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MYO18A myosin XVIIIA [ Homo sapiens (human) ]

Gene ID: 399687, updated on 1-Jun-2020

Summary

Official Symbol
MYO18Aprovided by HGNC
Official Full Name
myosin XVIIIAprovided by HGNC
Primary source
HGNC:HGNC:31104
See related
Ensembl:ENSG00000196535 MIM:610067
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; 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]
Expression
Ubiquitous expression in skin (RPKM 21.0), bone marrow (RPKM 16.2) and 25 other tissues See more
Orthologs

Genomic context

See MYO18A in Genome Data Viewer
Location:
17q11.2
Exon count:
47
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (29071122..29180398, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27400528..27507432, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 Neighboring gene pipecolic acid and sarcosine oxidase Neighboring gene TGFB1-induced anti-apoptotic factor 1 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
  • 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

Homology

Clone Names

  • KIAA0216, DKFZp686L0243

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 
NOT ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA metabolic process IEA
Inferred from Electronic Annotation
more info
 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi vesicle budding IMP
Inferred from Mutant Phenotype
more info
PubMed 
actomyosin structure organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
asymmetric Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of opsonization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of macrophage activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
actomyosin IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
myosin complex IEA
Inferred from Electronic Annotation
more info
 
postsynaptic Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
unconventional myosin-XVIIIa
Names
SP-A receptor subunit SP-R210 alphaS
molecule associated with JAK3 N-terminus
myosin 18A
myosin containing PDZ domain
myosin containing a PDZ domain
surfactant protein receptor SP-R210

NCBI Reference Sequences (RefSeq)

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_051989.1 RefSeqGene

    Range
    5001..111880
    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
  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/Swiss-Prot
    Q92614
  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
    Q92614
    Related
    ENSP00000437073.1, ENST00000527372.6
    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
    UniProtKB/Swiss-Prot
    Q92614
    UniProtKB/TrEMBL
    A0A024QZ63, Q9NYE8
    Related
    ENSP00000434228.1, ENST00000531253.5
    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; ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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