MYO1E myosin IE [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO1Eprovided by HGNC
Official Full Name: myosin IEprovided by HGNC
Primary source: HGNC:HGNC:7599
See related: Ensembl:ENSG00000157483 MIM:601479; AllianceGenome:HGNC:7599
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FSGS6; MYO1C; HuncM-IC
Summary: This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
Annotation information: Note: MYO1C (Gene ID: 4641) and MYO1E (Gene ID: 4643) share the MYO1C symbol/alias in common. MYO1C is a widely used alternative name for myosin IE (MYO1E), which can be confused with the official symbol for myosin IC (MYO1C). [09 Jul 2018]
Expression: Ubiquitous expression in colon (RPKM 17.7), gall bladder (RPKM 16.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q22.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (59132434..59372871, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (56934526..57174966, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (59424633..59665070, complement)

Chromosome 15 - NC_000015.10 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

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myo1e overexpression in lung adenocarcinoma is associated with increased risk of mortality.
Title: Myo1e overexpression in lung adenocarcinoma is associated with increased risk of mortality.
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Title: Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.
Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
Title: Steroid-Resistant Nephrotic Syndrome-Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity.
TH12 domain of Myo1e serves as a regulatory component to connect phosphatidylinositol signaling to F-actin polymerization at the podosome.
Title: Tail domains of myosin-1e regulate phosphatidylinositol signaling and F-actin polymerization at the ventral layer of podosomes.
our data suggests that MYO1E contributes to breast tumor malignancy and regulates the differentiation and proliferation state of breast tumor cells.
Title: Myosin 1e promotes breast cancer malignancy by enhancing tumor cell proliferation and stimulating tumor cell de-differentiation.
The ERK signaling pathway thus promotes cell motility through regulation of the subcellular localization of Myo1E.
Title: ERK signaling promotes cell motility by inducing the localization of myosin 1E to lamellipodial tips.
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Title: Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Myo1e is a key component contributing to the functional integrity of podocytes.
Title: Myo1e impairment results in actin reorganization, podocyte dysfunction, and proteinuria in zebrafish and cultured podocytes.
MYO1E mutations are not a major cause of Chinese familial Steroid-resistant nephrotic syndrome.
Title: [Mutational analysis of MYO1E in Chinese children with familial steroid-resistant nephrotic syndrome].
Homozygosity mapping and exome sequencing in a consanguineous kindred identified MYO1E and NEIL1 as novel candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Title: Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Focal segmental glomerulosclerosis 6 MedGen: C3279905 OMIM: 614131 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variation contributes to the genetic architecture of social communication traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. 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

RH102207 (e-PCR)
- UniSTS:96541

STS-L17330 (e-PCR)
- UniSTS:34108

SHGC-143944 (e-PCR)
- UniSTS:172105

SHGC-53200 (e-PCR)
- UniSTS:40031

RH46187 (e-PCR)
- UniSTS:10350

RH68605 (e-PCR)
- UniSTS:637

D15S1194 (e-PCR)
- UniSTS:35978

RH121991 (e-PCR)
- UniSTS:132244

G44710 (e-PCR)
- UniSTS:95185

STS-AA031593 (e-PCR)
- UniSTS:14585

STS-U14391 (e-PCR)
- UniSTS:52220

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein 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 endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glomerular basement membrane development	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerular filtration	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus development	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in podocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in post-embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	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 adherens junction	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border	IEA Inferred from Electronic Annotation more info
colocalizes_with clathrin-coated endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cuticular plate	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in microvillus	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	TAS Traceable Author Statement more info	PubMed
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-Ie

Names: MYO1E variant protein; myosin-IC; unconventional myosin 1E

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.

Genomic

NG_031999.1 RefSeqGene

Range

5001..241904

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004998.4 → NP_004989.2 unconventional myosin-Ie

See identical proteins and their annotated locations for NP_004989.2

Status: REVIEWED

Source sequence(s)

AC092757, AC092868, BC098392

Consensus CDS

CCDS32254.1

UniProtKB/Swiss-Prot

Q12965, Q14778

UniProtKB/TrEMBL

Q4KMR3

Related

ENSP00000288235.4, ENST00000288235.9

Conserved Domains (4) summary

cd11827
Location:1056 → 1107

SH3_MyoIe_If_like; Src homology 3 domain of Myosins Ie, If, and similar proteins

smart00242
Location:14 → 692

MYSc; Myosin. Large ATPases

cd01378
Location:33 → 679

MYSc_Myo1; class I myosin, motor domain

pfam06017
Location:719 → 902

Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding