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

MYO1A Gene

protein-coding   GIFtS: 60
GCID: GC12M057422

Myosin IA


(Previous symbols: MYHL, DFNA48)
  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 IA1 2     BBMI2 3
MYHL1 2 3     MIHC2 3
DFNA481 2 5     Myosin, Heavy Polypeptide-Like (100kD)2
Brush Border Myosin I2 3     Unconventional Myosin-Ia2
Myosin I Heavy Chain2 3     BBM-I3

External Ids:    HGNC: 75951   Entrez Gene: 46402   Ensembl: ENSG000001668667   OMIM: 6014785   UniProtKB: Q9UBC53   

Export aliases for MYO1A gene to outside databases

Previous GC identifers: GC12M057397 GC12M057646 GC12M057139 GC12M055709 GC12M055710 GC12M055711 GC12M054460


(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 MYO1A Gene:
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should
not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic
domains characteristic of conventional myosins and are further distinguished from class members by their tail
domains. They function as actin-based molecular motors. Mutations in this gene have been associated with
autosomal dominant deafness. Alternatively spliced variants have been found for this gene. (provided by RefSeq,
Dec 2011)

GeneCards Summary for MYO1A Gene: 
MYO1A (myosin IA) is a protein-coding gene. Diseases associated with MYO1A include deafness, autosomal dominant 48, and dfna48 nonsyndromic hearing loss and deafness, and among its related super-pathways are Antioxidant Action of Vitamin-C and Actin Nucleation and Branching. GO annotations related to this gene include motor activity and actin binding. An important paralog of this gene is MYO1D.

UniProtKB/Swiss-Prot: MYO1A_HUMAN, Q9UBC5
Function: Involved in directing the movement of organelles along actin filaments (Potential)

Gene Wiki entry for MYO1A 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO1A gene promoter:
         COUP-TF   COMP1   NRSF form 1   COUP   Pax-2   Pax-2a   NRSF form 2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO1A promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO1A


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

Entrez Gene cytogenetic band: 12q13-q14   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13-q15

MYO1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO1A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M057422:  view genomic region     (about GC identifiers)

Start:
57,422,301 bp from pter      End:
57,444,982 bp from pter
Size:
22,682 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: MYO1A_HUMAN, Q9UBC5 (See protein sequence)
Recommended Name: Unconventional myosin-Ia  
Size: 1043 amino acids; 118401 Da
Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1
(MYH1)
Secondary accessions: Q9UQD7

Explore the universe of human proteins at neXtProt for MYO1A: NX_Q9UBC5

Explore proteomics data for MYO1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBC5

  • MYO1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO1A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001242970.1  NP_005370.1  

    ENSEMBL proteins: 
     ENSP00000300119   ENSP00000393392   ENSP00000451033   ENSP00000452229   ENSP00000400991  
     ENSP00000440514  

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    Cloud-Clone Corp. Proteins for MYO1A 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA9858156
    GO:0005902microvillus IDA9858156
    GO:0005903brush border IDA9858156
    GO:0009925basal plasma membrane IEA--
    GO:0016323basolateral plasma membrane IDA9858156

    MYO1A 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: 
    MYOI: Myosins / Myosin superfamily : Class I

    4 InterPro protein domains:
     IPR010926 Myosin_tail_2
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBC5

    ProtoNet protein and cluster: Q9UBC5

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB010926 Myosin tail 2


    UniProtKB/Swiss-Prot: MYO1A_HUMAN, Q9UBC5
    Similarity: Contains 3 IQ domains
    Similarity: Contains 1 myosin head-like domain


    MYO1A 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: MYO1A_HUMAN, Q9UBC5
    Function: Involved in directing the movement of organelles along actin filaments (Potential)

         Genatlas biochemistry entry for MYO1A:
    myosin IA,unconventional,apparently non filamentous,homologous to bovine Myo1a

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    MYO1A for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myo1a):
     digestive/alimentary  hearing/vestibular/ear 

    MYO1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myo1atm1Mtys for MYO1A

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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 MYO1A About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    3Fc-GammaR-Mediated Phagocytosis in Macrophages
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    4Rho Family GTPases
    ILK Signaling0.49
    5Sweet Taste Signaling
    Cellular Effects of Sildenafil0.46

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO1A (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYO1A

