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MYO1H myosin IH [ Homo sapiens (human) ]

Gene ID: 283446, updated on 3-Apr-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 and vesicle transport along actin filament. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
12q24.11
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109310468..109448379)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109285438..109423273)
105.20220307 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. 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
  3. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. Spielmann M, et al. J Med Genet, 2017 Nov. PMID 28779001
  4. Role of myosin 1H gene polymorphisms in mandibular retrognathism. Arun RM, et al. Am J Orthod Dentofacial Orthop, 2016 May. PMID 27131252
  5. 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

See all (16) 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
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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)

Genotypes

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_2023_10

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

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

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

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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