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MYO3B myosin IIIB [ Homo sapiens (human) ]

Gene ID: 140469, updated on 22-Aug-2020

Summary

Official Symbol
MYO3Bprovided by HGNC
Official Full Name
myosin IIIBprovided by HGNC
Primary source
HGNC:HGNC:15576
See related
Ensembl:ENSG00000071909 MIM:610040
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

Genomic context

See MYO3B in Genome Data Viewer
Location:
2q31.1
Exon count:
43
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (170178147..170655167)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171034655..171511674)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3 component n-recognin 3 Neighboring gene RNA, U6 small nuclear 1006, pseudogene Neighboring gene NSA2 pseudogene 5 Neighboring gene uncharacterized LOC105373735 Neighboring gene Sharpr-MPRA regulatory region 12446 Neighboring gene MYO3B antisense RNA 1 Neighboring gene uncharacterized LOC100130256 Neighboring gene high mobility group box 1 pseudogene 4 Neighboring gene uncharacterized LOC101926913 Neighboring gene long intergenic non-protein coding RNA 1124 Neighboring gene Sp5 transcription factor

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
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
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
motor activity IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
stereocilium tip ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_011508960.1
XP_024308481.1

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_034020.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001083615.4NP_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/Swiss-Prot
    Q8WXR4
    UniProtKB/TrEMBL
    B7ZM71
    Related
    ENSP00000386497.3, ENST00000409044.7
    Conserved Domains (4) summary
    smart00220
    Location:27293
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:3461053
    MYSc; Myosin. Large ATPases
    cd06639
    Location:4294
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:3571046
    MYSc_Myo3; class III myosin, motor domain
  2. NM_138995.5NP_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
    Q8WXR4
    UniProtKB/TrEMBL
    B7ZM71
    Related
    ENSP00000386213.4, ENST00000408978.8
    Conserved Domains (4) summary
    smart00220
    Location:27293
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:3461053
    MYSc; Myosin. Large ATPases
    cd06639
    Location:4294
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:3571046
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011510654.3XP_011508956.1  myosin-IIIb isoform X1

    Conserved Domains (4) summary
    smart00220
    Location:36302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:3551062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:3661055
    MYSc_Myo3; class III myosin, motor domain
  2. XM_006712299.4XP_006712362.1  myosin-IIIb isoform X2

    UniProtKB/Swiss-Prot
    Q8WXR4
    Conserved Domains (4) summary
    smart00220
    Location:36302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:3551062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:3661055
    MYSc_Myo3; class III myosin, motor domain
  3. XM_011510655.3XP_011508957.1  myosin-IIIb isoform X3

    Related
    ENSP00000446237.1, ENST00000484338.6
    Conserved Domains (4) summary
    smart00220
    Location:36302
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00242
    Location:3551062
    MYSc; Myosin. Large ATPases
    cd06639
    Location:13303
    STKc_myosinIIIB_N; N-terminal Catalytic domain of the Serine/Threonine Kinase, Class IIIB myosin
    cd01379
    Location:3661055
    MYSc_Myo3; class III myosin, motor domain
  4. XM_011510657.3XP_011508959.1  myosin-IIIb isoform X5

    See identical proteins and their annotated locations for XP_011508959.1

    Conserved Domains (2) summary
    smart00015
    Location:759781
    IQ; Calmodulin-binding motif
    cd01379
    Location:30719
    MYSc_Myo3; class III myosin, motor domain
  5. XM_011510656.3XP_011508958.1  myosin-IIIb isoform X4

    Conserved Domains (4) summary
    smart00015
    Location:864886
    IQ; Calmodulin-binding motif
    smart00242
    Location:124831
    MYSc; Myosin. Large ATPases
    cd01379
    Location:135824
    MYSc_Myo3; class III myosin, motor domain
    cl21453
    Location:224
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011510658.3XP_011508960.1  myosin-IIIb isoform X5

    See identical proteins and their annotated locations for XP_011508960.1

    Conserved Domains (2) summary
    smart00015
    Location:759781
    IQ; Calmodulin-binding motif
    cd01379
    Location:30719
    MYSc_Myo3; class III myosin, motor domain
  7. XM_024452713.1XP_024308481.1  myosin-IIIb isoform X5

    Conserved Domains (2) summary
    smart00015
    Location:759781
    IQ; Calmodulin-binding motif
    cd01379
    Location:30719
    MYSc_Myo3; class III myosin, motor domain

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.
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