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MYO3B myosin IIIB [ Homo sapiens (human) ]

Gene ID: 140469, updated on 3-Apr-2024

Summary

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Official Symbol
MYO3Bprovided by HGNC
Official Full Name
myosin IIIBprovided by HGNC
Primary source
HGNC:HGNC:15576
See related
Ensembl:ENSG00000071909 MIM:610040; AllianceGenome:HGNC:15576
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
This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Biased expression in kidney (RPKM 2.4), urinary bladder (RPKM 2.3) and 4 other tissues See more
Orthologs
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Genomic context

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See MYO3B in Genome Data Viewer
Location:
2q31.1
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170178147..170655167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170655335..171132291)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171034657..171511677)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3 component n-recognin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170934286-170935065 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170947905-170948472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962392-170962892 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962893-170963393 Neighboring gene RNA, U6 small nuclear 1006, pseudogene Neighboring gene NSA2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16743 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:171070623-171071314 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:171071315-171072006 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:171077503-171078702 Neighboring gene Sharpr-MPRA regulatory region 12880 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:171181146-171181685 Neighboring gene uncharacterized LOC124906090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:171196797-171197361 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:171210599-171211452 Neighboring gene Sharpr-MPRA regulatory region 12446 Neighboring gene MYO3B antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:171292127-171292772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:171292773-171293418 Neighboring gene uncharacterized LOC100130256 Neighboring gene NANOG hESC enhancer GRCh37_chr2:171508220-171508765 Neighboring gene high mobility group box 1 pseudogene 4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:171536815-171537364 Neighboring gene MPRA-validated peak3923 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171538465-171539014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12090 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171571431-171572220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171572221-171573008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171573009-171573798 Neighboring gene ERICH2 divergent transcript Neighboring gene long intergenic non-protein coding RNA 1124 Neighboring gene Sp5 transcription factor

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. A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome. Dosé AC, et al. Genomics, 2002 May. PMID 11991710
  2. Impact of the Motor and Tail Domains of Class III Myosins on Regulating the Formation and Elongation of Actin Protrusions. Raval MH, et al. J Biol Chem, 2016 Oct 21. PMID 27582493, Free PMC Article
  3. Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin. Liu H, et al. Elife, 2016 Jan 19. PMID 26785147, Free PMC Article
  4. Myo3A, one of two class III myosin genes expressed in vertebrate retina, is localized to the calycal processes of rod and cone photoreceptors and is expressed in the sacculus. Dosé AC, et al. Mol Biol Cell, 2003 Mar. PMID 12631723, Free PMC Article
  5. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. Ichikawa S, et al. J Bone Miner Res, 2010 Aug. PMID 20200978, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MYO3A is more efficient than MYO3B at increasing formation and elongation of stable microvilli on the surface of cultured epithelial cells.
    Title: Impact of the Motor and Tail Domains of Class III Myosins on Regulating the Formation and Elongation of Actin Protrusions.
  2. The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism.
    Title: Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of actin filament length IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in filopodium tip IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  
is_active_in photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in stereocilium tip IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stereocilium tip ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
myosin-IIIb
NP_001077084.2
NP_620482.3
XP_006712362.1
XP_011508956.1
XP_011508957.1
XP_011508958.1
XP_011508959.1
XP_024308481.1
XP_054196603.1
XP_054196604.1
XP_054196605.1
XP_054196606.1
XP_054196607.1
XP_054196608.1
XP_054196609.1

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_034020.1 RefSeqGene

    Range
    5003..482023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083615.4 → NP_001077084.2  myosin-IIIb isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the coding region, compared to variant 2. This results in a shorter protein (isoform 1), compared to isoform 2.
    Source sequence(s)
    AC007277, AC012594, AF391555, AF391556, BC136620, BX647895
    Consensus CDS
    CCDS46446.1
    UniProtKB/TrEMBL
    B7ZM71
    Related
    ENSP00000386497.3, ENST00000409044.7
    Conserved Domains (4) summary
    smart00220
    Location:27 → 293
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:346 → 1053
    MYSc; Myosin. Large ATPases
    cd06639
    Location:4 → 294
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:357 → 1046
    MYSc_Myo3; class III myosin, motor domain

