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Aliases for MYO1A Gene

Aliases for MYO1A Gene

  • Myosin IA 2 3 5
  • Brush Border Myosin I 3 4
  • Myosin I Heavy Chain 3 4
  • MIHC 3 4
  • MYHL 3 4
  • BBMI 3 4
  • Myosin, Heavy Polypeptide-Like (100kD) 3
  • DFNA48 3
  • BBM-I 4

External Ids for MYO1A Gene

Previous HGNC Symbols for MYO1A Gene

  • MYHL
  • DFNA48

Previous GeneCards Identifiers for MYO1A Gene

  • GC12M057397
  • GC12M057646
  • GC12M057139
  • GC12M055709
  • GC12M055710
  • GC12M055711
  • GC12M057422
  • GC12M054460

Summaries for MYO1A Gene

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 autosomal dominant non-syndromic sensorineural deafness type dfna. Among its related pathways are Integrin Pathway and ERK Signaling. GO annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO1D.

UniProtKB/Swiss-Prot for MYO1A Gene

  • Involved in directing the movement of organelles along actin filaments.

Gene Wiki entry for MYO1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO1A Gene

Genomics for MYO1A Gene

Regulatory Elements for MYO1A Gene

Genomic Location for MYO1A Gene

Chromosome:
12
Start:
57,028,517 bp from pter
End:
57,051,198 bp from pter
Size:
22,682 bases
Orientation:
Minus strand

Genomic View for MYO1A Gene

Genes around MYO1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1A Gene

Proteins for MYO1A Gene

  • Protein details for MYO1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBC5-MYO1A_HUMAN
    Recommended name:
    Unconventional myosin-Ia
    Protein Accession:
    Q9UBC5
    Secondary Accessions:
    • Q9UQD7

    Protein attributes for MYO1A Gene

    Size:
    1043 amino acids
    Molecular mass:
    118401 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MYO1A Gene

Proteomics data for MYO1A Gene at MOPED

Post-translational modifications for MYO1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO1A Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for MYO1A

No data available for DME Specific Peptides for MYO1A Gene

Domains & Families for MYO1A Gene

Gene Families for MYO1A Gene

Suggested Antigen Peptide Sequences for MYO1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBC5

UniProtKB/Swiss-Prot:

MYO1A_HUMAN :
  • Contains 3 IQ domains.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Contains 3 IQ domains.
  • Contains 1 myosin motor domain.
  • Contains 1 TH1 (class I myosin tail homology) domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO1A: view

Function for MYO1A Gene

Molecular function for MYO1A Gene

GENATLAS Biochemistry:
myosin IA,unconventional,apparently non filamentous,homologous to bovine Myo1a
UniProtKB/Swiss-Prot Function:
Involved in directing the movement of organelles along actin filaments.

Gene Ontology (GO) - Molecular Function for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with MYO1A: view
genes like me logo Genes that share phenotypes with MYO1A: view

Human Phenotype Ontology for MYO1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO1A Gene

MGI Knock Outs for MYO1A:

Animal Model Products

miRNA for MYO1A Gene

miRTarBase miRNAs that target MYO1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO1A Gene

Localization for MYO1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO1A Gene COMPARTMENTS Subcellular localization image for MYO1A gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005902 microvillus IEA,IDA 9858156
GO:0005903 brush border IEA,IDA 9858156
GO:0016323 basolateral plasma membrane IDA 9858156
GO:0016324 apical plasma membrane IEA --
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYO1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO1A Gene

Pathways & Interactions for MYO1A Gene

genes like me logo Genes that share pathways with MYO1A: view

Gene Ontology (GO) - Biological Process for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051648 vesicle localization IMP 8692943
genes like me logo Genes that share ontologies with MYO1A: view

No data available for SIGNOR curated interactions for MYO1A Gene

Drugs & Compounds for MYO1A Gene

(5) Drugs for MYO1A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for MYO1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO1A: view

Transcripts for MYO1A Gene

Unigene Clusters for MYO1A Gene

Myosin IA:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1A Gene

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: - - -
SP6:
SP7:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for MYO1A Gene

GeneLoc Exon Structure for
MYO1A
ECgene alternative splicing isoforms for
MYO1A

Expression for MYO1A Gene

mRNA expression in normal human tissues for MYO1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO1A Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x27.8) and Colon - Transverse (x17.7).

