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    MYO18B myosin XVIIIB [ Homo sapiens (human) ]

    Gene ID: 84700, updated on 21-May-2017
    Official Symbol
    MYO18Bprovided by HGNC
    Official Full Name
    myosin XVIIIBprovided by HGNC
    Primary source
    HGNC:HGNC:18150
    See related
    Ensembl:ENSG00000133454 MIM:607295; Vega:OTTHUMG00000151129
    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
    KFS4
    Summary
    The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    22q12.1
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (25742133..26063847)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26138117..26453345)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor kinase 3 Neighboring gene YES1 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 494 Neighboring gene uncharacterized LOC105372963 Neighboring gene RNA, 7SK small nuclear pseudogene 169 Neighboring gene uncharacterized LOC102724801 Neighboring gene uncharacterized LOC105372972 Neighboring gene uncharacterized LOC105372971

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
    MedGen: CN232561 OMIM: 616549 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A common variant in myosin-18B contributes to mathematical abilities in children with dyslexia and intraparietal sulcus variability in adults.
    NHGRI GWA Catalog
    Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ41942, DKFZp434C2422, DKFZp779C1668

    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
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    sarcomere IEA
    Inferred from Electronic Annotation
    more info
     
    unconventional myosin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    unconventional myosin-XVIIIb
    Names
    myosin 18B

    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_046772.1 RefSeqGene

      Range
      5001..293898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318245.1NP_001305174.1  unconventional myosin-XVIIIb isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB075376, AJ310931, AY077700
      Consensus CDS
      CCDS82703.1
      UniProtKB/Swiss-Prot
      Q8IUG5
      UniProtKB/TrEMBL
      F5GXR6
      Related
      ENSP00000386096.2, OTTHUMP00000239236, ENST00000407587.6, OTTHUMT00000400691
      Conserved Domains (7) summary
      smart00242
      Location:5661334
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14152091
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:5851322
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72500
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17471761
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:16811776
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:18811978
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. NM_032608.6NP_115997.5  unconventional myosin-XVIIIb isoform 2

      See identical proteins and their annotated locations for NP_115997.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB075376, AJ310931
      Consensus CDS
      CCDS54507.1
      UniProtKB/Swiss-Prot
      Q8IUG5
      UniProtKB/TrEMBL
      A0A075B6F5
      Related
      ENSP00000334563.7, OTTHUMP00000198632, ENST00000335473.11, OTTHUMT00000320371
      Conserved Domains (7) summary
      smart00242
      Location:5661333
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14142090
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:5851321
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:72500
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17461760
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:16801775
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:18801977
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      25742133..26063847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530466.2XP_011528768.1  unconventional myosin-XVIIIb isoform X7

      Conserved Domains (6) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14452083
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam08537
      Location:14521580
      NBP1; Fungal Nap binding protein NBP1
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_011530461.2XP_011528763.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528763.1

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    3. XM_017029012.1XP_016884501.1  unconventional myosin-XVIIIb isoform X1

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    4. XM_011530458.2XP_011528760.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528760.1

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    5. XM_017029014.1XP_016884503.1  unconventional myosin-XVIIIb isoform X4

    6. XM_011530464.2XP_011528766.1  unconventional myosin-XVIIIb isoform X3

      Conserved Domains (7) summary
      smart00242
      Location:6081375
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14562132
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271363
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17881802
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17221817
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19222019
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    7. XM_017029015.1XP_016884504.1  unconventional myosin-XVIIIb isoform X5

    8. XM_017029017.1XP_016884506.1  unconventional myosin-XVIIIb isoform X9

    9. XM_011530459.2XP_011528761.1  unconventional myosin-XVIIIb isoform X1

      See identical proteins and their annotated locations for XP_011528761.1

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    10. XM_017029013.1XP_016884502.1  unconventional myosin-XVIIIb isoform X1

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    11. XM_011530460.2XP_011528762.1  unconventional myosin-XVIIIb isoform X2

      Conserved Domains (7) summary
      smart00242
      Location:6081376
      MYSc; Myosin. Large ATPases
      COG1196
      Location:14572133
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:6271364
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam03157
      Location:114542
      Glutenin_hmw; High molecular weight glutenin subunit
      cd16269
      Location:17891803
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:17231818
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:19232020
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    12. XM_011530465.2XP_011528767.1  unconventional myosin-XVIIIb isoform X6

      Conserved Domains (6) summary
      smart00242
      Location:4471215
      MYSc; Myosin. Large ATPases
      COG1196
      Location:12961972
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01386
      Location:4661203
      MYSc_Myo18; class XVIII myosin, motor domain
      cd16269
      Location:16281642
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:15621657
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23720
      Location:17621859
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    13. XM_017029016.1XP_016884505.1  unconventional myosin-XVIIIb isoform X8

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      26097552..26386572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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