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    MYO9B myosin IXB [ Homo sapiens (human) ]

    Gene ID: 4650, updated on 3-Jul-2022

    Summary

    Official Symbol
    MYO9Bprovided by HGNC
    Official Full Name
    myosin IXBprovided by HGNC
    Primary source
    HGNC:HGNC:7609
    See related
    Ensembl:ENSG00000099331 MIM:602129; AllianceGenome:HGNC:7609
    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
    Also known as
    MYR5; CELIAC4
    Summary
    This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in spleen (RPKM 30.6), bone marrow (RPKM 21.4) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYO9B in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17075777..17215255)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17210700..17348159)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17186587..17324095)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene C3 and PZP like alpha-2-macroglobulin domain containing 8 Neighboring gene RNA, 7SL, cytoplasmic 823, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9643 Neighboring gene HAUS augmin like complex subunit 8 Neighboring gene small nucleolar RNA, H/ACA box 118 Neighboring gene Sharpr-MPRA regulatory region 10590 Neighboring gene unconventional SNARE in the ER 1 Neighboring gene occludin/ELL domain containing 1

    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
    Celiac disease, susceptibility to, 4
    MedGen: C1857847 OMIM: 609753 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables Roundabout binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane HDA PubMed 
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ruffle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    unconventional myosin-IXb
    Names
    myosin-IXb
    unconventional myosin-9b

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013068.1 RefSeqGene

      Range
      4997..142505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130065.2NP_001123537.1  unconventional myosin-IXb isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region due to the use of an alternate splice site in the penultimate exon. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB209997, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
      Consensus CDS
      CCDS46010.1
      UniProtKB/TrEMBL
      Q4LE74, Q8WVD2
      Related
      ENSP00000471457.1, ENST00000595618.5
      Conserved Domains (6) summary
      cd01779
      Location:7112
      Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA
      smart00015
      Location:10001022
      IQ; Calmodulin-binding motif
      smart00242
      Location:141950
      MYSc; Myosin. Large ATPases
      cd00029
      Location:16331681
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd04407
      Location:16981883
      RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...
      cd01385
      Location:160941
      MYSc_Myo9; class IX myosin, motor domain
    2. NM_004145.4NP_004136.2  unconventional myosin-IXb isoform 1

      See identical proteins and their annotated locations for NP_004136.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB290184, AC020908, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
      UniProtKB/Swiss-Prot
      Q13459
      UniProtKB/TrEMBL
      B0I1T6, Q8WVD2
      Related
      ENSP00000507803.1, ENST00000682292.1
      Conserved Domains (6) summary
      cd01779
      Location:7112
      Myosin_IXb_RA; ubitquitin-like domain of Myosin_IXb_RA
      smart00015
      Location:10001022
      IQ; Calmodulin-binding motif
      smart00242
      Location:141950
      MYSc; Myosin. Large ATPases
      cd00029
      Location:16331681
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd04407
      Location:16981883
      RhoGAP_myosin_IXB; RhoGAP_myosin_IXB: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in myosins IXB. Class IX myosins contain a characteristic head domain, a neck domain and a tail domain which contains a C6H2-zinc binding motif and a ...
      cd01385
      Location:160941
      MYSc_Myo9; class IX myosin, motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17075777..17215255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438853.1XP_047294809.1  unconventional myosin-IXb isoform X1

    2. XM_047438854.1XP_047294810.1  unconventional myosin-IXb isoform X1

    3. XM_047438858.1XP_047294814.1  unconventional myosin-IXb isoform X5

    4. XM_047438859.1XP_047294815.1  unconventional myosin-IXb isoform X6

      Related
      ENSP00000472915.1, ENST00000595641.5
    5. XM_047438855.1XP_047294811.1  unconventional myosin-IXb isoform X2

    6. XM_047438856.1XP_047294812.1  unconventional myosin-IXb isoform X3

    7. XM_047438857.1XP_047294813.1  unconventional myosin-IXb isoform X4

    RNA

    1. XR_007066842.1 RNA Sequence

    2. XR_007066844.1 RNA Sequence

    3. XR_007066845.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17210700..17348159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)