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MYO1D myosin ID [ Homo sapiens (human) ]

Gene ID: 4642, updated on 11-Apr-2024

Summary

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Official Symbol
MYO1Dprovided by HGNC
Official Full Name
myosin IDprovided by HGNC
Primary source
HGNC:HGNC:7598
See related
Ensembl:ENSG00000176658 MIM:606539; AllianceGenome:HGNC:7598
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
myr4; PPP1R108
Summary
Enables protein domain specific binding activity. Predicted to be involved in actin filament organization; early endosome to recycling endosome transport; and vesicle transport along actin filament. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon (RPKM 49.5), small intestine (RPKM 32.7) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32492522..32877124, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33438289..33823203, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30819540..31204142, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30771309-30771924 Neighboring gene proteasome 26S subunit, non-ATPase 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30812797-30813298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8423 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30814538-30815097 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:30817300-30817421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8425 Neighboring gene uncharacterized LOC124903982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30824438-30824945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30830591-30831361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30832133-30832903 Neighboring gene uncharacterized LOC105371734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8426 Neighboring gene uncharacterized LOC107985012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30849483-30850006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30850007-30850529 Neighboring gene cyclin dependent kinase 5 regulatory subunit 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:30873137-30873636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12036 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:31010379-31011000 Neighboring gene MPRA-validated peak2803 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8429 Neighboring gene Sharpr-MPRA regulatory region 12414 Neighboring gene uncharacterized LOC124903981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12039 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:31203674-31203861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:31213662-31214258 Neighboring gene CRISPRi-validated MYO1D non-hub enhancer 1 Neighboring gene CRISPRi-validated cis-regulatory element chr17.1747 Neighboring gene Sharpr-MPRA regulatory region 12135 Neighboring gene MYO1D divergent transcript Neighboring gene CRISPRi-validated MYO1D hub enhancer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:31244864-31245495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31262798-31263448 Neighboring gene Sharpr-MPRA regulatory region 812 Neighboring gene H2B.N variant histone 1 Neighboring gene transmembrane protein 98

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. Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study. Kim SJ, et al. Circ J, 2012. PMID 22322875
  2. High density SNP association study of a major autism linkage region on chromosome 17. Stone JL, et al. Hum Mol Genet, 2007 Mar 15. PMID 17376794
  3. Expression and localization of myosin-1d in the developing nervous system. Benesh AE, et al. Brain Res, 2012 Feb 27. PMID 22284616, Free PMC Article
  4. Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns. Castaldi PJ, et al. Am J Respir Crit Care Med, 2014 Aug 15. PMID 25006744, Free PMC Article
  5. Genome-wide association study of pancreatic cancer in Japanese population. Low SK, et al. PLoS One, 2010 Jul 29. PMID 20686608, Free PMC Article

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Top single-nucleotide polymorphism rs379123 in MYO1D is located within genes that function in cell-cell signaling and cell migration.
    Title: Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
    Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

EBI GWAS Catalog

Description
Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.
EBI GWAS Catalog
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
EBI GWAS Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
EBI GWAS Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
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

  • KIAA0727

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 actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables calcium-dependent protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfilament motor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 cellular localization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in early endosome to recycling endosome transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axolemma ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in brush border ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in microvillus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in myelin sheath ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of myosin complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in smooth endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
unconventional myosin-Id
Names
myosin-I gamma
protein phosphatase 1, regulatory subunit 108

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_001303279.2 → NP_001290208.1  unconventional myosin-Id isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB018270, AK127942, BC030602, DB363168
    Consensus CDS
    CCDS76991.1
    UniProtKB/TrEMBL
    J3QRN6, Q7Z3N6
    Related
    ENSP00000464305.1, ENST00000579584.5
    Conserved Domains (2) summary
    cd01378
    Location:24 → 682
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:803 → 957
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

  2. NM_001303280.2 → NP_001290209.1  unconventional myosin-Id isoform 3

    See identical proteins and their annotated locations for NP_001290209.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC030602
    Consensus CDS
    CCDS76992.1
    UniProtKB/TrEMBL
    J3KRL0
    Related
    ENSP00000462055.1, ENST00000583621.1
    Conserved Domains (1) summary
    cl22853
    Location:24 → 433
    Motor_domain; Myosin and Kinesin motor domain

  3. NM_001411088.1 → NP_001398017.1  unconventional myosin-Id isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007982, AC025211, AC079336, AC084809
    Consensus CDS
    CCDS92288.1
    UniProtKB/TrEMBL
    K7EIG7
    Related
    ENSP00000464741.1, ENST00000394649.8

  4. NM_015194.3 → NP_056009.1  unconventional myosin-Id isoform 1

    See identical proteins and their annotated locations for NP_056009.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB018270, AC007982, BC030602, BC030796
    Consensus CDS
    CCDS32615.1
    UniProtKB/Swiss-Prot
    A6H8V3, O94832, Q8NHP9
    UniProtKB/TrEMBL
    Q7Z3N6
    Related
    ENSP00000324527.5, ENST00000318217.10
    Conserved Domains (3) summary
    smart00242
    Location:4 → 694
    MYSc; Myosin. Large ATPases
    cd01378
    Location:24 → 682
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:803 → 997
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    32492522..32877124 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024685.3 → XP_016880174.1  unconventional myosin-Id isoform X1

    UniProtKB/TrEMBL
    Q7Z3N6

RNA

  1. XR_001752521.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    33438289..33823203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316247.1 → XP_054172222.1  unconventional myosin-Id isoform X1

RNA

  1. XR_008484823.1 RNA Sequence

  2. XR_008484822.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94832.2 GenPept UniProtKB/Swiss-Prot:O94832

Gene LinkOut

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

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