Human Gene MYO18A (ENST00000527372.7_11) from GENCODE V47lift37
  Description: myosin XVIIIA, transcript variant 1 (from RefSeq NM_078471.4)
Gencode Transcript: ENST00000527372.7_11
Gencode Gene: ENSG00000196535.20_20
Transcript (Including UTRs)
   Position: hg19 chr17:27,398,140-27,507,416 Size: 109,277 Total Exon Count: 42 Strand: -
Coding Region
   Position: hg19 chr17:27,401,788-27,493,958 Size: 92,171 Coding Exon Count: 41 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:27,398,140-27,507,416)mRNA (may differ from genome)Protein (2054 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MY18A_HUMAN
DESCRIPTION: RecName: Full=Unconventional myosin-XVIIIa; AltName: Full=Molecule associated with JAK3 N-terminus; Short=MAJN; AltName: Full=Myosin containing a PDZ domain;
FUNCTION: May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). In concert with LURAP1 and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration.
SUBUNIT: Homodimer. Interacts with JAK3 and actin. Forms a tripartite complex with CDC42BPA/CDC42BPB and LURAP1 with the latter acting as an adapter connecting CDC42BPA/CDC42BPB and MYO18A.
INTERACTION: Q9H4A6:GOLPH3; NbExp=4; IntAct=EBI-949059, EBI-2465479;
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum-Golgi intermediate compartment (By similarity). Cytoplasm, cytoskeleton. Note=Colocalizes with actin.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Lacks the PDZ domain. Diffusely localized in the cytoplasm.
SIMILARITY: Contains 1 IQ domain.
SIMILARITY: Contains 1 myosin head-like domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
CAUTION: The TIAF1 protein is coded in the 3'-UTR region of MYO18A.
SEQUENCE CAUTION: Sequence=BAA13206.2; Type=Erroneous initiation; Sequence=BAD66838.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYO18A
Diseases sorted by gene-association score: 8p11 myeloproliferative syndrome (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.27 RPKM in Muscle - Skeletal
Total median expression: 546.83 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.80167-0.430 Picture PostScript Text
3' UTR -1316.703648-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR002928 - Myosin_tail
IPR001478 - PDZ
IPR020587 - RecA_monomer-monomer_interface

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00595 - PDZ domain
PF00612 - IQ calmodulin-binding motif
PF01576 - Myosin tail
PF17820 - PDZ domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q92614
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0043531 ADP binding
GO:0051015 actin filament binding
GO:0016887 ATPase activity

Biological Process:
GO:0006259 DNA metabolic process
GO:0007018 microtubule-based movement
GO:0007030 Golgi organization
GO:0016477 cell migration
GO:0031032 actomyosin structure organization
GO:0043030 regulation of macrophage activation
GO:0043066 negative regulation of apoptotic process
GO:0048194 Golgi vesicle budding
GO:0050714 positive regulation of protein secretion
GO:0090161 Golgi ribbon formation
GO:0090164 asymmetric Golgi ribbon formation
GO:1903028 positive regulation of opsonization

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005856 cytoskeleton
GO:0009986 cell surface
GO:0016020 membrane
GO:0016459 myosin complex
GO:0042641 actomyosin