Protein differential expression in normal tissues from HIPED for MYO1A Gene

This gene is overexpressed in Lavage (29.8) and Fetal gut (26.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYO1A Gene



SOURCE GeneReport for Unigene cluster for MYO1A Gene Hs.5394

genes like me logo Genes that share expression patterns with MYO1A: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MYO1A Gene

Orthologs for MYO1A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYO1A 35
  • 87.76 (n)
  • 87.25 (a)
MYO1A 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO1A 35
  • 88.47 (n)
  • 89.43 (a)
MYO1A 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo1a 35
  • 86.13 (n)
  • 87.63 (a)
Myo1a 16
Myo1a 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYO1A 35
  • 99.65 (n)
  • 99.71 (a)
MYO1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo1a 35
  • 85.81 (n)
  • 87.34 (a)
oppossum
(Monodelphis domestica)
Mammalia MYO1A 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO1A 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO1A 35
  • 67.12 (n)
  • 64.29 (a)
MYO1A 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myo1a 35
  • 61.62 (n)
  • 60.98 (a)
Str.4023 35
fruit fly
(Drosophila melanogaster)
Insecta Myo31DF 37
  • 38 (a)
Myo61F 37
  • 45 (a)
Myo95E 37
  • 33 (a)
Myo95E 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hum-5 37
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for MYO1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MYO1A Gene

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

Paralogs for MYO1A Gene

Paralogs for MYO1A Gene

genes like me logo Genes that share paralogs with MYO1A: view

Variants for MYO1A Gene

Sequence variations from dbSNP and Humsavar for MYO1A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs55679042 - 57,043,335(+) GCCCA(C/T)CATCT reference, missense
VAR_015947 -
rs33962952 - 57,037,618(+) GCTCC(C/T)CCAGG reference, missense
VAR_015949 -
rs113470661 - 57,031,134(+) TTGTG(A/G)ATGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYO1A Gene

Variant ID Type Subtype PubMed ID
nsv832428 CNV Gain 17160897
nsv899110 CNV Loss 21882294
nsv722 CNV Insertion 18451855
nsv899111 CNV Loss 21882294

Variation tolerance for MYO1A Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO1A Gene

HapMap Linkage Disequilibrium report
MYO1A
Human Gene Mutation Database (HGMD)
MYO1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1A Gene

Disorders for MYO1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYO1A Gene - From: OMIM, GeneTests, and Orphanet

Disorder Aliases PubMed IDs
deafness, autosomal dominant 48
  • dfna48
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
dfna48 nonsyndromic hearing loss and deafness
  • deafness, autosomal dominant 48
- elite association - COSMIC cancer census association via MalaCards
Search MYO1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYO1A

Genetic Association Database (GAD)
MYO1A
Human Genome Epidemiology (HuGE) Navigator
MYO1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO1A
genes like me logo Genes that share disorders with MYO1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO1A Gene

Publications for MYO1A Gene

  1. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. (PMID: 12736868) Donaudy F. … Gasparini P. (Am. J. Hum. Genet. 2003) 2 3 4 23 67
  2. Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a. (PMID: 17981900) Yengo C.M. … Tyska M.J. (Biophys. J. 2008) 3 23
  3. MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells. (PMID: 11916846) Tyska M.J. … Mooseker M.S. (Biophys. J. 2002) 3 23
  4. Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes. (PMID: 10653589) Li W. … Grand R.J. (J. Histochem. Cytochem. 2000) 3 23
  5. Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells. (PMID: 9858156) Skowron J.F. … Mooseker M.S. (Cell Motil. Cytoskeleton 1998) 3 23

Products for MYO1A Gene

Sources for MYO1A Gene

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