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 molecul... See more...

Aliases for MYO1A Gene

Aliases for MYO1A Gene

  • Myosin IA 2 3 5
  • Unconventional Myosin-Ia 3 4
  • Brush Border Myosin I 3 4
  • Myosin I Heavy Chain 3 4
  • BBMI 3 4
  • MIHC 3 4
  • MYHL 3 4
  • Myosin, Heavy Polypeptide-Like (100kD) 3
  • Myosin, Heavy Polypeptide-Like 110kDa 3
  • DFNA48 3
  • MYO1A 5
  • 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 Pathogenic Escherichia coli infection and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO1B.

UniProtKB/Swiss-Prot Summary for MYO1A Gene

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

Gene Wiki entry for MYO1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO1A Gene

Genomics for MYO1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO1A

Top Transcription factor binding sites by QIAGEN in the MYO1A gene promoter:
  • ATF6
  • COMP1
  • COUP
  • COUP-TF
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a

Genomic Locations for MYO1A Gene

Genomic Locations for MYO1A Gene
chr12:57,028,517-57,051,198
(GRCh38/hg38)
Size:
22,682 bases
Orientation:
Minus strand
chr12:57,422,301-57,444,982
(GRCh37/hg19)
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

Post-translational modifications for MYO1A Gene

Other Protein References for MYO1A Gene

No data available for DME Specific Peptides for MYO1A Gene

Domains & Families for MYO1A Gene

Gene Families for MYO1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYO1A Gene

InterPro:
Blocks:
  • IQ calmodulin-binding region
  • Myosin tail 2
ProtoNet:

Suggested Antigen Peptide Sequences for MYO1A Gene

GenScript: Design optimal peptide antigens:
  • Myosin I heavy chain (MYO1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBC5

UniProtKB/Swiss-Prot:

MYO1A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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

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

Phenotypes From GWAS Catalog for MYO1A Gene

Gene Ontology (GO) - Molecular Function for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MYO1A: view
genes like me logo Genes that share phenotypes with MYO1A: view

Animal Models for MYO1A Gene

MGI Knock Outs for MYO1A:

Animal Model Products

CRISPR Products

miRNA for MYO1A Gene

miRTarBase miRNAs that target MYO1A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1A

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

Localization for MYO1A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO1A gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IBA,IDA 9858156
GO:0005886 plasma membrane IBA 21873635
GO:0005902 microvillus IEA,IDA 9858156
GO:0005903 brush border IEA,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 & Interactions for MYO1A Gene

PathCards logo

SuperPathways for MYO1A Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
.56
.36
2 Actin Nucleation by ARP-WASP Complex
.66
.35
3 RhoGDI Pathway
.33
.33
4 Pathogenic Escherichia coli infection
5 Sweet Taste Signaling
.46
genes like me logo Genes that share pathways with MYO1A: view

Pathways by source for MYO1A Gene

1 KEGG pathway for MYO1A Gene
11 Qiagen pathways for MYO1A Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for MYO1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0007605 sensory perception of sound IBA,IMP 12736868
GO:0030030 cell projection organization IEA --
GO:0030033 microvillus assembly IEA --
GO:0030050 vesicle transport along actin filament IBA 21873635
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

(6) Drugs for MYO1A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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

mRNA/cDNA for MYO1A Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1A

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

Expression for MYO1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MYO1A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO1A

SOURCE GeneReport for Unigene cluster for MYO1A Gene:

Hs.5394

Evidence on tissue expression from TISSUES for MYO1A Gene

  • Intestine(4.6)
  • Heart(2.6)
  • Gall bladder(2.5)
  • Liver(2.5)
  • Nervous system(2.5)
  • Muscle(2.4)
  • Eye(2.3)
  • Lung(2.2)
  • Pancreas(2.2)
  • Adrenal gland(2.2)
  • Kidney(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO1A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYO1A: view

No data available for Protein tissue co-expression partners and 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 30 31
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO1A 30 31
  • 88.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO1A 30 31
  • 87.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo1a 30 17 31
  • 86.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo1a 30
  • 85.81 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO1A 31
  • 66 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO1A 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO1A 30 31
  • 67.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 62 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo1a 30
  • 61.62 (n)
Str.4023 30
Fruit Fly
(Drosophila melanogaster)
Insecta Myo61F 32
  • 45 (a)
Myo31DF 32
  • 38 (a)
Myo95E 31 32
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hum-5 32
  • 40 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for MYO1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1A: view image

Paralogs for MYO1A Gene

(35) SIMAP similar genes for MYO1A Gene using alignment to 5 proteins:

  • MYO1A_HUMAN
  • C9JU63_HUMAN
  • F5GWY8_HUMAN
  • G3V342_HUMAN
  • G3V587_HUMAN
genes like me logo Genes that share paralogs with MYO1A: view

Variants for MYO1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO1A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
668394 Likely Benign: not provided 57,037,017(-) G/T SYNONYMOUS_VARIANT
676684 Benign: not provided 57,029,712(-) G/A INTRON_VARIANT
682253 Likely Benign: not provided 57,030,271(-) G/A SYNONYMOUS_VARIANT
682258 Likely Benign: not provided 57,043,346(-) A/G MISSENSE_VARIANT
683283 Likely Benign: not provided 57,037,466(-) C/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MYO1A Gene

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

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789
nsv722 CNV insertion 18451855
nsv832428 CNV gain 17160897

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)

Additional Variant Information for MYO1A Gene

Human Gene Mutation Database (HGMD)
MYO1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1A

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYO1A Gene

MalaCards: The human disease database

(12) MalaCards diseases for MYO1A Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYO1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (American journal of human genetics 2003) 2 3 4 23
  2. Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes. (PMID: 10653589) Li W … Grand RJ (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2000) 3 4 23
  3. Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells. (PMID: 9858156) Skowron JF … Mooseker MS (Cell motility and the cytoskeleton 1998) 3 4 23
  4. Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. (PMID: 24616153) Eisenberger T … Bolz HJ (Human mutation 2014) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for MYO1A Gene

  • Signalway ELISA kits for MYO1A

Sources for MYO1A Gene