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Aliases for MYO1A Gene

Aliases for MYO1A Gene

  • Myosin IA 2 3
  • Brush Border Myosin I 3 4
  • Myosin I Heavy Chain 3 4
  • DFNA48 3 6
  • MIHC 3 4
  • MYHL 3 4
  • BBMI 3 4
  • Myosin, Heavy Polypeptide-Like (100kD) 3
  • Unconventional Myosin-Ia 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 dfna48 nonsyndromic hearing loss and deafness. Among its related pathways are RhoGDI 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for MYO1A Gene

Domains for MYO1A Gene

Gene Families for MYO1A Gene

HGNC:
  • MYOI :Myosins / Myosin superfamily : Class I

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 :
  • Q9UBC5
Domain:
  • Contains 3 IQ domains.
  • Contains 1 myosin motor domain.
  • Contains 1 myosin tail 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:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO1A: view

Phenotypes for MYO1A Gene

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

Animal Models for MYO1A Gene

MGI Knock Outs for MYO1A:

miRNA for MYO1A Gene

miRTarBase miRNAs that target MYO1A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9858156
GO:0005902 microvillus IDA 9858156
GO:0005903 brush border IDA 9858156
GO:0009925 basal plasma membrane IEA --
GO:0016323 basolateral plasma membrane IDA 9858156
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 for MYO1A Gene

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

Pathways by source for MYO1A Gene

Gene Ontology (GO) - Biological Process for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 12736868
GO:0008152 metabolic process IEA --
GO:0030030 cell projection organization --
GO:0030033 microvillus assembly IEA --
GO:0051648 vesicle localization IMP 8692943
genes like me logo Genes that share ontologies with MYO1A: view

Compounds for MYO1A Gene

(11) Novoseek inferred chemical compound relationships for MYO1A Gene

Compound -log(P) Hits PubMed IDs
phosphatidylserine 42.7 7
mgatp 36.1 1
phospholipid 24.8 5
atp 23.9 2
citrate 23.7 2
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 (27.8) and Colon - Transverse (17.7).

Integrated Proteomics: protein expression 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 expressions with MYO1A: view

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia MYO1A 35
  • 99.65 (n)
  • 99.71 (a)
MYO1A 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia MYO1A 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO1A 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo1a 35
  • 85.81 (n)
  • 87.34 (a)
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 Myo95E 36
  • 27 (a)
OneToMany
Myo61F 37
  • 45 (a)
Myo31DF 37
  • 38 (a)
Myo95E 37
  • 33 (a)
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 MAF
rs324009 -- 57,039,136(-) TCCCT(G/T)ATTCC intron-variant
rs324021 -- 57,052,061(+) cttaa(A/C)actgg upstream-variant-2KB
rs371808 -- 57,032,292(-) cactc(A/C)ataaa intron-variant
rs376493 -- 57,030,777(+) attgc(G/T)taatg intron-variant
rs382906 -- 57,035,848(-) TCAGN(A/C)AGTCA intron-variant

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

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

(1) OMIM Diseases for MYO1A Gene (601478)

UniProtKB/Swiss-Prot

MYO1A_HUMAN
  • 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. {ECO:0000269 PubMed:12736868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for MYO1A Gene

Disease -log(P) Hits PubMed IDs
atrophy 39.2 1
heart failure 3.2 1

Relevant External Links for MYO1A

Genetic Association Database (GAD)
MYO1A
Human Genome Epidemiology (HuGE) Navigator
MYO1A
genes like me logo Genes that share disorders with MYO1A: view

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
  2. 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 4 23
  3. 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 4 23
  4. 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
  5. Mapping of unconventional myosins in mouse and human. (PMID: 8884266) Hasson T. … Jenkins N.A. (Genomics 1996) 2 3

Products for MYO1A Gene

Sources for MYO1A Gene

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