Myo5a myosin VA [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myo5aprovided by MGI
Official Full Name: myosin VAprovided by MGI
Primary source: MGI:MGI:105976
See related: Ensembl:ENSMUSG00000034593 AllianceGenome:MGI:105976
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: d; Dbv; MVa; flr; Myo5; MyoVA; Sev-1; flail; d-120J; 9630007J19Rik
Summary: Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to insulin stimulus; establishment of endoplasmic reticulum localization to postsynapse; and regulation of postsynaptic cytosolic calcium ion concentration. Acts upstream of or within several processes, including melanosome transport; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; and secretion by cell. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and photoreceptor outer segment. Part of unconventional myosin complex. Is active in glutamatergic synapse; postsynapse; and smooth endoplasmic reticulum. Is expressed in several structures, including central nervous system; peripheral nervous system ganglion; retina; secondary oocyte; and stomach. Used to study Griscelli syndrome type 1. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cortex adult (RPKM 22.9), frontal lobe adult (RPKM 21.0) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 42.26 cM

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (74975183..75130970)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (75069799..75223688)

Chromosome 9 - NC_000075.7 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: 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?

BMP-2 regulates the expression of myosin Va via smad in melan-a melanocyte.
Title: BMP-2 regulates the expression of myosin Va via smad in melan-a melanocyte.
Circ-FNDC3B Functions as an Oncogenic Factor in Esophageal Squamous Cell Carcinoma via Upregulating MYO5A by Absorbing miR-136-5p and miR-370-3p.
Title: Circ-FNDC3B Functions as an Oncogenic Factor in Esophageal Squamous Cell Carcinoma via Upregulating MYO5A by Absorbing miR-136-5p and miR-370-3p.
Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Title: Myosin Va, a Novel Interaction Partner of STXBP1, Is Required to Transport Syntaxin1A to the Plasma Membrane.
Caldendrin and myosin V regulate synaptic spine apparatus localization via ER stabilization in dendritic spines.
Title: Caldendrin and myosin V regulate synaptic spine apparatus localization via ER stabilization in dendritic spines.
Novel mutations in the Myo5a gene cause a dilute coat color phenotype in mice.
Title: Novel mutations in the Myo5a gene cause a dilute coat color phenotype in mice.
Myosin Va Brain-Specific Mutation Alters Mouse Behavior and Disrupts Hippocampal Synapses.
Title: Myosin Va Brain-Specific Mutation Alters Mouse Behavior and Disrupts Hippocampal Synapses.
Calcium triggers the dissociation of myosin-Va from ribosomes in ribonucleoprotein complexes.
Title: Calcium triggers the dissociation of myosin-Va from ribosomes in ribonucleoprotein complexes.
propose that Rab36 stimulates RILPL2 to interact with the myosin-5a globular tail domain (GTD); this interaction then induces exposure of the melanophilin-binding site in the GTD, enabling melanophilin to interact with the GTD and activate myosin-5a motor activity
Title: The cargo adaptor proteins RILPL2 and melanophilin co-regulate myosin-5a motor activity.
When actin and microtubules were present simultaneously, melanophilin's phosphorylation state enforced track selection of the Rab27a/melanophilin/myosin Va transport complex.
Title: Myosin Va's adaptor protein melanophilin enforces track selection on the microtubule and actin networks in vitro.
In the motor domain-IQ1/Ca(2+)-CaM structure, the N-lobe and the C-lobe of Ca(2+)-CaM adopt an open conformation and grip the C-terminal and the N-terminal portions of the IQ1, respectively.
Title: Calmodulin in complex with the first IQ motif of myosin-5a functions as an intact calcium sensor.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Variation

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Alleles

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

Chemically and radiation induced (1)
Chemically induced (ENU) (36) 1 citation
Chemically induced (other) (2) 1 citation
Radiation induced (11)
Spontaneous (55) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI661011 (e-PCR)
- UniSTS:164411

