This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in in... See more...

Aliases for MYO1C Gene

Aliases for MYO1C Gene

  • Myosin IC 2 3 5
  • Unconventional Myosin-Ic 3 4
  • MMI-Beta 3 4
  • MMIb 3 4
  • Myr2 2 3
  • Nuclear Myosin I 3
  • Myosin-I Beta 3
  • Myosin I Beta 4
  • Myosin-Ic 3
  • MYO1C 5
  • NMI 3

External Ids for MYO1C Gene

Previous GeneCards Identifiers for MYO1C Gene

  • GC17M001501
  • GC17M001704
  • GC17M001319
  • GC17M001574
  • GC17M001314
  • GC17M001367

Summaries for MYO1C Gene

Entrez Gene Summary for MYO1C Gene

  • This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYO1C Gene

MYO1C (Myosin IC) is a Protein Coding gene. Diseases associated with MYO1C include Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna and Myopathy, Centronuclear, 1. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and calmodulin binding. An important paralog of this gene is MYO1H.

UniProtKB/Swiss-Prot Summary for MYO1C Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes.
  • Isoform 3 is involved in regulation of transcription. Associated with transcriptional active ribosomal genes. Appears to cooperate with the WICH chromatin-remodeling complex to facilitate transcription. Necessary for the formation of the first phosphodiester bond during transcription initiation (By similarity).

Gene Wiki entry for MYO1C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO1C Gene

Genomics for MYO1C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO1C 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 MYO1C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO1C

Top Transcription factor binding sites by QIAGEN in the MYO1C gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-4a
  • RORalpha2

Genomic Locations for MYO1C Gene

Latest Assembly
chr17:1,464,186-1,492,686
(GRCh38/hg38)
Size:
28,501 bases
Orientation:
Minus strand

Previous Assembly
chr17:1,367,480-1,395,980
(GRCh37/hg19 by Entrez Gene)
Size:
28,501 bases
Orientation:
Minus strand

chr17:1,367,392-1,396,106
(GRCh37/hg19 by Ensembl)
Size:
28,715 bases
Orientation:
Minus strand

Genomic View for MYO1C Gene

Genes around MYO1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1C Gene

Proteins for MYO1C Gene

  • Protein details for MYO1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00159-MYO1C_HUMAN
    Recommended name:
    Unconventional myosin-Ic
    Protein Accession:
    O00159
    Secondary Accessions:
    • Q4LE56
    • Q6NVJ7
    • Q86Y95

    Protein attributes for MYO1C Gene

    Size:
    1063 amino acids
    Molecular mass:
    121682 Da
    Quaternary structure:
    • Interacts with GLUT4 (By similarity). Interacts (via its IQ motifs) with CABP1 and CIB1; the interaction with CABP1 and CIB1 is calcium-dependent. Interacts (via tail domain) with PLEKHB1 (via PH domain); the interaction is not affected by the presence or absence of calcium and CALM. Interacts with POLR1A and POLR2A. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts (via its IQ motifs) with CALM; this precludes interaction with YWHAB. Interacts with YWHAB; this precludes interaction with CALM. Interacts with RPS6 and actin. Interacts with LLPH (By similarity).
    SequenceCaution:
    • Sequence=AAH68013.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAE06097.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAF85599.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYO1C Gene

    Alternative splice isoforms for MYO1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO1C Gene

Post-translational modifications for MYO1C Gene

  • Isoform 2 contains a N-acetylmethionine at position 1.
  • Ubiquitination at Lys404, Lys740, and Lys868
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for MYO1C

No data available for DME Specific Peptides for MYO1C Gene

Domains & Families for MYO1C Gene

Gene Families for MYO1C Gene

Protein Domains for MYO1C Gene

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

Suggested Antigen Peptide Sequences for MYO1C Gene

GenScript: Design optimal peptide antigens:
  • MYO1C protein (A1L180_HUMAN)
  • Myosin IC, isoform CRA_a (D3DTH7_HUMAN)
  • Myosin I beta (MYO1C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00159

UniProtKB/Swiss-Prot:

MYO1C_HUMAN :
  • Binds directly to large unilamellar vesicles (LUVs) containing phosphatidylinositol 4,5-bisphosphate (PIP2) or inositol 1,4,5-trisphosphate (InsP3). The PIP2-binding site corresponds to the myosin tail domain (PH-like) present in its tail domain (By similarity).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Binds directly to large unilamellar vesicles (LUVs) containing phosphatidylinositol 4,5-bisphosphate (PIP2) or inositol 1,4,5-trisphosphate (InsP3). The PIP2-binding site corresponds to the myosin tail domain (PH-like) present in its tail domain (By similarity).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO1C: view

