MYO1D myosin ID [Homo sapiens (human)] - Gene

Summary

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 several processes, including actin filament organization; actin filament-based movement; and early endosome to recycling endosome transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in colon (RPKM 49.5), small intestine (RPKM 32.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (32492522..32877124, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (33438289..33823203, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (30819540..31204142, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.
Title: Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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 EBI GWAS CatalogPubMed
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of pancreatic cancer in Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-141753 (e-PCR)
- UniSTS:171066

RH121212 (e-PCR)
- UniSTS:138323

RH16332 (e-PCR)
- UniSTS:64130

D17S1880 (e-PCR), detects polymorphism
- UniSTS:15257

SHGC-78626 (e-PCR)
- UniSTS:102082

SHGC-112514 (e-PCR)
- UniSTS:168668

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 binding	IPI Inferred from Physical Interaction more info	PubMed
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 more info	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)

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
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
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, Q7Z3N6

Related

ENSP00000464741.1, ENST00000394649.8
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