Aliases for MYO1D Gene

Aliases for MYO1D Gene

  • Myosin ID 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 108 2 3
  • Unconventional Myosin-Id 3 4
  • PPP1R108 2 3
  • KIAA0727 2 4
  • Myr4 2 3
  • Myosin-I Gamma 3
  • MYO1D 5

External Ids for MYO1D Gene

Previous GeneCards Identifiers for MYO1D Gene

  • GC17M030586
  • GC17M032854
  • GC17M030965
  • GC17M027844
  • GC17M030819
  • GC17M027005

Summaries for MYO1D Gene

GeneCards Summary for MYO1D Gene

MYO1D (Myosin ID) is a Protein Coding gene. Diseases associated with MYO1D include Refractive Error and Canavan Disease. 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 actin binding and calmodulin binding. An important paralog of this gene is MYO1G.

UniProtKB/Swiss-Prot Summary for MYO1D Gene

  • Unconventional myosin that functions as actin-based motor protein with ATPase activity (By similarity). Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes (By similarity). Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO1D Gene

Genomics for MYO1D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO1D 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 MYO1D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO1D

Top Transcription factor binding sites by QIAGEN in the MYO1D gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FAC1
  • HOXA5
  • Nkx2-5

Genomic Locations for MYO1D Gene

Latest Assembly
chr17:32,492,522-32,877,177
(GRCh38/hg38)
Size:
384,656 bases
Orientation:
Minus strand

Previous Assembly
chr17:30,819,540-31,204,142
(GRCh37/hg19 by Entrez Gene)
Size:
384,603 bases
Orientation:
Minus strand

chr17:30,819,540-31,204,195
(GRCh37/hg19 by Ensembl)
Size:
384,656 bases
Orientation:
Minus strand

Genomic View for MYO1D Gene

Genes around MYO1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1D Gene

Proteins for MYO1D Gene

  • Protein details for MYO1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94832-MYO1D_HUMAN
    Recommended name:
    Unconventional myosin-Id
    Protein Accession:
    O94832
    Secondary Accessions:
    • A6H8V3
    • Q8NHP9

    Protein attributes for MYO1D Gene

    Size:
    1006 amino acids
    Molecular mass:
    116202 Da
    Quaternary structure:
    • Interacts (via the two IQ motifs) with calmodulin. Binds an additional calmodulin chain via a third, C-terminal region. Interacts with F-actin.
    SequenceCaution:
    • Sequence=BAA34447.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MYO1D Gene

Post-translational modifications for MYO1D Gene

  • Ubiquitination at Lys559, Lys767, and Lys811
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for MYO1D
  • Boster Bio Antibodies for MYO1D

No data available for DME Specific Peptides for MYO1D Gene

Domains & Families for MYO1D Gene

Gene Families for MYO1D Gene

Protein Domains for MYO1D Gene

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

Suggested Antigen Peptide Sequences for MYO1D Gene

GenScript: Design optimal peptide antigens:
  • Myosin-Id (MYO1D_HUMAN)
  • MYO1D protein (Q8N618_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94832

UniProtKB/Swiss-Prot:

MYO1D_HUMAN :
  • Binds a calmodulin chain via each of the two IQ domains. IQ domain 1 mediates interaction with calmodulin both in the presence and in the absence of Ca(2+). IQ domain 2 mediates interaction with calmodulin in the presence of Ca(2+).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Binds a calmodulin chain via each of the two IQ domains. IQ domain 1 mediates interaction with calmodulin both in the presence and in the absence of Ca(2+). IQ domain 2 mediates interaction with calmodulin in the presence of Ca(2+).
  • The TH1 domain is required for activity in complementing zebrafish defects in Kupffer's vesicle lumen size.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO1D: view

Function for MYO1D Gene

Molecular function for MYO1D Gene

UniProtKB/Swiss-Prot Function:
Unconventional myosin that functions as actin-based motor protein with ATPase activity (By similarity). Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes (By similarity). Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells (By similarity).
GENATLAS Biochemistry:
myosin ID,unconventional,apparently non filamentous,homologous to mouse Myo1f,expressed in cochlea

Phenotypes From GWAS Catalog for MYO1D Gene

Gene Ontology (GO) - Molecular Function for MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IEA,ISS --
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 MYO1D: view
genes like me logo Genes that share phenotypes with MYO1D: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO1D Gene

Localization for MYO1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO1D Gene

Cytoplasm. Perikaryon. Cell projection, dendrite. Early endosome. Cytoplasm, cell cortex. Note=Colocalizes with the actin cytoskeleton in the cell cortex close to the apical cell membrane. Colocalizes with cytoplasmic puncta that are reminiscent of transport vesicles. {ECO:0000250 UniProtKB:Q63357}.

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 MYO1D gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 4
endoplasmic reticulum 4
endosome 4
cytosol 4
nucleus 3
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005768 endosome ISS --
GO:0005769 early endosome IEA --
GO:0005790 smooth endoplasmic reticulum IEA,ISS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with MYO1D: view

Pathways & Interactions for MYO1D Gene

PathCards logo

SuperPathways for MYO1D 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 Delta508-CFTR traffic / ER-to-Golgi in CF
.32
.31
5 Salmonella infection (KEGG)
genes like me logo Genes that share pathways with MYO1D: view

Pathways by source for MYO1D Gene

1 KEGG pathway for MYO1D Gene
2 GeneGo (Thomson Reuters) pathways for MYO1D Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
11 Qiagen pathways for MYO1D 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 MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0015031 protein transport IEA --
GO:0030050 vesicle transport along actin filament IBA 21873635
GO:0030900 forebrain development IEA --
genes like me logo Genes that share ontologies with MYO1D: view

No data available for SIGNOR curated interactions for MYO1D Gene

Drugs & Compounds for MYO1D Gene

No Compound Related Data Available

Transcripts for MYO1D Gene

mRNA/cDNA for MYO1D Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
16 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 MYO1D

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1D Gene

No ASD Table

Relevant External Links for MYO1D Gene

GeneLoc Exon Structure for
MYO1D

Expression for MYO1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO1D Gene

This gene is overexpressed in Artery - Aorta (x7.7), Artery - Tibial (x5.5), and Artery - Coronary (x5.0).