Function for MYO1C Gene

Molecular function for MYO1C Gene

UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in stereocilia of vestibular hair cells. Binds phosphoinositides and links the actin cytoskeleton to cellular membranes.
UniProtKB/Swiss-Prot Function:
Isoform 3 is involved in regulation of transcription. Associated with transcriptional active ribosomal genes. Appears to cooperate with the WICH chromatin-remodeling complex to facilitate transcription. Necessary for the formation of the first phosphodiester bond during transcription initiation (By similarity).
GENATLAS Biochemistry:
myosin IC,unconventional,apparently non filamentous,homologous to mouse Myo1e

Phenotypes From GWAS Catalog for MYO1C Gene

Gene Ontology (GO) - Molecular Function for MYO1C 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:0005102 signaling receptor binding IPI 21402783
genes like me logo Genes that share ontologies with MYO1C: view
genes like me logo Genes that share phenotypes with MYO1C: view

miRNA for MYO1C Gene

miRTarBase miRNAs that target MYO1C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1C

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO1C Gene

Localization for MYO1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO1C Gene

[Isoform 1]: Cytoplasm. Nucleus. Note=Colocalizes with RNA polymerase II. Absent from nucleoli and does not colocalize with RNA polymerase I. Translocates to nuclear speckles upon exposure to inhibitors of RNA polymerase II transcription.
[Isoform 2]: Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, stereocilium membrane. Cell projection, ruffle. Cytoplasmic vesicle. Note=Colocalizes with CABP1 and CIB1 at cell margin, membrane ruffles and punctate regions on the cell membrane. Colocalizes in adipocytes with GLUT4 at actin-based membranes. Colocalizes with GLUT4 at insulin-induced ruffles at the cell membrane. Localizes transiently at cell membrane to region known to be enriched in PIP2. Activation of phospholipase C results in its redistribution to the cytoplasm (By similarity). {ECO:0000250}.
[Isoform 3]: Nucleus, nucleoplasm. Nucleus, nucleolus. Nucleus, nuclear pore complex. Note=Colocalizes with RNA polymerase II in the nucleus. Colocalizes with RNA polymerase I in nucleoli (By similarity). In the nucleolus, is localized predominantly in dense fibrillar component (DFC) and in granular component (GC). Accumulates strongly in DFC and GC during activation of transcription. Colocalizes with transcription sites. Colocalizes in the granular cortex at the periphery of the nucleolus with RPS6. Colocalizes in nucleoplasm with RPS6 and actin that are in contact with RNP particles. Colocalizes with RPS6 at the nuclear pore level. {ECO:0000250}.

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 MYO1C gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
endosome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 NOT stress fiber IDA --
GO:0001726 ruffle IEA --
GO:0005634 nucleus IEA --
GO:0005643 nuclear pore IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with MYO1C: view

Pathways & Interactions for MYO1C Gene

PathCards logo

SuperPathways for MYO1C Gene

genes like me logo Genes that share pathways with MYO1C: view

Pathways by source for MYO1C Gene

2 GeneGo (Thomson Reuters) pathways for MYO1C Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
11 Qiagen pathways for MYO1C Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Interacting Proteins for MYO1C Gene

SIGNOR curated interactions for MYO1C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYO1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IDA 21402783
GO:0006612 protein targeting to membrane IDA 21402783
GO:0007015 actin filament organization IBA 21873635
GO:0015031 protein transport IEA --
GO:0030050 vesicle transport along actin filament IBA 21873635
genes like me logo Genes that share ontologies with MYO1C: view

Drugs & Compounds for MYO1C Gene

(1) Drugs for MYO1C Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYO1C: view

Transcripts for MYO1C Gene

mRNA/cDNA for MYO1C Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1C

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1C Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - - - - -
SP6:
SP7: - -
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MYO1C Gene

GeneLoc Exon Structure for
MYO1C

Expression for MYO1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYO1C Gene

This gene is overexpressed in Adipocyte (20.1) and Colon muscle (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO1C Gene



Protein tissue co-expression partners for MYO1C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO1C

SOURCE GeneReport for Unigene cluster for MYO1C Gene:

Hs.286226

Evidence on tissue expression from TISSUES for MYO1C Gene

  • Kidney(4.7)
  • Liver(4.5)
  • Eye(4.4)
  • Intestine(3.9)
  • Nervous system(3.8)
  • Lung(3.8)
  • Pancreas(3.4)
  • Skin(2.9)
  • Muscle(2.8)
  • Heart(2.8)
  • Blood(2.4)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO1C 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 MYO1C: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MYO1C Gene

