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    MYO5B myosin VB [ Homo sapiens (human) ]

    Gene ID: 4645, updated on 15-Jun-2019

    Summary

    Official Symbol
    MYO5Bprovided by HGNC
    Official Full Name
    myosin VBprovided by HGNC
    Primary source
    HGNC:HGNC:7603
    See related
    Ensembl:ENSG00000167306 MIM:606540
    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
    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

    Genomic context

    See MYO5B in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (49822786..50195081, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (47349156..47721542, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene acetyl-CoA acyltransferase 2 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene RNA, 5S ribosomal pseudogene 457 Neighboring gene adenosine deaminase domain containing 1 pseudogene 2 Neighboring gene microRNA 4320 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rab GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin filament binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microfilament motor activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    apical cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    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)

    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
      5001..377296
      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
      Q9ULV0
      UniProtKB/TrEMBL
      Q7Z7A5
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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