  2. NM_138995.5 → NP_620482.3  myosin-IIIb isoform 2

    See identical proteins and their annotated locations for NP_620482.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longer isoform (2).
    Source sequence(s)
    AC007277, AC012594, AF391555, BC136620, BX647895
    Consensus CDS
    CCDS42773.1
    UniProtKB/Swiss-Prot
    B8ZZR2, Q53QE1, Q53T08, Q8IX64, Q8IX65, Q8IX66, Q8IX67, Q8IX68, Q8WXR4, Q96N94
    UniProtKB/TrEMBL
    B7ZM71
    Related
    ENSP00000386213.4, ENST00000408978.9
    Conserved Domains (4) summary
    smart00220
    Location:27 → 293
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:346 → 1053
    MYSc; Myosin. Large ATPases
    cd06639
    Location:4 → 294
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:357 → 1046
    MYSc_Myo3; class III myosin, motor domain

RNA

  1. NR_045682.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007277, AC012594, AF391556, AF391557, BC136620, BX647895

  2. NR_045683.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007277, AC012594, AF369908, AF391557, BC136620, BX647895

  3. NR_045684.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon and contains an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007277, AC012594, AF391554, AF391557, BC136620, BX647895
    Related
    ENST00000317935.10

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    170178147..170655167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510654.4 → XP_011508956.1  myosin-IIIb isoform X1

    UniProtKB/TrEMBL
    B7ZM71
    Conserved Domains (4) summary
    smart00220
    Location:36 → 302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:355 → 1062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13 → 303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:366 → 1055
    MYSc_Myo3; class III myosin, motor domain

  2. XM_006712299.5 → XP_006712362.1  myosin-IIIb isoform X2

    UniProtKB/TrEMBL
    B7ZM71
    Conserved Domains (4) summary
    smart00220
    Location:36 → 302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:355 → 1062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13 → 303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:366 → 1055
    MYSc_Myo3; class III myosin, motor domain

  3. XM_011510655.4 → XP_011508957.1  myosin-IIIb isoform X3

    UniProtKB/TrEMBL
    B7ZM71
    Related
    ENSP00000446237.1, ENST00000484338.6
    Conserved Domains (4) summary
    smart00220
    Location:36 → 302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:355 → 1062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13 → 303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:366 → 1055
    MYSc_Myo3; class III myosin, motor domain

  4. XM_011510657.4 → XP_011508959.1  myosin-IIIb isoform X5

    See identical proteins and their annotated locations for XP_011508959.1

    Conserved Domains (2) summary
    smart00015
    Location:759 → 781
    IQ; Calmodulin-binding motif
    cd01379
    Location:30 → 719
    MYSc_Myo3; class III myosin, motor domain

  5. XM_011510656.4 → XP_011508958.1  myosin-IIIb isoform X4

    Conserved Domains (4) summary
    smart00015
    Location:864 → 886
    IQ; Calmodulin-binding motif
    smart00242
    Location:124 → 831
    MYSc; Myosin. Large ATPases
    cd01379
    Location:135 → 824
    MYSc_Myo3; class III myosin, motor domain
    cl21453
    Location:2 → 24
    PKc_like; Protein Kinases, catalytic domain

  6. XM_024452713.2 → XP_024308481.1  myosin-IIIb isoform X5

    Conserved Domains (2) summary
    smart00015
    Location:759 → 781
    IQ; Calmodulin-binding motif
    cd01379
    Location:30 → 719
    MYSc_Myo3; class III myosin, motor domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    170655335..171132291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340628.1 → XP_054196603.1  myosin-IIIb isoform X1

  2. XM_054340629.1 → XP_054196604.1  myosin-IIIb isoform X2

  3. XM_054340630.1 → XP_054196605.1  myosin-IIIb isoform X3

  4. XM_054340632.1 → XP_054196607.1  myosin-IIIb isoform X5

  5. XM_054340631.1 → XP_054196606.1  myosin-IIIb isoform X6

  6. XM_054340633.1 → XP_054196608.1  myosin-IIIb isoform X5

  7. XM_054340634.1 → XP_054196609.1  myosin-IIIb isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001171642.1: Suppressed sequence

    Description
    NM_001171642.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WXR4.4 GenPept UniProtKB/Swiss-Prot:Q8WXR4

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