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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
  • Myosin-I Gamma 3
  • PPP1R108 3
  • KIAA0727 4
  • Myr4 3

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 Visceral Heterotaxy. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYO1G.

UniProtKB/Swiss-Prot for MYO1D 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 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO1D Gene

Genomics for MYO1D Gene

Regulatory Elements for MYO1D Gene

Enhancers for MYO1D Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F032909 0.7 Ensembl ENCODE 18.8 -34.2 -34233 3.5 HDGF ATF1 PKNOX1 ARNT ARID4B CBX5 ELK1 ZNF143 SP5 MIER2 MYO1D TMEM98 ENSG00000226377 ENSG00000236377
GH17F032918 0.8 ENCODE 16.2 -40.9 -40941 0.2 SCRT1 SCRT2 MYO1D ENSG00000226377 TMEM98 ENSG00000236377
GH17F032794 0.5 Ensembl ENCODE 16.2 +81.9 81904 2.5 ATF1 MLX ARID4B DMAP1 YY1 GATA2 SP5 NFYC REST KAT8 MYO1D TMEM98 ENSG00000226377 GC17M032752 GC17P032782
GH17F032827 1.4 FANTOM5 Ensembl ENCODE 13 +48.5 48528 3.2 BCOR SOX13 PKNOX1 ZNF384 RELA YY1 ZNF316 POLR2A FOXK2 CBX5 MYO1D ENSG00000226377 C17orf75 TMEM98 ENSG00000201178 GC17M032831 LOC101927198
GH17F032783 0.2 ENCODE 12.2 +93.5 93460 0.2 CTCF ZNF654 TRIM22 REST RAD21 ZNF664 SMC3 MYC SP7 ENSG00000226377 MYO1D TMEM98 GC17P032782 GC17M032752
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MYO1D on UCSC Golden Path with GeneCards custom track

Promoters for MYO1D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001638119 477 2201 ATF1 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 GLIS2 ELK1 ZNF143

Genomic Location for MYO1D Gene

Chromosome:
17
Start:
32,492,522 bp from pter
End:
32,877,177 bp from pter
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:
    • Binds calmodulin through its IQ motifs.
    SequenceCaution:
    • Sequence=BAA34447.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MYO1D Gene

Post-translational modifications for MYO1D Gene

  • Ubiquitination at Lys 559, Lys 767, and Lys 811
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYO1D Gene

Domains & Families for MYO1D Gene

Suggested Antigen Peptide Sequences for MYO1D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94832

UniProtKB/Swiss-Prot:

MYO1D_HUMAN :
  • Contains 2 IQ domains.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • Contains 2 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 MYO1D: view

Function for MYO1D Gene

Molecular function for MYO1D Gene

GENATLAS Biochemistry:
myosin ID,unconventional,apparently non filamentous,homologous to mouse Myo1f,expressed in cochlea
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 (By similarity).

Gene Ontology (GO) - Molecular Function for MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IEA --
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005516 calmodulin binding ISS --
genes like me logo Genes that share ontologies with MYO1D: view

Phenotypes for MYO1D Gene

genes like me logo Genes that share phenotypes with MYO1D: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for MYO1D Gene COMPARTMENTS Subcellular localization image for MYO1D gene
Compartment Confidence
endosome 5
extracellular 5
cytoskeleton 4
cytosol 4
plasma membrane 4
nucleus 3
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome ISS --
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
GO:0005903 brush border ISS --
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with MYO1D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO1D Gene

Pathways & Interactions for MYO1D Gene

genes like me logo Genes that share pathways with MYO1D: view

Gene Ontology (GO) - Biological Process for MYO1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0030900 forebrain development IEA --
GO:0051641 cellular localization ISS --
GO:0061502 early endosome to recycling endosome transport ISS --
genes like me logo Genes that share ontologies with MYO1D: view

No data available for SIGNOR curated interactions for MYO1D Gene

Transcripts for MYO1D Gene

Unigene Clusters for MYO1D Gene

Myosin ID:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MYO1D Gene

GeneLoc Exon Structure for
MYO1D
ECgene alternative splicing isoforms for
MYO1D

Expression for MYO1D Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for MYO1D Gene



Protein tissue co-expression partners for MYO1D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYO1D Gene:

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.
genes like me logo Genes that share expression patterns with MYO1D: view

Primer Products

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 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia MYO1D 34 35
  • 92.61 (n)
oppossum
(Monodelphis domestica)
Mammalia MYO1D 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO1D 34 35
  • 90.56 (n)
rat
(Rattus norvegicus)
Mammalia Myo1d 34
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia Myo1d 34 16 35
  • 90.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO1D 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO1D 34 35
  • 78.51 (n)
lizard
(Anolis carolinensis)
Reptilia MYO1D 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo1d 34
  • 71.97 (n)
zebrafish
(Danio rerio)
Actinopterygii MYO1D 35
  • 81 (a)
OneToOne
si:ch211-94l19.4 34
  • 72.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Myo31DF 34 35
  • 55.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010160 34
  • 35.1 (n)
worm
(Caenorhabditis elegans)
Secernentea hum-5 34 35
  • 55.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 35
  • 26 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.442 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToMany
Species where no ortholog for MYO1D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MYO1D Gene

Variants for MYO1D Gene

Sequence variations from dbSNP and Humsavar for MYO1D Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1015308 -- 32,504,227(-) ATCAC(A/G)CCCCC intron-variant
rs1018866 -- 32,502,646(-) TGGCT(A/C)AACTT intron-variant
rs1021474 -- 32,667,507(+) CATAC(A/G)ATAAA intron-variant
rs1021475 -- 32,668,024(+) GATAA(C/T)AGGTT intron-variant
rs10221210 -- 32,570,846(+) ATTCA(C/T)GTTTC intron-variant

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)

Relevant External Links for MYO1D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1D

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

Disorders for MYO1D Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYO1D Gene - From: DISEASES

Disorder Aliases PubMed IDs
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards
Search MYO1D in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYO1D

Genetic Association Database (GAD)
MYO1D
Human Genome Epidemiology (HuGE) Navigator
MYO1D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO1D
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 S.J. … Shin C. (Circ. J. 2012) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Genome-wide association study of pancreatic cancer in Japanese population. (PMID: 20686608) Low S.K. … Sakamoto H. (PLoS ONE 2010) 3 46 64
  4. High density SNP association study of a major autism linkage region on chromosome 17. (PMID: 17376794) Stone J.L. … Nelson S.F. (Hum. Mol. Genet. 2007) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MYO1D Gene

Sources for MYO1D Gene

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