Orthologs for MYO1C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYO1C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO1C 29 30
  • 97.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO1C 29 30
  • 91.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO1C 29 30
  • 91.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO1C 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo1c 29 16 30
  • 88.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo1c 29
  • 88.28 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO1C 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO1C 29 30
  • 75.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO1C 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo1c 29
  • 69.99 (n)
Str.15016 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68653 29
Zebrafish
(Danio rerio)
Actinopterygii myo1c 29 30
  • 69.84 (n)
OneToMany
MYO1C 30
  • 68 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8702 29
Fruit Fly
(Drosophila melanogaster)
Insecta Myo61F 29 30
  • 59.17 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 30
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11244 30
  • 52 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.198 29
Species where no ortholog for MYO1C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MYO1C Gene

ENSEMBL:
Gene Tree for MYO1C (if available)
TreeFam:
Gene Tree for MYO1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1C: view image
Alliance of Genome Resources:
Additional Orthologs for MYO1C

Paralogs for MYO1C Gene

(34) SIMAP similar genes for MYO1C Gene using alignment to 11 proteins:

  • MYO1C_HUMAN
  • A1L180_HUMAN
  • D3DTH7_HUMAN
  • F5H6E2_HUMAN
  • I3L168_HUMAN
  • I3L204_HUMAN
  • I3L2C3_HUMAN
  • I3L3F5_HUMAN
  • I3L3Y6_HUMAN
  • I3L4D4_HUMAN
  • I3L501_HUMAN
genes like me logo Genes that share paralogs with MYO1C: view

Variants for MYO1C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO1C Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs111532225 Benign: not provided 1,485,679(-) C/T
NM_001080779.2(MYO1C):c.76-1376G>A
INTRON
rs112029113 Likely Benign: not specified 1,483,020(-) C/T
NM_001080779.2(MYO1C):c.387G>A (p.Thr129=)
SYNONYMOUS
rs113932235 Likely Benign: not provided 1,479,550(-) G/C
NM_001080779.2(MYO1C):c.1020+42C>G
INTRON
rs114221590 Likely Benign: not specified 1,484,244(-) C/T
NM_001080779.2(MYO1C):c.135G>A (p.Arg45=)
SYNONYMOUS
rs11538156 Benign: not specified 1,484,178(-) C/T
NM_001080779.2(MYO1C):c.201G>A (p.Leu67=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO1C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYO1C Gene

Variant ID Type Subtype PubMed ID
esv2676177 CNV deletion 23128226
esv2715464 CNV deletion 23290073
esv3639687 CNV loss 21293372
nsv1057782 CNV gain 25217958
nsv1125201 CNV insertion 24896259
nsv1151697 CNV insertion 26484159
nsv472541 CNV novel sequence insertion 20440878
nsv516805 CNV loss 19592680
nsv833334 CNV loss 17160897
nsv952098 CNV deletion 24416366

Variation tolerance for MYO1C Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO1C Gene

Human Gene Mutation Database (HGMD)
MYO1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1C
Leiden Open Variation Database (LOVD)
MYO1C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1C Gene

Disorders for MYO1C Gene

MalaCards: The human disease database

(10) MalaCards diseases for MYO1C Gene - From: ORP and COP

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
myopathy, centronuclear, 1
  • cnm1
chromosome 17p13.3, centromeric, duplication syndrome
  • chromosome 17p13.3 duplication syndrome
deafness, autosomal dominant 48
  • dfna48
amebiasis
  • amoebiasis
- elite association - COSMIC cancer census association via MalaCards
Search MYO1C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO1C

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYO1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO1C Gene

Publications for MYO1C Gene

  1. Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. (PMID: 9119401) Crozet F … Petit C (Genomics 1997) 2 3 4 22
  2. Are MYO1C and MYO1F associated with hearing loss? (PMID: 19027848) Zadro C … Carella M (Biochimica et biophysica acta 2009) 3 40 72
  3. Crystal structure of human myosin 1c--the motor in GLUT4 exocytosis: implications for Ca2+ regulation and 14-3-3 binding. (PMID: 24636949) Münnich S … Manstein DJ (Journal of molecular biology 2014) 3 4
  4. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PMID: 16603771) Cavellán E … Farrants AK (The Journal of biological chemistry 2006) 3 4
  5. Small ribosomal subunits associate with nuclear myosin and actin in transit to the nuclear pores. (PMID: 16877530) Cisterna B … Biggiogera M (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 3 4

Products for MYO1C Gene

Sources for MYO1C Gene