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MYO5B myosin VB [ Homo sapiens (human) ]

Gene ID: 4645, updated on 10-Dec-2024

Summary

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

See MYO5B in Genome Data Viewer
Location:
18q21.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49822789..50195147, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50024565..50396878, complement)
RS_2024_09 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

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 endocytosis 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-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 

General protein information

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_001080467.3NP_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:860881
    IQ; Calmodulin-binding motif
    smart00242
    Location:64760
    MYSc; Myosin. Large ATPases
    cd15477
    Location:14741845
    Myo5b_CBD; Cargo binding domain of myosin 5b
    cd01380
    Location:83749
    MYSc_Myo5; class V myosin, motor domain
    pfam14915
    Location:8951172
    CCDC144C; CCDC144C protein coiled-coil region
    cl23720
    Location:9801080
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)