomics data for MYO5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4I1

  • MYO5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO5A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000250.3  NP_001135967.1  

    ENSEMBL proteins: 
     ENSP00000382177   ENSP00000348693   ENSP00000451109   ENSP00000382175   ENSP00000382174  
     ENSP00000458016   ENSP00000451178   ENSP00000382179   ENSP00000350945  
    Reactome Protein details: Q9Y4I1
    Human Recombinant Protein Products for MYO5A: 
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    Cloud-Clone Corp. Proteins for MYO5A 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA9852149
    GO:0001750photoreceptor outer segment IEA--
    GO:0005737cytoplasm IDA9852149
    GO:0005794Golgi apparatus IEA--
    GO:0005882intermediate filament IEA--

    MYO5A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYOV: Myosins / Myosin superfamily : Class V

    5 InterPro protein domains:
     IPR018444 Dil_domain
     IPR002710 Dilute
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y4I1

    ProtoNet protein and cluster: Q9Y4I1

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002710 Dilute (DIL) domain


    UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1
    Similarity: Contains 1 dilute domain
    Similarity: Contains 6 IQ domains
    Similarity: Contains 1 myosin head-like domain


    MYO5A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO5A_HUMAN, Q9Y4I1
    Function: 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

         Genatlas biochemistry entry for MYO5A:
    myosin 5A,unconventional,apparently non filamentous,processive motor protein,expressed in non muscle
    tissues,moving vesicles on actin tracks through a characteristic cycle of interaction with actin,the rate
    limiting step of the cycle being the ADP release,also involved in melanogenesis

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity NAS10448864
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    MYO5A for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 51 alleles(MGI details for Myo5a):
     behavior/neurological  craniofacial  growth/size  hearing/vestibular/ear  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 
     nervous system  normal  pigmentation  vision/eye 

    MYO5A for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYO5A About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Insulin Processing
    Peptide hormone metabolism0.39
    Insulin Processing0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MYO5A
        Cytoplasmic microtubules

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO5A (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    5/9        Reactome Pathways for MYO5A (see all 9)
        Membrane Trafficking
    Insulin Processing
    Translocation of GLUT4 to the Plasma Membrane
    Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation



    MYO5A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYO5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for MYO5A (Q9Y4I12, 3 ENSP000003821774) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLPHQ9BV362, 3, ENSP000002646054MINT-3388073 I2D: score=4 STRING: ENSP00000264605
    RAB27AP511592, 3, ENSP000003377614MINT-3388073 I2D: score=3 STRING: ENSP00000337761
    DYNLL1P631673, ENSP000002425774I2D: score=4 STRING: ENSP00000242577
    TRIM2Q9C0403, ENSP000003396594I2D: score=3 STRING: ENSP00000339659
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0006582melanin metabolic process ----
    GO:0006810transport NAS11980908
    GO:0006887exocytosis IEA--
    GO:0007268synaptic transmission IEA--

    MYO5A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYO5A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MYO5A

    10 Novoseek inferred chemical compound relationships for MYO5A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 74.1 2 11805840 (1), 18201966 (1)
    adp 68.4 35 15579901 (4), 19506755 (3), 10969013 (2), 19134468 (2) (see all 17)
    mant-adp 64.5 1 15952789 (1)
    atp 58.5 25 11517216 (4), 18851416 (2), 20338849 (2), 12791999 (1) (see all 19)
    2,3-butanedione monoxime 48.1 2 12630704 (1)
    pyrene 28.6 4 11517216 (1), 16921171 (1), 15952789 (1)
    calcium 3.5 23 17562702 (4), 18060865 (3), 15007063 (2), 11517216 (2) (see all 10)
    glucose 1.52 3 17515613 (2)
    magnesium 0 5 15579901 (3), 10882730 (1), 15952789 (1)
    sucrose 0 2 12675905 (1), 15051957 (1)

    Search CenterWatch for drugs/clinical trials and news about MYO5A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYO5A gene (2 alternative transcripts): 
    NM_000259.3  NM_001142495.1  

    Unigene Cluster for MYO5A:

