Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYO1H Gene

Aliases for MYO1H Gene

  • Myosin IH 2 3 5
  • Unconventional Myosin-Ih 3 4
  • Myosin-1H 3 4
  • Myosin-Ih 3

External Ids for MYO1H Gene

Previous GeneCards Identifiers for MYO1H Gene

  • GC12U990168
  • GC12P108362
  • GC12P109826
  • GC12P106844

Summaries for MYO1H Gene

GeneCards Summary for MYO1H Gene

MYO1H (Myosin IH) is a Protein Coding gene. Diseases associated with MYO1H include Central Hypoventilation Syndrome, Congenital and Spastic Paraplegia 36, Autosomal Dominant. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO1C.

UniProtKB/Swiss-Prot for MYO1H 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).

Additional gene information for MYO1H Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO1H Gene

Genomics for MYO1H Gene

GeneHancer (GH) Regulatory Elements for MYO1H Gene

Promoters and enhancers for MYO1H 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
GH12J109347 Enhancer 0.8 FANTOM5 ENCODE 605.2 +0.1 100 1.1 CBFA2T2 SMARCA4 PKNOX1 CTCF ZSCAN29 NCOR1 DPF2 TCF12 TAL1 TEAD4 MYO1H FOXN4 LINC01486
GH12J109457 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +115.1 115114 11.2 SP1 ZFX ZKSCAN8 ZNF148 GTF2F1 MAFK TRIM24 SP7 SP5 PRDM1 KCTD10 MYO1H TRPV4 UBE3B MVK ENSG00000255655
GH12J109428 Enhancer 1 Ensembl ENCODE 40 +80.3 80298 0.4 CTCF ZSCAN21 RAD21 ZNF143 REST TRIM22 KMT2B ZNF10 SMARCA5 FOXA2 MYO1H UBE3B GC12M109436 GC12P109414
GH12J109109 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -233.5 -233468 10.1 ZFX CTCF ELF3 MNT ZNF148 POLR2A ZNF121 CEBPG CSDE1 AHR ACACB UBE3B MYO1H ALKBH2 UNG DAO ENSG00000256139 GC12M109089 LOC105369974 GC12P109058
GH12J109440 Enhancer 0.9 Ensembl ENCODE dbSUPER 26 +93.2 93198 1 RFX1 POLR2A RFX3 BMI1 PKNOX1 NFIC SIN3A MYO1H GC12M109436 ENSG00000255655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO1H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO1H gene promoter:
  • Ik-1
  • LUN-1
  • LyF-1
  • p53

Genomic Locations for MYO1H Gene

Genomic Locations for MYO1H Gene
chr12:109,347,903-109,455,523
(GRCh38/hg38)
Size:
107,621 bases
Orientation:
Plus strand
chr12:109,785,708-109,893,328
(GRCh37/hg19)
Size:
107,621 bases
Orientation:
Plus strand

Genomic View for MYO1H Gene

Genes around MYO1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1H Gene

Proteins for MYO1H Gene

  • Protein details for MYO1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1T3-MYO1H_HUMAN
    Recommended name:
    Unconventional myosin-Ih
    Protein Accession:
    Q8N1T3
    Secondary Accessions:
    • F5H3C6

    Protein attributes for MYO1H Gene

    Size:
    1032 amino acids
    Molecular mass:
    119037 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MYO1H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO1H Gene

Post-translational modifications for MYO1H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO1H Gene

No data available for DME Specific Peptides for MYO1H Gene

Domains & Families for MYO1H Gene

Gene Families for MYO1H Gene

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

Suggested Antigen Peptide Sequences for MYO1H Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54829, moderately similar to Myosin Ic (B4DNW6_HUMAN)
  • Myosin-1H (MYO1H_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N1T3

UniProtKB/Swiss-Prot:

MYO1H_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 MYO1H: view

Function for MYO1H Gene

Molecular function for MYO1H 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 (By similarity).

