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MYO1E myosin IE [ Homo sapiens (human) ]

Gene ID: 4643, updated on 11-Sep-2019

Summary

Official Symbol
MYO1Eprovided by HGNC
Official Full Name
myosin IEprovided by HGNC
Primary source
HGNC:HGNC:7599
See related
Ensembl:ENSG00000157483 MIM:601479
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

Genomic context

See MYO1E in Genome Data Viewer
Location:
15q22.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (59132434..59372871, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59428168..59665071, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 111 Neighboring gene ribosomal protein L21 pseudogene 113 Neighboring gene Sharpr-MPRA regulatory region 4265 Neighboring gene cyclin B2 Neighboring gene microRNA 2116 Neighboring gene RNA, U4 small nuclear 80, pseudogene Neighboring gene lactate dehydrogenase A like 6B Neighboring gene RNA, U6 small nuclear 212, pseudogene Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene Neighboring gene ribosomal protein L7a pseudogene Neighboring gene family with sequence similarity 81 member A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104638

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
microfilament motor activity TAS
Traceable Author Statement
more info
PubMed 
motor activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament-based movement TAS
Traceable Author Statement
more info
PubMed 
endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
glomerular basement membrane development ISS
Inferred from Sequence or Structural Similarity
more info
 
glomerular filtration ISS
Inferred from Sequence or Structural Similarity
more info
 
glomerular visceral epithelial cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
nitrogen compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
post-embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with clathrin-coated endocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
myosin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
unconventional myosin-Ie
Names
MYO1E variant protein
myosin-IC
unconventional myosin 1E

NCBI Reference Sequences (RefSeq)

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

  1. NG_031999.1 RefSeqGene

    Range
    5001..241904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004998.4NP_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
    UniProtKB/TrEMBL
    Q4KMR3
    Related
    ENSP00000288235.4, ENST00000288235.8
    Conserved Domains (4) summary
    cd11827
    Location:10561107
    SH3_MyoIe_If_like; Src homology 3 domain of Myosins Ie, If, and similar proteins
    smart00242
    Location:14692
    MYSc; Myosin. Large ATPases
    cd01378
    Location:33679
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:719902
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    59132434..59372871 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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