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MYO5B myosin VB [ Homo sapiens (human) ]

Gene ID: 4645, updated on 6-Jul-2014
Official Symbol
MYO5Bprovided by HGNC
Official Full Name
myosin VBprovided by HGNC
Primary source
HGNC:7603
See related
Ensembl:ENSG00000167306; MIM:606540; Vega:OTTHUMG00000179843
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]
See MYO5B in Epigenomics, MapViewer
Location:
18q21
Exon count :
40
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 RNA, 5S ribosomal pseudogene 457 Neighboring gene adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 Neighboring gene microRNA 4320 Neighboring gene coiled-coil domain containing 11 Neighboring gene methyl-CpG binding domain protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 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
metabolic process IEA
Inferred from Electronic Annotation
more info
 
metabolic process TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
unconventional myosin-Vb
Names
unconventional myosin-Vb
myosin-Vb
MYO5B variant protein

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_012925.1 

    Range
    5001..377296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080467.2NP_001073936.1  unconventional myosin-Vb

    See proteins identical to NP_001073936.1

    Status: REVIEWED

    Source sequence(s)
    AB290160, AK025336, AY274809, BC032511, BX641287, DA350416, Z38208
    Consensus CDS
    CCDS42436.1
    UniProtKB/TrEMBL
    Q7Z7A5
    UniProtKB/TrEMBL
    Q9H6Y6
    UniProtKB/Swiss-Prot
    Q9ULV0
    Related
    ENSP00000285039, OTTHUMP00000262724, ENST00000285039, OTTHUMT00000448515
    Conserved Domains (5) summary
    smart00015
    Location:860881
    Blast Score: 91
    IQ; Calmodulin-binding motif
    cd01380
    Location:70760
    Blast Score: 3419
    MYSc_type_V; Myosin motor domain, type V myosins. Myosins V transport a variety of intracellular cargo processively along actin filaments, such as membraneous organelles and mRNA. This catalytic (head) domain has ATPase activity and belongs to the larger group of ...
    pfam01843
    Location:16801785
    Blast Score: 398
    DIL; DIL domain
    pfam09744
    Location:9651074
    Blast Score: 102
    Jnk-SapK_ap_N; JNK_SAPK-associated protein-1
    pfam15619
    Location:8951073
    Blast Score: 97
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    49822786..50195081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    44203440..44575850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

    Range
    47344771..47717073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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