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
  • 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 Bronchopneumonia and Visceral Heterotaxy. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Actin Nucleation by ARP-WASP Complex. 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).

Additional gene information for MYO1D Gene

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 for MYO1D Gene

Promoters and enhancers for MYO1D Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J032875 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 755.2 -0.5 -537 4.6 ZNF24 CTCF ZNF362 HLF L3MBTL2 RAD21 MNT POLR2A NKRF ELF3 MYO1D ENSG00000226377 LOC102724715 TMEM98 UTP6 SUZ12 SH3GL1P1 ZNF207 RF01045-055
GH17J032909 Enhancer 1.3 Ensembl ENCODE dbSUPER 18.8 -34.2 -34233 3.5 ZBTB40 CTCF SMARCE1 MIXL1 CC2D1A ELF1 L3MBTL2 RAD21 MNT ZNF148 MYO1D TMEM98 ENSG00000226377 ENSG00000236377 piR-55654-213
GH17J032794 Enhancer 1.1 Ensembl ENCODE 16.8 +82.0 81976 3.6 FOXA1 CREB1 MIXL1 CC2D1A NFYC HLF RAD21 L3MBTL2 DACH1 TEAD4 MYO1D TMEM98 ENSG00000226377 CDK5R1 piR-57133-256 piR-48373-007
GH17J032827 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 13 +48.5 48527 3.2 FOXA1 SMARCE1 RELA SP1 MLLT1 CREM ZNF384 IKZF1 POLR2A CEBPA ENSG00000201178 MYO1D ENSG00000226377 TMEM98 L13713-098
GH17J032803 Enhancer 0.7 Ensembl ENCODE 20.7 +71.1 71076 7.4 ZNF121 GATA3 CEBPG CEBPB JUN JUND ZFP91 ATF2 ZBTB33 piR-48373-007 TMEM98 MYO1D ENSG00000226377 CDK5R1 L13713-098
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MYO1D Gene
chr17:32,492,522-32,877,177
(GRCh38/hg38)
Size:
384,656 bases
Orientation:
Minus strand
chr17:30,819,540-31,204,195
(GRCh37/hg19)
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

No data available for DME Specific Peptides for MYO1D Gene

Domains & Families for MYO1D Gene

Gene Families for MYO1D Gene

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

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 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

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids 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
cytoskeleton 4
endoplasmic reticulum 4
endosome 4
cytosol 4
nucleus 3
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 IEA --
GO:0005768 endosome ISS --
GO:0005769 early endosome IEA --
GO:0005790 smooth endoplasmic reticulum ISS,IEA --
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
5 Pathogenic Escherichia coli infection
genes like me logo Genes that share pathways with MYO1D: view

Pathways by source for MYO1D Gene

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:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0015031 protein transport IEA --
GO:0030900 forebrain development IEA --
GO:0051641 cellular localization ISS,IEA --
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

Drugs & Compounds for MYO1D Gene

No Compound Related Data Available

Transcripts for MYO1D Gene

CRISPR Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
MYO1D

Expression for MYO1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

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.

Evidence on tissue expression from TISSUES for MYO1D Gene

  • Nervous system(4.6)
  • Intestine(2.9)
  • Blood(2.5)
  • Pancreas(2.5)
  • Skin(2.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with MYO1D: view

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 33 32
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYO1D 33 32
  • 92.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYO1D 33
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO1D 33 32
  • 90.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo1d 32
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia Myo1d 17 33 32
  • 90.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO1D 33
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO1D 33 32
  • 78.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO1D 33
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo1d 32
  • 71.97 (n)
zebrafish
(Danio rerio)
Actinopterygii MYO1D 33
  • 81 (a)
OneToOne
si:ch211-94l19.4 32
  • 72.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Myo31DF 33 32
  • 55.64 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010160 32
  • 35.1 (n)
worm
(Caenorhabditis elegans)
Secernentea hum-5 33 32
  • 55.05 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 33
  • 26 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.442 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1D: view image

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 from dbSNP and Humsavar for MYO1D Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000001783 -- 32,828,249(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000017043 -- 32,847,485(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000026813 -- 32,555,158(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000030841 -- 32,700,366(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000036109 -- 32,523,990(-) T/C genic_downstream_transcript_variant, 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)

Additional Variant Information for MYO1D Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYO1D Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYO1D Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
bronchopneumonia
  • bronchial pneumonia
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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 43 56
  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 43 56
  3. Genome-wide association study of pancreatic cancer in Japanese population. (PMID: 20686608) Low SK … Sakamoto H (PloS one 2010) 3 43 56
  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 43 56
  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 56

Products for MYO1D Gene

Sources for MYO1D Gene