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MYO1A myosin IA [ Homo sapiens (human) ]

Gene ID: 4640, updated on 3-Nov-2018

Summary

Official Symbol
MYO1Aprovided by HGNC
Official Full Name
myosin IAprovided by HGNC
Primary source
HGNC:HGNC:7595
See related
Ensembl:ENSG00000166866 MIM:601478; Vega:OTTHUMG00000149899
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
BBMI; MIHC; MYHL; DFNA48
Summary
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Biased expression in duodenum (RPKM 156.2), small intestine (RPKM 147.7) and 2 other tissues See more
Orthologs

Genomic context

See MYO1A in Genome Data Viewer
Location:
12q13.3
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57028517..57050765, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57422301..57444549, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 39 Neighboring gene tachykinin 3 Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene NGFI-A binding protein 2 Neighboring gene signal transducer and activator of transcription 6

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
motor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
microvillus assembly IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border IDA
Inferred from Direct Assay
more info
PubMed 
cortical actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
plasma membrane raft IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
unconventional myosin-Ia
Names
brush border myosin I
myosin I heavy chain
myosin, heavy polypeptide-like (100kD)

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_012104.1 RefSeqGene

    Range
    4993..26593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256041.1NP_001242970.1  unconventional myosin-Ia

    See identical proteins and their annotated locations for NP_001242970.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF105424, AK312431, D25786
    Consensus CDS
    CCDS8929.1
    UniProtKB/Swiss-Prot
    Q9UBC5
    UniProtKB/TrEMBL
    B2R643
    Related
    ENSP00000393392.2, OTTHUMP00000195074, ENST00000442789.6, OTTHUMT00000313833
    Conserved Domains (4) summary
    smart00015
    Location:742764
    IQ; Calmodulin-binding motif
    smart00242
    Location:8694
    MYSc; Myosin. Large ATPases
    cd01378
    Location:22681
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:8471021
    Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding
  2. NM_005379.3NP_005370.1  unconventional myosin-Ia

    See identical proteins and their annotated locations for NP_005370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC059387, D25786
    Consensus CDS
    CCDS8929.1
    UniProtKB/Swiss-Prot
    Q9UBC5
    Related
    ENSP00000300119.3, OTTHUMP00000195072, ENST00000300119.7, OTTHUMT00000313830
    Conserved Domains (4) summary
    smart00015
    Location:742764
    IQ; Calmodulin-binding motif
    smart00242
    Location:8694
    MYSc; Myosin. Large ATPases
    cd01378
    Location:22681
    MYSc_Myo1; class I myosin, motor domain
    pfam06017
    Location:8471021
    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.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    57028517..57050765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538373.2XP_011536675.1  unconventional myosin-Ia isoform X1

    Conserved Domains (3) summary
    smart00015
    Location:742764
    IQ; Calmodulin-binding motif
    smart00242
    Location:8694
    MYSc; Myosin. Large ATPases
    cd01378
    Location:22681
    MYSc_Myo1; class I myosin, motor domain
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