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    MYO1H myosin IH [ Homo sapiens (human) ]

    Gene ID: 283446, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MYO1Hprovided by HGNC
    Official Full Name
    myosin IHprovided by HGNC
    Primary source
    HGNC:HGNC:13879
    See related
    Ensembl:ENSG00000174527 MIM:614636; AllianceGenome:HGNC:13879
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCHS2
    Summary
    Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization; actin filament-based movement; and endocytosis. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and plasma membrane. Implicated in congenital central hypoventilation syndrome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See MYO1H in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109310468..109448379)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109285438..109423273)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109785705..109886184)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369974 Neighboring gene acetyl-CoA carboxylase beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109677215-109677716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109677717-109678216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6984 Neighboring gene Sharpr-MPRA regulatory region 176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109722785-109723628 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:109725470-109725629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109725794-109726403 Neighboring gene MPRA-validated peak1938 silencer Neighboring gene Sharpr-MPRA regulatory region 9197 Neighboring gene MPRA-validated peak1941 silencer Neighboring gene forkhead box N4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6985 Neighboring gene long intergenic non-protein coding RNA 1486 Neighboring gene MPRA-validated peak1943 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109871570-109872074 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109896331-109897136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109897944-109898749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109898750-109899556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109900363-109901169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109914018-109914753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6986 Neighboring gene potassium channel tetramerization domain containing 10 Neighboring gene ubiquitin protein ligase E3B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109976965-109977466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109978915-109979477

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia. Selçuk E, et al. Mol Genet Genomics, 2022 Jul. PMID 35704118
    2. Genetic variation in myosin 1H contributes to mandibular prognathism. Tassopoulou-Fishell M, et al. Am J Orthod Dentofacial Orthop, 2012 Jan. PMID 22196185, Free PMC Article
    3. Role of myosin 1H gene polymorphisms in mandibular retrognathism. Arun RM, et al. Am J Orthod Dentofacial Orthop, 2016 May. PMID 27131252
    4. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. Spielmann M, et al. J Med Genet, 2017 Nov. PMID 28779001
    5. Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population. Dalaie K, et al. Dent Med Probl, 2020 Oct-Dec. PMID 33448167

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
      Title: MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
    2. Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.
      Title: Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.
    3. A nonsynonymous common variant of MYO1H rs3825393, C>T, p.Pro1001Leu, was identified to be significantly associated with MP.
      Title: Identification and Functional Studies of MYO1H for Mandibular Prognathism.
    4. ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns in Brazilian populations.
      Title: Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.
    5. MYO1H is an important gene in CO2 sensitivity and respiratory control and has been associated with a rare recessive form of congenital central hypoventilation.
      Title: Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.
    6. The single nucleotide polymorphism rs3825393 of the MYO1H gene showed a statistically significant association with mandibular retrognathism
      Title: Role of myosin 1H gene polymorphisms in mandibular retrognathism.
    7. can contribute to mandibular prognathism
      Title: Genetic variation in myosin 1H contributes to mandibular prognathism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
    MedGen: C5561963 OMIM: 619482 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37587

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    unconventional myosin-Ih
    Names
    myosin-1H
    myosin-Ih

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001101421.4 → NP_001094891.4  unconventional myosin-Ih

      Status: VALIDATED

      Source sequence(s)
      AC007570, AC012384
      Consensus CDS
      CCDS53826.2
      UniProtKB/Swiss-Prot
      F5H3C6, Q8N1T3
      UniProtKB/TrEMBL
      A0A140TA25
      Related
      ENSP00000439182.2, ENST00000310903.10
      Conserved Domains (1) summary
      cd01378
      Location:42 → 694
      MYSc_Myo1; class I myosin, motor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      109310468..109448379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538223.3 → XP_011536525.1  unconventional myosin-Ih isoform X1

      UniProtKB/Swiss-Prot
      F5H3C6, Q8N1T3
      Conserved Domains (3) summary
      smart00242
      Location:8 → 711
      MYSc; Myosin. Large ATPases
      cd01378
      Location:26 → 700
      MYSc_Myo1; class I myosin, motor domain
      pfam06017
      Location:856 → 1019
      Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

    2. XM_047428738.1 → XP_047284694.1  unconventional myosin-Ih isoform X2

      UniProtKB/Swiss-Prot
      F5H3C6, Q8N1T3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      109285438..109423273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371837.1 → XP_054227812.1  unconventional myosin-Ih isoform X1

      UniProtKB/Swiss-Prot
      F5H3C6, Q8N1T3

    2. XM_054371838.1 → XP_054227813.1  unconventional myosin-Ih isoform X2

      UniProtKB/Swiss-Prot
      F5H3C6, Q8N1T3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173597.1: Suppressed sequence

      Description
      NM_173597.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1T3.2 GenPept UniProtKB/Swiss-Prot:Q8N1T3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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