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    MYO18A myosin XVIIIA [ Homo sapiens (human) ]

    Gene ID: 399687, updated on 3-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. High expression of TIAF-1 in chronic kidney and liver allograft rejection and in activated T-helper cells. van der Leij J, et al. Transplantation, 2003 Jun 27. PMID 12829915
    2. The N-terminal domain of MYO18A has an ATP-insensitive actin-binding site. Isogawa Y, et al. Biochemistry, 2005 Apr 26. PMID 15835906
    3. Binding of the extreme carboxyl-terminus of PAK-interacting exchange factor β (βPIX) to myosin 18A (MYO18A) is required for epithelial cell migration. Hsu RM, et al. Biochim Biophys Acta, 2014 Nov. PMID 25014165
    4. MYO18A: An unusual myosin. Buschman MD, et al. Adv Biol Regul, 2018 Jan. PMID 28942352, Free PMC Article
    5. Proteomics analysis of the ezrin interactome in B cells reveals a novel association with Myo18aα. Matsui K, et al. J Proteome Res, 2011 Sep 2. PMID 21751808, Free PMC Article

    See all (122) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages.
      Title: SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages.
    2. Expression of TIAF-1 in the lymphocytes during chronic allograft rejection may be related to the predominance of a Th2 response in this condition and may protect these cells from apoptosis
      Title: High expression of TIAF-1 in chronic kidney and liver allograft rejection and in activated T-helper cells.
    3. TIAF1 and p53 functionally interact in regulating apoptosis, and TIAF1 is likely to participate in the nuclear translocation of activated p53.
      Title: TIAF1 and p53 functionally interact in mediating apoptosis and silencing of TIAF1 abolishes nuclear translocation of serine 15-phosphorylated p53.
    4. In vitro induction of TIAF1 self-association upregulated the expression of tumor suppressors Smad4 and WW domain-containing oxidoreductase (WOX1 or WWOX), and WOX1 in turn increased the TIAF1 expression.
      Title: TIAF1 self-aggregation in peritumor capsule formation, spontaneous activation of SMAD-responsive promoter in p53-deficient environment, and cell death.
    5. TIAF1 undergoes self-aggregation in response to TGF-Beta1.
      Title: TGF-β induces TIAF1 self-aggregation via type II receptor-independent signaling that leads to generation of amyloid β plaques in Alzheimer's disease.
    6. a high proportion of MYO18A is found in complex with GOLPH3 at the trans Golgi, where it functions to promote vesicle budding for Golgi-to-plasma membrane trafficking.
      Title: MYO18A: An unusual myosin.
    7. Studies indicate that MYO18A is overexpressed in metastatic prostate cancer (PC-3) cells.
      Title: How myosin organization of the actin cytoskeleton contributes to the cancer phenotype.
    8. Identification of the DNA-damage-induced Golgi response reveals an unexpected pathway through DNA-PK, GOLPH3, and MYO18A that regulates cell survival following DNA damage.
      Title: DNA damage triggers Golgi dispersal via DNA-PK and GOLPH3.
    9. PDZ module mediates direct binding of myosin-18A to GOLPH3, and this interaction in turn modulates the actin binding properties of the N-terminal extension. Thus, myosin-18A can act as an actin cross-linker with multiple regulatory modulators
      Title: Functional characterization of human myosin-18A and its interaction with F-actin and GOLPH3.
    10. GOLPH3L differs critically from GOLPH3 in that it is largely unable to bind to MYO18A; data demonstrate that despite their similarities, unexpectedly, GOLPH3L antagonizes GOLPH3/MYO18A at the Golgi
      Title: GOLPH3L antagonizes GOLPH3 to determine Golgi morphology.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    involved_in DNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Golgi ribbon formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Golgi vesicle budding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actomyosin structure organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in asymmetric Golgi ribbon formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		  
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of opsonization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of macrophage activation IMP
    Inferred from Mutant Phenotype
    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

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    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)

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    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_001346765.2 → NP_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_001346766.2 → NP_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:393 → 1917
      COG5022; Myosin heavy chain [General function prediction only]
      cd00992
      Location:218 → 308
      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:431 → 1185
      MYSc_Myo18; class XVIII myosin, motor domain

    3. NM_001346767.2 → NP_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_001346768.2 → NP_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_078471.4 → NP_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:400 → 1185
      MYSc; Myosin. Large ATPases
      cd00992
      Location:218 → 308
      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:419 → 1173
      MYSc_Myo18; class XVIII myosin, motor domain
      pfam00038
      Location:1258 → 1583
      Filament; Intermediate filament protein
      pfam09755
      Location:1558 → 1910
      DUF2046; Uncharacterized conserved protein H4 (DUF2046)
      pfam16043
      Location:1756 → 1898
      DUF4795; Domain of unknown function (DUF4795)
      cl02488
      Location:1389 → 1628
      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_203318.2 → NP_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:381 → 1905
      COG5022; Myosin heavy chain [General function prediction only]
      cd00992
      Location:218 → 308
      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:419 → 1173
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95411.2 GenPept UniProtKB/Swiss-Prot:O95411
    Q92614.3 GenPept UniProtKB/Swiss-Prot:Q92614

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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