Phenotypes From GWAS Catalog for MYO1H Gene

Gene Ontology (GO) - Molecular Function for MYO1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO1H: view
genes like me logo Genes that share phenotypes with MYO1H: view

Human Phenotype Ontology for MYO1H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO1H Gene

MGI Knock Outs for MYO1H:
  • Myo1h Myo1h<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1H

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO1H Gene

Localization for MYO1H 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 MYO1H gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 0

Gene Ontology (GO) - Cellular Components for MYO1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYO1H: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MYO1H Gene

Pathways & Interactions for MYO1H Gene

genes like me logo Genes that share pathways with MYO1H: view

Pathways by source for MYO1H Gene

Interacting Proteins for MYO1H Gene

Gene Ontology (GO) - Biological Process for MYO1H Gene

None

No data available for SIGNOR curated interactions for MYO1H Gene

Drugs & Compounds for MYO1H Gene

(1) Drugs for MYO1H Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lithium Experimental Pharma 0
genes like me logo Genes that share compounds with MYO1H: view

Transcripts for MYO1H Gene

mRNA/cDNA for MYO1H Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for MYO1H Gene

Myosin IH:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1H

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1H Gene

No ASD Table

Relevant External Links for MYO1H Gene

GeneLoc Exon Structure for
MYO1H
ECgene alternative splicing isoforms for
MYO1H

Expression for MYO1H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO1H Gene

mRNA differential expression in normal tissues according to GTEx for MYO1H Gene

This gene is overexpressed in Testis (x10.0).

Protein differential expression in normal tissues from HIPED for MYO1H Gene

This gene is overexpressed in Heart (58.5) and Adipocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYO1H Gene



Protein tissue co-expression partners for MYO1H Gene

NURSA nuclear receptor signaling pathways regulating expression of MYO1H Gene:

MYO1H

SOURCE GeneReport for Unigene cluster for MYO1H Gene:

Hs.512008

Evidence on tissue expression from TISSUES for MYO1H Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MYO1H: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO1H Gene

Orthologs for MYO1H Gene

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

Orthologs for MYO1H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO1H 35 34
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYO1H 35 34
  • 89.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYO1H 35 34
  • 89.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myo1h 17 35 34
  • 82.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO1H 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYO1H 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO1H 35 34
  • 74.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO1H 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo1h 34
  • 67.87 (n)
zebrafish
(Danio rerio)
Actinopterygii myo1hb 35 34
  • 65.36 (n)
OneToMany
myo1ha 35
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Myo61F 35
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11244 35
  • 52 (a)
OneToMany
Species where no ortholog for MYO1H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 MYO1H Gene

ENSEMBL:
Gene Tree for MYO1H (if available)
TreeFam:
Gene Tree for MYO1H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1H: view image

Paralogs for MYO1H Gene

(25) SIMAP similar genes for MYO1H Gene using alignment to 3 proteins:

  • MYO1H_HUMAN
  • B4DNW6_HUMAN
  • S4R387_HUMAN
genes like me logo Genes that share paralogs with MYO1H: view

Variants for MYO1H Gene

Sequence variations from dbSNP and Humsavar for MYO1H Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000013803 -- 109,439,461(+) C/G intron_variant
rs1000041859 -- 109,418,507(+) G/A intron_variant
rs1000058819 -- 109,407,681(+) G/A intron_variant
rs1000179407 -- 109,442,054(+) A/G intron_variant
rs1000187556 -- 109,410,839(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYO1H Gene

Variant ID Type Subtype PubMed ID
nsv1042699 CNV loss 25217958
nsv1160062 CNV duplication 26073780
nsv515873 CNV gain 19592680

Variation tolerance for MYO1H Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO1H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1H
Human Gene Mutation Database (HGMD)
MYO1H

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1H Gene

Disorders for MYO1H Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYO1H Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
central hypoventilation syndrome, congenital
  • cchs
spastic paraplegia 36, autosomal dominant
  • spg36
masa syndrome
  • mental retardation, aphasia, shuffling gait, and adducted thumbs
- elite association - COSMIC cancer census association via MalaCards
Search MYO1H in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO1H

genes like me logo Genes that share disorders with MYO1H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO1H Gene

Publications for MYO1H Gene

  1. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PMID: 20864672) Waterworth DM … Sandhu MS (Arteriosclerosis, thrombosis, and vascular biology 2010) 3 45 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns. (PMID: 30366217) Cunha A … Küchler EC (Archives of oral biology 2019) 3 58
  4. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. (PMID: 28779001) Spielmann M … Mundlos S (Journal of medical genetics 2017) 3 58
  5. Role of myosin 1H gene polymorphisms in mandibular retrognathism. (PMID: 27131252) Arun RM … Chitharanjan AB (American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 2016) 3 58

Products for MYO1H Gene

Sources for MYO1H Gene

Content
Loading form....