MYO18A myosin XVIIIA [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85120 (e-PCR)
- UniSTS:103491

RH68312 (e-PCR)
- UniSTS:87897

SHGC-83656 (e-PCR)
- UniSTS:100977

G60338 (e-PCR)
- UniSTS:137594

D17S1502E (e-PCR)
- UniSTS:151707

MARC_23519-23520:1046465531:1 (e-PCR)
- UniSTS:268718

RH39291 (e-PCR)
- UniSTS:86988

RH67783 (e-PCR)
- UniSTS:92386

SHGC-13103 (e-PCR)
- UniSTS:183026

SHGC-147104 (e-PCR)
- UniSTS:175613

RH98718 (e-PCR)
- UniSTS:91135

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 more info	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 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 more info	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

NG_051989.2 RefSeqGene

Range

37329..146605

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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; ...
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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

29071122..29180398 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

30013842..30123093 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.