    Myosin VA (heavy chain 12, myoxin)
    Hs.21213  [show with all ESTs]
    Unigene Representative Sequence: NM_000259
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399231(uc010ugd.1 uc002aby.2 uc002abx.3) ENST00000356338
    ENST00000553916(uc002abz.1 uc002acb.1) ENST00000399229 ENST00000465290
    ENST00000399228(uc002acc.1) ENST00000568914(uc002aca.1) ENST00000556196
    ENST00000469611 ENST00000561810 ENST00000399233(uc010uge.1) ENST00000358212

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209487.1 AB209505.1 AB290180.1 AF055459.1 AF090424.1 AF090425.1 AF090426.1 AF090427.1 
    AF090428.1 AK057146.1 AK090859.1 AK124898.1 AK303660.1 AK307600.1 EU921839.1 S74799.1 
    U90942.1 Y07759.1 

    13 DOTS entries:

    DT.215648  DT.453035  DT.92429873  DT.91696302  DT.95374224  DT.75123177  DT.121059572  DT.121059595 
    DT.95322188  DT.97800816  DT.100734002  DT.86859395  DT.95263851 

    24/193 AceView cDNA sequences (see all 193):

    BX104592 AI809249 AF090425 AL708207 AA326532 BU738571 AI355936 BX104390 
    AA384247 AA883640 BX115258 CB137614 AL121283 AI828249 BQ187213 Z40946 
    BX954877 AK124898 BQ428290 AI684468 BP362149 BM758672 CF138482 BX094384 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MYO5A (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39
    SP1:                                -                 -                                                         
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                -                                                                           


    ECgene alternative splicing isoforms for MYO5A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTTTCACT
    MYO5A Expression
    About this image


    See MYO5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO5A

    SOURCE GeneReport for Unigene cluster: Hs.21213

    UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1
    Tissue specificity: Detected in melanocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MYO5A gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo5a1 , 5 myosin VA1, 5 90.5(n)1
    97.1(a)1
      9 (42.26 cM)5
    179181  NM_010864.21  NP_034994.21 
     750710155 
    chicken
    (Gallus gallus)
    Aves MYO5A1 myosin VA (heavy chain 12, myoxin) 81.11(n)
    91.96(a)
      396237  NM_205300.1  NP_990631.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYO5A6
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343479.1(102736-166029)
    African clawed frog
    (Xenopus laevis)
    Amphibia myo5a-prov2 myosin VA (heavy polypeptide 12, myoxin) 78.47(n)    BC045050.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myo5aa1 myosin VAa 71.66(n)
    79.85(a)
      562188  NM_001080959.2  NP_001074428.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta didum1 , 3 myosin ATPase3
    dilute class unconventional myosin1
    39(a)
    (best of 2)3
    50.29(n)1
    42.99(a)1
      2 43D33
    356801  NM_165535.11  NP_724569.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hum-21 , 3 Protein HUM-21 35(a)3
    47.79(n)1
    40.05(a)1
      V(9388744-9402300)3
    1793211  NM_073032.61  NP_505433.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO26
    MYO46
    One of two type V myosin motors (along with MYO4) ...
    One of two type V myosin motors (along with MYO2) ...
    35(a)
    33(a)
    many ↔ many
    many ↔ many
    XV(925721-930445)
    I(87855-92270)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XID1 myosin XI D 49.21(n)
    40.14(a)
      817886  NM_128883.2  NP_180882.2 
    rice
    (Oryza sativa)
    Liliopsida Os.48552 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 77.43(n)    AK122154.1 


    ENSEMBL Gene Tree for MYO5A (if available)
    TreeFam Gene Tree for MYO5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO5A gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO7A2  MYO9B2  MYO7B2  PLEKHH32  
    MYO5B2  MYO62  MYO3B2  
    18/23 SIMAP similar genes for MYO5A using alignment to 8 protein entries:     MYO5A_HUMAN (see all proteins) (see all similar genes):
    MYO5C    MYO5B    MYH11    MYO10    MYO1E    MYO1B
    MYO1D    MYH10    MYO1G    MYH2    MYO1A    MYH9
    DKFZp686A01173    FLJ00395    MYO1F variant protein    MYO1F    MYO19    MYH14

    MYO5A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5039 SNPs in MYO5A are shown (see all 5039)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1440430201,2
    C--29464909(+) ATTTC-/AATCTT 2 -- int10--------
    rs110708931,2
    C,F,A,H--29479685(+) TTTTTT/ATTTTT 2 -- int1 trp31Minor allele frequency- A:0.50NA 8
    rs80278451,2
    C,A,H--29479693(+) TTTTTT/ATTTTC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs3756999811,2
    C--29479693(+) TTTTT-/ATTTTC 2 -- int10--------
    rs1504512191,2
    C--29496826(+) AATAA-/AAAT  
            