-  Descriptions from all associated GenBank mRNAs
  AK122870 - Homo sapiens cDNA FLJ16503 fis, clone FEBRA2008681, highly similar to Myosin-18A.
AB177858 - Homo sapiens mRNA for KIAA0216 splice variant 1.
BC039612 - Homo sapiens myosin XVIIIA, mRNA (cDNA clone MGC:49015 IMAGE:6045482), complete cds.
CR933614 - Homo sapiens mRNA; cDNA DKFZp686L0243 (from clone DKFZp686L0243).
D86970 - Homo sapiens mRNA for KIAA0216 gene, complete cds.
AF105277 - Homo sapiens TIAF1 mRNA, complete cds.
BC058075 - Homo sapiens TGFB1-induced anti-apoptotic factor 1, mRNA (cDNA clone IMAGE:5535495), complete cds.
BC047669 - Homo sapiens TGFB1-induced anti-apoptotic factor 1, mRNA (cDNA clone MGC:51777 IMAGE:6056136), complete cds.
AK054958 - Homo sapiens cDNA FLJ30396 fis, clone BRACE2008399, highly similar to TGFB1-INDUCED ANTI-APOPTOTIC FACTOR 1.
AK126861 - Homo sapiens cDNA FLJ44913 fis, clone BRAMY3009556, highly similar to TGFB1-induced anti-apoptotic factor 1.
AF252258 - Homo sapiens Jak3 N-terminal-associated protein MAJN (MAJN) mRNA, partial cds.
AB177860 - Homo sapiens mRNA for KIAA0216 splice variant 2.
AY703984 - Homo sapiens SP-A receptor subunit SP-R210 alphaS (MYO18A) mRNA, complete cds, alternatively spliced.
JD278561 - Sequence 259585 from Patent EP1572962.
JD426023 - Sequence 407047 from Patent EP1572962.
JD215881 - Sequence 196905 from Patent EP1572962.
JD049278 - Sequence 30302 from Patent EP1572962.
AK303522 - Homo sapiens cDNA FLJ59649 complete cds, highly similar to Myosin-18A.
JD254854 - Sequence 235878 from Patent EP1572962.
BC131561 - Homo sapiens TGFB1-induced anti-apoptotic factor 1, mRNA (cDNA clone MGC:148141 IMAGE:40109188), complete cds.
JD301905 - Sequence 282929 from Patent EP1572962.
JD501242 - Sequence 482266 from Patent EP1572962.
JD489954 - Sequence 470978 from Patent EP1572962.
KJ892718 - Synthetic construct Homo sapiens clone ccsbBroadEn_02112 TIAF1 gene, encodes complete protein.
AB590936 - Synthetic construct DNA, clone: pFN21AE1610, Homo sapiens TIAF1 gene for TGFB1-induced anti-apoptotic factor 1, without stop codon, in Flexi system.
JD416633 - Sequence 397657 from Patent EP1572962.
JD361265 - Sequence 342289 from Patent EP1572962.
JD380655 - Sequence 361679 from Patent EP1572962.
JD251034 - Sequence 232058 from Patent EP1572962.
JD054225 - Sequence 35249 from Patent EP1572962.
JD124414 - Sequence 105438 from Patent EP1572962.
JD329709 - Sequence 310733 from Patent EP1572962.
JD153452 - Sequence 134476 from Patent EP1572962.
JD162875 - Sequence 143899 from Patent EP1572962.
JD137510 - Sequence 118534 from Patent EP1572962.
JD546815 - Sequence 527839 from Patent EP1572962.
JD486543 - Sequence 467567 from Patent EP1572962.
JD149806 - Sequence 130830 from Patent EP1572962.
JD504098 - Sequence 485122 from Patent EP1572962.
JD285139 - Sequence 266163 from Patent EP1572962.
JD273210 - Sequence 254234 from Patent EP1572962.
JD471304 - Sequence 452328 from Patent EP1572962.
JD485360 - Sequence 466384 from Patent EP1572962.
JD111944 - Sequence 92968 from Patent EP1572962.
AK302725 - Homo sapiens cDNA FLJ60377 complete cds, highly similar to Myosin-18A.
AK302505 - Homo sapiens cDNA FLJ60372 complete cds, highly similar to Myosin-18A.
AK294180 - Homo sapiens cDNA FLJ59676 complete cds, highly similar to Myosin-18A.
JD144238 - Sequence 125262 from Patent EP1572962.
JD556678 - Sequence 537702 from Patent EP1572962.
JD322196 - Sequence 303220 from Patent EP1572962.
JD452050 - Sequence 433074 from Patent EP1572962.
JD543744 - Sequence 524768 from Patent EP1572962.
JD497950 - Sequence 478974 from Patent EP1572962.
JD365605 - Sequence 346629 from Patent EP1572962.
JD108728 - Sequence 89752 from Patent EP1572962.
JD474747 - Sequence 455771 from Patent EP1572962.
AB383805 - Synthetic construct DNA, clone: pF1KSDA0216, Homo sapiens MYO18A gene for myosin-XVIIIa, complete cds, without stop codon, in Flexi system.
JD054816 - Sequence 35840 from Patent EP1572962.
JD458728 - Sequence 439752 from Patent EP1572962.
JD385984 - Sequence 367008 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92614 (Reactome details) participates in the following event(s):

R-HSA-1839031 Dimerization of cytosolic FGFR1 fusion proteins
R-HSA-1839039 Tyrosine kinase inhibitors bind and inhibit cytosolic FGFR1 fusion dimer phosphorylation
R-HSA-1839065 Phosphorylation of cytosolic FGFR1 fusion dimers
R-HSA-1839080 Activated cytosolic FGFR1 fusions bind PIK3CA
R-HSA-1839094 Activated FGFR1 mutants and fusions bind PLCG1
R-HSA-1839100 p-4Y- PLCG1 dissociates from activated FGFR1 mutants and fusions
R-HSA-1839091 Cytosolic FGFR1 fusion protein-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-1839098 Activated FGFR1 mutants and fusions phosphorylate PLCG1
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants
R-HSA-1839124 FGFR1 mutant receptor activation
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: CD245 , ENST00000527372.1, ENST00000527372.2, ENST00000527372.3, ENST00000527372.4, ENST00000527372.5, ENST00000527372.6, KIAA0216, MY18A_HUMAN, MYO18A , MYSPDZ, NM_078471, Q5H9U3, Q5QD01, Q5W9F9, Q5W9G1, Q8IXP8, Q92614, TIAF1, uc324dfn.1, uc324dfn.2
UCSC ID: ENST00000527372.7_11
RefSeq Accession: NM_078471.4
Protein: Q92614 (aka MY18A_HUMAN or M18A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.