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    MYO3B myosin IIIB [ Homo sapiens (human) ]

    Gene ID: 140469, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170178147..170655167)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170655335..171132291)
    RS_2024_09 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 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. 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
    4. 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
    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 histone H2AS1 kinase activity 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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of actin filament length IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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

    Gene LinkOut

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