    AAATA
    2 -- int10--------
    rs615050961,2
    C--29527407(+) AAAAA-/A/AAA 
            
    GTTAT
    2 -- int11NA 2
    rs711301611,2
    C--29552816(-) TTGTTTTTG/-  
            
    TTTTT
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs3703301161,2
    C--29572071(+) CTTTT-/CTTG  
      TCTTTC
    TTTTT
    2 -- int10--------
    rs58126111,2
    C,F--29619251(+) AAATGA/-AAAAA 2 -- int1 trp33Minor allele frequency- -:0.50NA CSA 6
    rs351451851,2
    C--29620917(+) GTCTC-/AAAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for MYO5A (52599480 - 52821247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MYO5A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749698CNV Deletion23290073
    esv2749695CNV Deletion23290073
    esv273448CNV Insertion20981092
    nsv507781CNV Insertion20534489
    esv272006CNV Insertion20981092
    nsv819139CNV Loss19587683
    nsv471245CNV Gain18288195
    esv4732CNV Complex18987735
    esv259982OTHER Complex20981092


    Human Gene Mutation Database (HGMD): MYO5A

    Locus Specific Mutation Databases (LSDB): MYO5A
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MYO5A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 160777   
    OMIM disorders: 214450  
    UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1
  • 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 mental
    retardation, without apparent immune abnormalities. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Griscelli syndrome 3 (GS3) [MIM:609227]: Rare 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Elejalde syndrome (ELEJAS) [MIM:256710]: Autosomal 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/21 diseases for MYO5A (see all 21):    About MalaCards
    griscelli syndrome    griscelli syndrome type 1    neuroectodermal melanolysosomal disease    griscelli syndrome type 3
    piebaldism    sialuria    ocular albinism    hemophagocytic lymphohistiocytosis
    cerebrovascular accident    neurologic diseases    albinism    hypotonia
    melanoma    mental retardation    herpes simplex    diabetes mellitus
    thyroiditis    lung cancer    pancreatitis    endotheliitis


    MYO5A for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for MYO5A gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    griscelli syndrome, type 1 88.3 3 17185506 (2), 15316067 (1)
    piebaldism 78.7 1 16121806 (1)
    melanoma b16 12.4 2 9348537 (1), 12531900 (1)
    metastatic cancer 7.45 2 19521958 (2)
    melanoma 5.87 5 12221080 (1), 9348537 (1), 10529054 (1), 11921164 (1) (see all 5)
    stroke 4.35 6 11706052 (2), 20418880 (1), 12386339 (1), 12499355 (1) (see all 5)
    tumors 0.676 1 17941720 (1)
    cancer 0.384 5 19521958 (4)
    neurological disorders 0 2 17185506 (2)
    mental retardation 0 2 12147688 (1), 16121806 (1)

    Genetic Association Database (GAD): MYO5A
    Human Genome Epidemiology (HuGE) Navigator: MYO5A (7 documents)

    Export disorders for MYO5A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYO5A gene, integrated from 9 sources (see all 236):
    (articles sorted by number of sources associating them with MYO5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. (PubMed id 8188282)1, 2, 3, 9 Engle L.J. and Kennett R.H. (1994)
    2. Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (PubMed id 10733681)1, 2, 4, 9 Lambert J.... Messiaen L. (2000)
    3. Myosin-V is a processive actin-based motor. (PubMed id 10448864)1, 2, 9 Mehta A.D....Cheney R.E. (1999)
    4. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    7. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    8. FGFR2 is associated with hair thickness in Asian popu lations. (PubMed id 19590514)1, 4 Fujimoto A....Ohashi J. (2009)
    9. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4 Fernandez L.P....Ribas G. (2009)
    10. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4644 HGNC: 7602 AceView: MYO5A Ensembl:ENSG00000197535 euGenes: HUgn4644
    ECgene: MYO5A H-InvDB: MYO5A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYO5A Pharmacogenomics, SNPs, Pathways
    MYO5Abasehttp://bioinf.uta.fi/MYO5Abase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO5A gene:
    Search GeneIP for patents involving MYO5A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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