MARC_17607-17608:1018452356:1 (e-PCR)
- UniSTS:268354

MYO5A (e-PCR)
- UniSTS:503148

X57377 (e-PCR)
- UniSTS:159899

NoName (e-PCR)
- UniSTS:224718

AI413174 (e-PCR)
- UniSTS:179935

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables SNARE binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal motor activity	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal motor activity	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	ISO Inferred from Sequence Orthology more info
enables microfilament motor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables syntaxin-1 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
acts_upstream_of_or_within actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament-based movement	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anagen	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axo-dendritic protein transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endoplasmic reticulum localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of endoplasmic reticulum localization to postsynapse	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of endoplasmic reticulum localization to postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotion involved in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within long-chain fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in macroautophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within melanin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of dopamine secretion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within odontogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular associated smooth muscle cell migration	ISO Inferred from Sequence Orthology more info
involved_in post-Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in reactive gliosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of exocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within secretory granule localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secretory granule localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle transport along actin filament	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vesicle transport along actin filament	TAS Traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay 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
colocalizes_with actin filament	ISO Inferred from Sequence Orthology more info
located_in actomyosin	IDA Inferred from Direct Assay more info	PubMed
part_of actomyosin, myosin complex part	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
colocalizes_with early endosome	ISO Inferred from Sequence Orthology more info
colocalizes_with endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in filopodium tip	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in insulin-responsive compartment	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with late endosome	ISO Inferred from Sequence Orthology more info
colocalizes_with lysosome	ISO Inferred from Sequence Orthology more info
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
part_of myosin complex	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
colocalizes_with peroxisome	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
colocalizes_with recycling endosome	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	ISO Inferred from Sequence Orthology more info
is_active_in smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in smooth endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
part_of unconventional myosin complex	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: unconventional myosin-Va

Names: dilute lethal-20J protein; dilute myosin heavy chain, non-muscle; flailer; myosin-Va

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_010864.2 → NP_034994.2 unconventional myosin-Va

See identical proteins and their annotated locations for NP_034994.2

Status: VALIDATED

Source sequence(s)

AC133947, AK002362, AK134367, AK149701, CN459715, X57377

Consensus CDS

CCDS52860.1

UniProtKB/Swiss-Prot

E9PUE5, Q99104

Related

ENSMUSP00000116028.2, ENSMUST00000123128.8

Conserved Domains (7) summary

smart00015
Location:813 → 835

IQ; Calmodulin-binding motif

cd15478
Location:1479 → 1853

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain

pfam00063
Location:72 → 751

Myosin_head; Myosin head (motor domain)

pfam00261
Location:928 → 1177

Tropomyosin; Tropomyosin

pfam15898
Location:942 → 1041

PRKG1_interact; cGMP-dependent protein kinase interacting domain

cl23720
Location:999 → 1098

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_000075.7 Reference GRCm39 C57BL/6J

Range

74975183..75130970

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006510827.5 → XP_006510890.1 unconventional myosin-Va isoform X1

Conserved Domains (3) summary

COG5022
Location:7 → 1448

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1506 → 1880

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_006510829.5 → XP_006510892.1 unconventional myosin-Va isoform X3

UniProtKB/TrEMBL

D3Z4J3

Related

ENSMUSP00000117493.3, ENSMUST00000155282.9

Conserved Domains (4) summary

COG5022
Location:7 → 1295

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1481 → 1855

Myo5a_CBD; Cargo binding domain of myosin 5a

TIGR02168
Location:1156 → 1445

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_006510832.5 → XP_006510895.1 unconventional myosin-Va isoform X6

UniProtKB/TrEMBL

D3YZ62

Related

ENSMUSP00000120444.2, ENSMUST00000136731.8

Conserved Domains (4) summary

COG1196
Location:1250 → 1422

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:7 → 1295

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1454 → 1828

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_006510828.5 → XP_006510891.1 unconventional myosin-Va isoform X2

Conserved Domains (4) summary

COG1196
Location:1155 → 1481

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:7 → 1291

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1503 → 1877

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_006510830.5 → XP_006510893.1 unconventional myosin-Va isoform X4

Conserved Domains (4) summary

COG1196
Location:1157 → 1441

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:7 → 1291

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1478 → 1852

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_006510831.5 → XP_006510894.1 unconventional myosin-Va isoform X5

Conserved Domains (4) summary

COG1196
Location:1157 → 1454

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5022
Location:7 → 1291

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1476 → 1850

Myo5a_CBD; Cargo binding domain of myosin 5a

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_030244103.2 → XP_030099963.1 unconventional myosin-Va isoform X7

Conserved Domains (4) summary

COG5022
Location:7 → 1291

COG5022; Myosin heavy chain [General function prediction only]

cd15478
Location:1451 → 1825

Myo5a_CBD; Cargo binding domain of myosin 5a

TIGR04211
Location:1243 → 1350

SH3_and_anchor; SH3 domain protein

cd01380
Location:83 → 751

MYSc_Myo5; class V myosin, motor domain
XM_036154671.1 → XP_036010564.1 unconventional myosin-Va isoform X9

Conserved Domains (5) summary

smart00015
Location:25 → 47

IQ; Calmodulin-binding motif

COG0419
Location:201 → 683

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

COG1196
Location:114 → 437

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21759
Location:41 → 79

CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins

cl03379
Location:715 → 1089

Myo5-like_CBD; Cargo binding domain of myosin 5 and similar proteins
XM_036154670.1 → XP_036010563.1 unconventional myosin-Va isoform X8

Conserved Domains (5) summary

smart00015
Location:25 → 47

IQ; Calmodulin-binding motif

COG0419
Location:201 → 686

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

COG1196
Location:114 → 437

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd21759
Location:41 → 79

CBD_MYO6-like; calmodulin binding domain found in unconventional myosin-VI and similar proteins

cl03379
Location:718 → 1092

Myo5-like_CBD; Cargo binding domain of myosin 5 and similar proteins