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

    5/59 Interacting proteins for MYO1A (Q9UBC52, 3 ENSP000003001194) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAZ1BQ9UIG02, 3, ENSP000003424344MINT-1894306 MINT-1894492 I2D: score=1 STRING: ENSP00000342434
    FBLP220872, 3, ENSP000002218014MINT-1894276 I2D: score=1 STRING: ENSP00000221801
    MAP3K3Q997592, 3MINT-48518 I2D: score=2 
    SMARCA5O602642, 3, ENSP000002831314MINT-1894458 MINT-1894414 MINT-1894430 I2D: score=1 STRING: ENSP00000283131
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP12736868
    GO:0030030cell projection organization ----
    GO:0030033microvillus assembly IEA--
    GO:0051648vesicle localization IMP8692943

    MYO1A 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

    MYO1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MYO1A

    10/11 Novoseek inferred chemical compound relationships for MYO1A gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylserine 42.7 8 7728866 (5), 7801806 (1), 9047367 (1)
    mgatp 36.1 1 1885650 (1)
    phospholipid 24.8 8 7728866 (4), 2143194 (1)
    atp 23.9 3 1530945 (1), 9405612 (1)
    citrate 23.7 2 19465554 (1), 10751188 (1)
    adp 23.4 2 7501027 (1), 9405612 (1)
    phosphatidylcholine 18.9 1 9047367 (1)
    calcium 9.14 4 1985037 (2), 9217259 (1), 1885650 (1)
    oxygen 0 1 10751188 (1)
    lipid 0 4 7728866 (1), 9047367 (1)

    Search CenterWatch for drugs/clinical trials and news about MYO1A

    (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 MYO1A gene (2 alternative transcripts): 
    NM_001256041.1  NM_005379.3  

    Unigene Cluster for MYO1A:

    Myosin IA
    Hs.5394  [show with all ESTs]
    Unigene Representative Sequence: NM_001256041
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300119(uc001smw.4 uc009zpd.3) ENST00000442789 ENST00000554234
    ENST00000477864 ENST00000487083 ENST00000476795 ENST00000492945 ENST00000433964
    ENST00000471791 ENST00000544473(uc010sqz.2)
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    Additional mRNA sequence: 

    AF009961.1 AF105424.1 AF127026.1 AK300381.1 AK312431.1 BC059387.1 L29137.1 

    3 DOTS entries:

    DT.70101159  DT.97838580  DT.95124178 

    24/81 AceView cDNA sequences (see all 81):

    BC059387 NM_013251 BX114126 BC032145 AF537118 AF537115 AF127026 AY358679 
    AU098730 BG002828 CR620932 AF537117 AF186112 AF537116 CD620413 AI832211 
    CD620409 BX118017 AI139283 AF105424 AF537113 NM_005379 AF537121 AF537120 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MYO1A (see all 7)    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30
    SP1:                                                              -               
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for MYO1A

    (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

    MYO1A expression in normal human tissues (normalized intensities)      MYO1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTGGGGAT
    MYO1A Expression
    About this image


    MYO1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Heart (Cardiovascular System)
             Cardiomyocyte-like cells ( Spontaneous differentiation of cardiomyocytes from human...
     
     Stomach (Gastrointestinal Tract)

    See MYO1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO1A

    SOURCE GeneReport for Unigene cluster: Hs.5394
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    In Situ
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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 animals and fungi.

    Orthologs for MYO1A gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo1a1 , 5 myosin IA1, 5 86.13(n)1
    87.63(a)1
      10 (74.62 cM)5
    4325161  NM_001081219.21  NP_001074688.11 
     1277052565 
    chicken
    (Gallus gallus)
    Aves MYO1A1 myosin IA 67.15(n)
    64.44(a)
      396072  NM_205163.1  NP_990494.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYO1A6
    myosin IA
    62(a)
    1 ↔ 1
    2(70433875-70548357)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.40232 Transcribed sequence with weak similarity to protein more 75.75(n)    AL851677.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Myo61F3 actin binding 45(a)
    (best of 3)
      61F6   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO36
    One of two type I myosins; localizes to actin cort...
    24(a)
    1 → many
    XI(196349-200167)