Protein differential expression in normal tissues from HIPED for MYO1D Gene

This gene is overexpressed in Spinal cord (14.8) and Nasal epithelium (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO1D Gene



Protein tissue co-expression partners for MYO1D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO1D

SOURCE GeneReport for Unigene cluster for MYO1D Gene:

Hs.602063

mRNA Expression by UniProt/SwissProt for MYO1D Gene:

O94832-MYO1D_HUMAN
Tissue specificity: Expressed in many tissues. Highest levels in brain, followed by lung and ovary; expression is lowest in spleen.

Evidence on tissue expression from TISSUES for MYO1D Gene

  • Nervous system(4.6)
  • Intestine(3.3)
  • Blood(3)
  • Skin(3)
  • Pancreas(2.5)
  • Gall bladder(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with MYO1D: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO1D Gene

Orthologs for MYO1D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO1D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO1D 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO1D 29 30
  • 92.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO1D 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO1D 29 30
  • 90.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo1d 29
  • 90.49 (n)
Mouse
(Mus musculus)
Mammalia Myo1d 29 16 30
  • 90.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO1D 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO1D 29 30
  • 78.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO1D 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo1d 29
  • 71.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii MYO1D 30
  • 81 (a)
OneToOne
si:ch211-94l19.4 29
  • 72.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Myo31DF 29 30
  • 55.64 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010160 29
  • 35.1 (n)
Worm
(Caenorhabditis elegans)
Secernentea hum-5 29 30
  • 55.05 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 30
  • 26 (a)
OneToMany
Corn
(Zea mays)
Liliopsida Zm.442 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
OneToMany
Species where no ortholog for MYO1D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for MYO1D Gene

ENSEMBL:
Gene Tree for MYO1D (if available)
TreeFam:
Gene Tree for MYO1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1D: view image
Alliance of Genome Resources:
Additional Orthologs for MYO1D

Paralogs for MYO1D Gene

(36) SIMAP similar genes for MYO1D Gene using alignment to 6 proteins:

  • MYO1D_HUMAN
  • J3KRL0_HUMAN
  • J3QRN6_HUMAN
  • J3QRR2_HUMAN
  • K7EIG7_HUMAN
  • Q8N618_HUMAN
genes like me logo Genes that share paralogs with MYO1D: view

Variants for MYO1D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO1D Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs115981197 Benign: not provided 32,605,158(-) G/A
NM_015194.3(MYO1D):c.2793C>T (p.Leu931=)
SYNONYMOUS
rs116381558 Likely Benign: not provided 32,767,670(-) G/C
NM_015194.3(MYO1D):c.797C>G (p.Thr266Arg)
MISSENSE
rs117036818 Benign: not provided 32,748,944(-) G/A
NM_015194.3(MYO1D):c.1530C>T (p.Gly510=)
SYNONYMOUS
rs142109768 Likely Benign: not provided 32,776,020(-) A/G
NM_015194.3(MYO1D):c.408T>C (p.Asn136=)
SYNONYMOUS
rs143314446 Likely Benign: not provided 32,778,518(-) C/T
NM_015194.3(MYO1D):c.360G>A (p.Ala120=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO1D 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 MYO1D Gene

Variant ID Type Subtype PubMed ID
dgv568e214 CNV gain 21293372
esv1340589 CNV insertion 17803354
esv2670976 CNV deletion 23128226
esv3306358 CNV mobile element insertion 20981092
esv3342524 CNV duplication 20981092
esv3379868 CNV insertion 20981092
esv3387354 CNV insertion 20981092
esv3388006 CNV insertion 20981092
esv3401653 CNV insertion 20981092
esv3554324 CNV deletion 23714750
esv3582606 CNV loss 25503493
esv3640384 CNV loss 21293372
esv3640385 CNV loss 21293372
esv3640386 CNV loss 21293372
esv3640391 CNV loss 21293372
esv3892994 CNV gain 25118596
nsv1072729 CNV deletion 25765185
nsv1109070 CNV deletion 24896259
nsv1134640 CNV deletion 24896259
nsv472817 CNV novel sequence insertion 20440878
nsv507839 OTHER sequence alteration 20534489
nsv510705 CNV deletion 20534489
nsv519839 CNV loss 19592680
nsv833415 CNV gain 17160897
nsv833416 CNV gain 17160897
nsv833417 CNV gain 17160897

Variation tolerance for MYO1D Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO1D Gene

Human Gene Mutation Database (HGMD)
MYO1D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1D
Leiden Open Variation Database (LOVD)
MYO1D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1D Gene

Disorders for MYO1D Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYO1D Gene - From: COP and GCD

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
canavan disease
  • canavan-van bogaert-bertrand disease
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards
Search MYO1D in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO1D

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 MYO1D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO1D Gene

Publications for MYO1D Gene

  1. Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study. (PMID: 22322875) Kim SJ … Shin C (Circulation journal : official journal of the Japanese Circulation Society 2012) 3 40
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  3. Genome-wide association study of pancreatic cancer in Japanese population. (PMID: 20686608) Low SK … Sakamoto H (PloS one 2010) 3 40
  4. High density SNP association study of a major autism linkage region on chromosome 17. (PMID: 17376794) Stone JL … Nelson SF (Human molecular genetics 2007) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for MYO1D Gene

Sources for MYO1D Gene