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    MYO18A myosin XVIIIA [ Homo sapiens (human) ]

    Gene ID: 399687, updated on 28-Oct-2024

    Summary

    Official Symbol
    MYO18Aprovided by HGNC
    Official Full Name
    myosin XVIIIAprovided by HGNC
    Primary source
    HGNC:HGNC:31104
    See related
    Ensembl:ENSG00000196535 MIM:609517; MIM:610067; AllianceGenome:HGNC:31104
    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
    MAJN; TIAF1; MYSPDZ; SPR210; SP-R210
    Summary
    The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]
    Annotation information
    Note: This gene is now merged into MYO18A (GeneID:399687) due to overlap of a significant portion of the transcript with 3' terminal exon of MYO18A. [10 Jan 2022]
    Expression
    Ubiquitous expression in skin (RPKM 21.0), bone marrow (RPKM 16.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MYO18A in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29071122..29180398, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30013842..30123093, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27398140..27507416, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27359363-27360197 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27369638-27370526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27381450-27382004 Neighboring gene pipecolic acid and sarcosine oxidase Neighboring gene Sharpr-MPRA regulatory region 1762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423404-27423904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423905-27424405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27429751-27430716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27435597-27436179 Neighboring gene Sharpr-MPRA regulatory region 1183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27454495-27455030 Neighboring gene Sharpr-MPRA regulatory region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27464737-27465720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27465721-27466704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8364 Neighboring gene uncharacterized LOC124903967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11967 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8367 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27507275-27507495 Neighboring gene gap junction protein alpha 4 pseudogene Neighboring gene twinfilin 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of myosin XVIIIA (MYO18A) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30396, FLJ44913, KIAA0216, DKFZp686L0243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent activity, acting on DNA IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    part_of myosin II complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in myosin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    unconventional myosin-XVIIIa
    Names
    12 kDa TGF-beta-1-induced antiapoptotic factor
    Putative TGFB1-induced anti-apoptotic factor 1
    SP-A receptor subunit SP-R210 alphaS
    TGF-beta-1-induced antiapoptotic factor 1
    TGFB1-induced anti-apoptotic factor 1
    molecule associated with JAK3 N-terminus
    molecule associated with Jak-3 N-terminal
    myosin 18A
    myosin containing PDZ domain
    myosin containing a PDZ domain
    surfactant protein receptor SP-R210

    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_051989.2 RefSeqGene

      Range
      37329..146605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346765.2NP_001333694.1  unconventional myosin-XVIIIa isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC005412, AC024619
    2. NM_001346766.2NP_001333695.1  unconventional myosin-XVIIIa isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC005412, AC024619
      Consensus CDS
      CCDS92285.1
      UniProtKB/TrEMBL
      A0A994J771
      Related
      ENSP00000515984.1, ENST00000704659.1
      Conserved Domains (3) summary
      COG5022
      Location:3931917
      COG5022; Myosin heavy chain [General function prediction only]
      cd00992
      Location:218308
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01386
      Location:4311185
      MYSc_Myo18; class XVIII myosin, motor domain
    3. NM_001346767.2NP_001333696.1  unconventional myosin-XVIIIa isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks three alternate in-frame exons compared to variant 3. The resulting isoform (e) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC005412, AC024619, BC039612
      Consensus CDS
      CCDS86587.1
      UniProtKB/Swiss-Prot
      Q92614
      Related
      ENSP00000435932.1, ENST00000533112.5
    4. NM_001346768.2NP_001333697.1  unconventional myosin-XVIIIa isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and represents use of an alternate promoter, therefore differing in the 5' UTR and 5' coding sequence, compared to variant 3. These differences cause translation initiation at a downstream start codon and result in an isoform (f) that lacks an alternate internal segment and has a shorter N-terminus, compared to isoform c.
      Source sequence(s)
      AC024619
      UniProtKB/TrEMBL
      B4DYM1
    5. NM_078471.4NP_510880.2  unconventional myosin-XVIIIa isoform a

      See identical proteins and their annotated locations for NP_510880.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate in-frame exon and lacks two alternate in-frame exons compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC005412, AC024619, BM544214, D86970
      Consensus CDS
      CCDS45642.1
      UniProtKB/Swiss-Prot
      Q5H9U3, Q5QD01, Q5W9F9, Q5W9G1, Q8IXP8, Q92614
      Related
      ENSP00000437073.1, ENST00000527372.7
      Conserved Domains (7) summary
      smart00242
      Location:4001185
      MYSc; Myosin. Large ATPases
      cd00992
      Location:218308
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01386
      Location:4191173
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam00038
      Location:12581583
      Filament; Intermediate filament protein
      pfam09755
      Location:15581910
      DUF2046; Uncharacterized conserved protein H4 (DUF2046)
      pfam16043
      Location:17561898
      DUF4795; Domain of unknown function (DUF4795)
      cl02488
      Location:13891628
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    6. NM_203318.2NP_976063.1  unconventional myosin-XVIIIa isoform b

      See identical proteins and their annotated locations for NP_976063.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC005412, AC024619, AF252258, BM544214, D86970
      Consensus CDS
      CCDS45641.1
      Related
      ENSP00000434228.1, ENST00000531253.5
      Conserved Domains (3) summary
      COG5022
      Location:3811905
      COG5022; Myosin heavy chain [General function prediction only]
      cd00992
      Location:218308
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01386
      Location:4191173
      MYSc_Myo18; class XVIII myosin, motor domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29071122..29180398 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30013842..30123093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004740.3: Suppressed sequence

      Description
      NM_004740.3: This RefSeq was removed because the gene is thought to be a part of the 3' end of another gene.