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    MYO9B myosin IXB [ Homo sapiens (human) ]

    Gene ID: 4650, updated on 22-Sep-2016
    Official Symbol
    MYO9Bprovided by HGNC
    Official Full Name
    myosin IXBprovided by HGNC
    Primary source
    HGNC:HGNC:7609
    See related
    Ensembl:ENSG00000099331 HPRD:03677; MIM:602129; Vega:OTTHUMG00000182707
    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]
    Orthologs
    Location:
    19p13.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (17075781..17213295)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17186591..17324104)

    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 HAUS augmin like complex subunit 8 Neighboring gene unconventional SNARE in the ER 1 Neighboring gene occludin/ELL domain containing 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Celiac disease 4
    MedGen: C1857847 OMIM: 609753 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    NHGRI GWA Catalog
    • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
      Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
      Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    Rho GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Roundabout binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    unconventional myosin-IXb
    Names
    myosin-IXb
    unconventional myosin-9b

    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
      5001..142514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130065.1NP_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, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
      Consensus CDS
      CCDS46010.1
      UniProtKB/TrEMBL
      Q4LE74, Q8WVD2
      Related
      ENSP00000471457, OTTHUMP00000269943, ENST00000595618, OTTHUMT00000463235
      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_004145.3NP_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, BC018108, BF905466, BI001923, BI827217, CN284963, DR006748
      UniProtKB/Swiss-Prot
      Q13459
      UniProtKB/TrEMBL
      B0I1T6, Q8WVD2
      Related
      ENSP00000471367, OTTHUMP00000269944, ENST00000594824, OTTHUMT00000463236
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      17075781..17213295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      17186170..17323621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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