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MYO5B myosin VB [ Homo sapiens (human) ]

Gene ID: 4645, updated on 5-Mar-2024

Summary

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Official Symbol
MYO5Bprovided by HGNC
Official Full Name
myosin VBprovided by HGNC
Primary source
HGNC:HGNC:7603
See related
Ensembl:ENSG00000167306 MIM:606540; AllianceGenome:HGNC:7603
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
DIAR2; MVID1; PFIC10
Summary
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
Expression
Broad expression in small intestine (RPKM 15.1), duodenum (RPKM 14.8) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
18q21.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49822789..50195147, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50024565..50396878, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47349159..47721517, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9451 Neighboring gene acetyl-CoA acyltransferase 2 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47371819-47372320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47373043-47373544 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382468-47382968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382969-47383469 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 Neighboring gene Sharpr-MPRA regulatory region 7262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47430620-47431120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47431121-47431621 Neighboring gene RNA, 5S ribosomal pseudogene 457 Neighboring gene uncharacterized LOC124904299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500397-47500898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500899-47501398 Neighboring gene NANOG hESC enhancer GRCh37_chr18:47600579-47601125 Neighboring gene Sharpr-MPRA regulatory region 3103 Neighboring gene adenosine deaminase domain containing 1 pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47626164-47627363 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47653727-47654926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13312 Neighboring gene microRNA 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13313 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:47766185-47767384 Neighboring gene uncharacterized LOC124904300 Neighboring gene cilia and flagella associated protein 53

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis. Engevik KA, et al. PLoS One, 2023. PMID 36662766, Free PMC Article
  2. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype. Matarazzo L, et al. J Pediatr Gastroenterol Nutr, 2022 May 1. PMID 35129155
  3. Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry. Hassan K, et al. Cold Spring Harb Mol Case Stud, 2022 Feb. PMID 34815247, Free PMC Article
  4. MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation. Wang L, et al. Liver Int, 2022 Feb. PMID 34811877
  5. Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis. van IJzendoorn SCD, et al. Hepatology, 2020 Oct. PMID 32583448, Free PMC Article

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10.
    Title: Coronavirus M Protein Trafficking in Epithelial Cells Utilizes a Myosin Vb Splice Variant and Rab10.
  2. Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis.
    Title: Bioinformatics reveal elevated levels of Myosin Vb in uterine corpus endometrial carcinoma patients which correlates to increased cell metabolism and poor prognosis.
  3. Myosin Vb as a tumor suppressor gene in intestinal cancer.
    Title: Myosin Vb as a tumor suppressor gene in intestinal cancer.
  4. A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
    Title: A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
  5. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
    Title: MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
  6. Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.
    Title: Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.
  7. Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
    Title: Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
  8. MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
    Title: MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
  9. Mutations in Myosin 5B in Children With Early-onset Cholestasis.
    Title: Mutations in Myosin 5B in Children With Early-onset Cholestasis.
  10. A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
    Title: A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
Submit: New GeneRIF Correction See all GeneRIFs (48)

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
Cholestasis, progressive familial intrahepatic, 10
MedGen: C5676981 OMIM: 619868 GeneReviews: Not available
not available
Congenital microvillous atrophy
MedGen: C0341306 OMIM: 251850 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfilament motor activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase 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 endosomal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in renal water homeostasis TAS
Traceable Author Statement
more info
  
involved_in vesicle transport along actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical cortex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with recycling endosome IC
Inferred by Curator
more info
 PubMed 
is_active_in vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
unconventional myosin-Vb
Names
MYO5B variant protein
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.

Genomic

  1. NG_012925.2 RefSeqGene

    Range
    4935..377293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080467.3 → NP_001073936.1  unconventional myosin-Vb

    See identical proteins and their annotated locations for NP_001073936.1

    Status: REVIEWED

    Source sequence(s)
    AB290160, AC105224, AK025336, AY274809, BC032511, BX641287, DA350416, Z38208
    Consensus CDS
    CCDS42436.1
    UniProtKB/Swiss-Prot
    B0I1R3, Q0P656, Q9H6Y6, Q9ULV0
    UniProtKB/TrEMBL
    A0A8V8TM52
    Related
    ENSP00000285039.6, ENST00000285039.12
    Conserved Domains (6) summary
    smart00015
    Location:860 → 881
    IQ; Calmodulin-binding motif
    smart00242
    Location:64 → 760
    MYSc; Myosin. Large ATPases
    cd15477
    Location:1474 → 1845
    Myo5b_CBD; Cargo binding domain of myosin 5b
    cd01380
    Location:83 → 749
    MYSc_Myo5; class V myosin, motor domain
    pfam14915
    Location:895 → 1172
    CCDC144C; CCDC144C protein coiled-coil region
    cl23720
    Location:980 → 1080
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    49822789..50195147 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    50024565..50396878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULV0.3 GenPept UniProtKB/Swiss-Prot:Q9ULV0

Gene LinkOut

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