    ENSEMBL Gene Tree for MYO1A (if available)
    TreeFam Gene Tree for MYO1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO1A gene
    MYO1D2  MYO15A2  MYO162  MYO1C2  MYO1F2  MYO1G2  MYO1B2  MYO1E2  
    MYO1H2  MYO192  
    18/35 SIMAP similar genes for MYO1A using alignment to 5 protein entries:     MYO1A_HUMAN (see all proteins) (see all similar genes):
    MYO1B    MYO9A    MYO1C    MYO9B    MYO5C    MYO19
    MYO3B    MYO1D    MYO1H    MYO1E    FLJ00395    MYO1F variant protein
    DKFZp686A01173    MYO15A    MYO6    MYO7A    MYO5A    MYO7B

    MYO1A 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

    10/662 SNPs in MYO1A are shown (see all 662)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0159474
    Deafness, autosomal dominant, 48 (DFNA48)4--see VAR_0159472 E D mis40--------
    VAR_0159494
    Deafness, autosomal dominant, 48 (DFNA48)4--see VAR_0159492 G D mis40--------
    VAR_0159514
    Deafness, autosomal dominant, 48 (DFNA48)4--see VAR_0159512 S P mis40--------
    rs1134706611,2,4
    C,FDeafness, autosomal dominant, 48 (DFNA48)4 --57258676(+) TTGTGG/AATGGC 4 /S /F mis14Minor allele frequency- A:0.00NA EU 5879
    rs339629521,2,4
    C,Fpathogenic157265160(+) GCTCCC/TCCAGG 4 E G mis16Minor allele frequency- T:0.02NA EU 6065
    rs617538491,2
    C,Fpathogenic157268983(+) AATATC/ATCAAA 4 /E /D mis12Minor allele frequency- A:0.00NA EU 5873
    rs556790421,2,4
    C,Fpathogenic157270877(+) GCCCAC/TCATCT 4 M V mis12Minor allele frequency- T:0.01NA EU 5873
    rs1219093051,2
    C,Fpathogenic157275218(-) GGGACC/TGAGAC 4 R * stg12Minor allele frequency- T:0.01NA EU 5871
    rs714465951,2
    C--54478214(+) GATGGC/-CCCCG 2 -- int11Minor allele frequency- -:0.50NA 2
    rs631242611,2
    C--54484922(+) TTGGG-/TGTAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYO1A (57422301 - 57444982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYO1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv722CNV Insertion18451855
    nsv899111CNV Loss21882294
    nsv899110CNV Loss21882294
    nsv832428CNV Gain17160897


    Human Gene Mutation Database (HGMD): MYO1A
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MYO1A

    (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: 601478   
    OMIM disorders: 607841  
    UniProtKB/Swiss-Prot: MYO1A_HUMAN, Q9UBC5
  • Deafness, autosomal dominant, 48 (DFNA48) [MIM:607841]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 11 diseases for MYO1A:    About MalaCards
    deafness, autosomal dominant 48    dfna48 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, autosomal dominant    sensorineural hearing loss
    t cell deficiency    spinal cord injury    chronic obstructive pulmonary disease    myotonic dystrophy
    congestive heart failure    retinitis    schizophrenia


    MYO1A for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MYO1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atrophy 39.2 1 9609737 (1)
    heart failure 3.2 1 9054750 (1)

    Genetic Association Database (GAD): MYO1A
    Human Genome Epidemiology (HuGE) Navigator: MYO1A (1 document)

    Export disorders for MYO1A 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 MYO1A gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with MYO1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. (PubMed id 12736868)1, 2, 3, 9 Donaudy F.... Gasparini P. (2003)
    2. Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes. (PubMed id 10653589)1, 2, 9 Li W.... Grand R.J. (2000)
    3. Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells. (PubMed id 9858156)1, 2, 9 Skowron J.F.... Mooseker M.S. (1998)
    4. 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)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)1, 3 Hasson T.... Jenkins N.A. (1996)
    7. MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells. (PubMed id 11916846)1, 9 Tyska M.J. and Mooseker M.S. (2002)
    8. Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a. (PubMed id 17981900)1, 9 Yengo C.M....Tyska M.J. (2008)
    9. Brush border myosin Ia inactivation in gastric but not endometrial tumors. (PubMed id 23002058)1 Mazzolini R....Arango D. (2013)
    10. Brush border myosin Ia has tumor suppressor activity i n the intestine. (PubMed id 22307608)1 Mazzolini R....Arango D. (2012)

    (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: 4640 HGNC: 7595 AceView: MYO1AandTAC3 Ensembl:ENSG00000166866 euGenes: HUgn4640
    ECgene: MYO1A H-InvDB: MYO1A

    (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 MYO1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO1A gene:
    Search GeneIP for patents involving MYO1A

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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