Myo5b myosin VB [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myo5bprovided by MGI
Official Full Name: myosin VBprovided by MGI
Primary source: MGI:MGI:106598
See related: Ensembl:ENSMUSG00000025885 AllianceGenome:MGI:106598
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1119
Summary: Predicted to enable several functions, including ATP hydrolysis activity; ionotropic glutamate receptor binding activity; and small GTPase binding activity. Involved in modulation of chemical synaptic transmission. Acts upstream of or within protein transmembrane transport. Located in brush border. Is active in Schaffer collateral - CA1 synapse. Is expressed in central nervous system; genitourinary system; gut; heart; and skeletal muscle. Used to study microvillus inclusion disease. Human ortholog(s) of this gene implicated in microvillus inclusion disease and progressive familial intrahepatic cholestasis. Orthologous to human MYO5B (myosin VB). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in large intestine adult (RPKM 24.0), genital fat pad adult (RPKM 20.9) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E2; 18 50.7 cM

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (74575435..74905769)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (74442364..74772698)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myosin Vb as a tumor suppressor gene in intestinal cancer.
Title: Myosin Vb as a tumor suppressor gene in intestinal cancer.
Myosin 5b is required for proper localization of the intermicrovillar adhesion complex in the intestinal brush border.
Title: Myosin 5b is required for proper localization of the intermicrovillar adhesion complex in the intestinal brush border.
Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance.
Title: Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance.
Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis.
Title: Recruitment of Polarity Complexes and Tight Junction Proteins to the Site of Apical Bulk Endocytosis.
Myo5b defects result in Protein Kinase A stimulation that activates residual channels on the surface when intestinal epithelia are exposed to glucocorticoids at birth.
Title: Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects.
The results suggest that apical bulk endocytosis in Myo5b KO enterocytes resembles activity-dependent bulk endocytosis, the primary mechanism for synaptic vesicle uptake during intense neuronal stimulation.
Title: Loss of myosin Vb promotes apical bulk endocytosis in neonatal enterocytes.
Authors identified a novel role for MYO5B in the regulation of late endosome size control and identify the inability to control late endosome size as an unexpected novel mechanism underlying defects in cell division orientation and epithelial architecture.
Title: Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation.
Data suggest that single-headed myosin-5B is intermediate-duty ratio motor with kinetic ATPase cycle, rate-limited by phosphate release; in transition to high-duty ratio motor, second head generates strain/gating in myosin-5B dimer that alter kinetic signature by slowing actin-activated ADP release to become rate-limiting; myosin-5B mutations cause microvillus inclusion disease and impact myosin motor function.
Title: Kinetic signatures of myosin-5B, the motor involved in microvillus inclusion disease.
Myo5b knockout mice closely resemble the phenotype of MVID patients and constitute a useful model to further investigate the underlying molecular mechanism of mirovillus inclusion disease.
Title: Myo5b knockout mice as a model of microvillus inclusion disease.
Data show that loss of myosin Vb (MYO5B) disturbs both apical and basolateral trafficking of proteins and causes microvillus inclusion disease (MVID).
Title: An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237843

AI661750 (e-PCR)
- UniSTS:181148

Myo5b (e-PCR), detects polymorphism
- UniSTS:545963

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables actin 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	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables cytoskeletal motor activity	IEA Inferred from Electronic Annotation more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendritic spine morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter receptor transport, endosome to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of exosomal secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of modification of postsynaptic structure	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle recycling via endosome	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport in synapse	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in apical cortex	ISO Inferred from Sequence Orthology more info
located_in apical cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic recycling endosome membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: unconventional myosin-Vb

Names: myosin-Vb

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_201600.2 → NP_963894.1 unconventional myosin-Vb

See identical proteins and their annotated locations for NP_963894.1

Status: VALIDATED

Source sequence(s)

AC147992, AC148001, AC148002, AK033484, BQ557090, BU610647, BY245557, CD352410, CF741517, CJ052777, CV558709, DV655888

Consensus CDS

CCDS37858.1

UniProtKB/Swiss-Prot

P21271, Q148A3, Q69ZR6, Q811F6, Q91X59

UniProtKB/TrEMBL

G5E8G6

Related

ENSMUSP00000073790.7, ENSMUST00000074157.13

Conserved Domains (8) summary

smart00015
Location:861 → 881

IQ; Calmodulin-binding motif

smart00242
Location:64 → 761

MYSc; Myosin. Large ATPases

COG4942
Location:1145 → 1435

EnvC; Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning]

cd15477
Location:1444 → 1815

Myo5b_CBD; Cargo binding domain of myosin 5b

cd01380
Location:83 → 750

MYSc_Myo5; class V myosin, motor domain

pfam07956
Location:901 → 993

DUF1690; Protein of Unknown function (DUF1690)

pfam08614
Location:979 → 1208

ATG16; Autophagy protein 16 (ATG16)

cl23720
Location:970 → 1060

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

74575435..74905769

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525714.4 → XP_006525777.1 unconventional myosin-Vb isoform X1

UniProtKB/TrEMBL

G3X9Y9

Conserved Domains (4) summary

COG4942
Location:1136 → 1449

EnvC; Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:11 → 1268

COG5022; Myosin heavy chain [General function prediction only]

cd15477
Location:1475 → 1846

Myo5b_CBD; Cargo binding domain of myosin 5b

cd01380
Location:83 → 750

MYSc_Myo5; class V myosin, motor domain
XM_006525715.5 → XP_006525778.1 unconventional myosin-Vb isoform X2

UniProtKB/Swiss-Prot

P21271, Q148A3, Q69ZR6, Q811F6, Q91X59

Conserved Domains (4) summary

COG4942
Location:1158 → 1448

EnvC; Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:19 → 1276

COG5022; Myosin heavy chain [General function prediction only]

cd15477
Location:1457 → 1828

Myo5b_CBD; Cargo binding domain of myosin 5b

cd01380
Location:91 → 758

MYSc_Myo5; class V myosin, motor domain
XM_006525716.4 → XP_006525779.1 unconventional myosin-Vb isoform X3

UniProtKB/Swiss-Prot

P21271, Q148A3, Q69ZR6, Q811F6, Q91X59

Conserved Domains (4) summary

COG4942
Location:1153 → 1443

EnvC; Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:19 → 1271

COG5022; Myosin heavy chain [General function prediction only]

cd15477
Location:1452 → 1823

Myo5b_CBD; Cargo binding domain of myosin 5b

cd01380
Location:91 → 758

MYSc_Myo5; class V myosin, motor domain
XM_036161024.1 → XP_036016917.1 unconventional myosin-Vb isoform X4

Conserved Domains (2) summary

COG0419
Location:25 → 576

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

cd15477
Location:561 → 932

Myo5b_CBD; Cargo binding domain of myosin 5b

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_008661.2: Suppressed sequence

Description

NM_008661.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.