RBM8A RNA binding motif protein 8A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM8Aprovided by HGNC
Official Full Name: RNA binding motif protein 8Aprovided by HGNC
Primary source: HGNC:HGNC:9905
See related: Ensembl:ENSG00000265241 MIM:605313; AllianceGenome:HGNC:9905
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: TAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1
Summary: This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in brain (RPKM 21.6), esophagus (RPKM 19.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (145921556..145927484, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (145038375..145044303, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (145507609..145513536)

Chromosome 1 - NC_000001.11 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?

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.
Title: Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.
RBM8A Depletion Decreases the Cisplatin Resistance and Represses the Proliferation and Metastasis of Breast Cancer Cells via AKT/mTOR Pathway.
Title: RBM8A Depletion Decreases the Cisplatin Resistance and Represses the Proliferation and Metastasis of Breast Cancer Cells via AKT/mTOR Pathway.
Double-Stranded RNA Structural Elements Holding the Key to Translational Regulation in Cancer: The Case of Editing in RNA-Binding Motif Protein 8A.
Title: Double-Stranded RNA Structural Elements Holding the Key to Translational Regulation in Cancer: The Case of Editing in RNA-Binding Motif Protein 8A.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Title: TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Identification of molecular correlations of RBM8A with autophagy in Alzheimer's disease.
Title: Identification of molecular correlations of RBM8A with autophagy in Alzheimer's disease.
These results demonstrate that data mining efficiently reveals information about RBM8A expression and potential regulatory networks in HCC, laying a foundation for further study of the role of RBM8A in carcinogenesis.
Title: Expression and gene regulation network of RBM8A in hepatocellular carcinoma based on data mining.
These results reveal that the stability of Magoh and Y14 is not only dependent on the heterodimer structure, but also dependent on nuclear localization.
Title: The stability of Magoh and Y14 depends on their heterodimer formation and nuclear localization.
Findings demonstrate that Y14 nucleoplasmic localization is regulated not only by the previously reported N-terminal localization signal but also by the C-terminal serine/arginine repeat-containing region through phosphorylation and MAGOH binding to Y14.
Title: C-terminal short arginine/serine repeat sequence-dependent regulation of Y14 (RBM8A) localization.
A direct link between Y14 and p53 expression and suggests a function for Y14 in DNA damage signaling.
Title: Y14 governs p53 expression and modulates DNA damage sensitivity.
Results demonstrated that RBM8A is highly expressed in hepatocellular carcinoma (HCC), and patients with lower RBM8A expression level had longer overall survival and progression free survival. Also, results indicate that RBM8A promotes invasion and metastasis via epithelial-mesenchymal transition signaling pathway.
Title: High expression of RBM8A predicts poor patient prognosis and promotes tumor progression in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description	Tests
Radial aplasia-thrombocytopenia syndrome MedGen: C0175703 OMIM: 274000 GeneReviews: Thrombocytopenia Absent Radius Syndrome	Compare labs

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
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human RNA binding motif protein 8A (RBM8A) at amino acid residues 56-57 by the HIV-1 protease	PubMed

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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

WI-22172 (e-PCR)
- UniSTS:75014

WI-19788 (e-PCR)
- UniSTS:1303

Bdaa5e06 (e-PCR)
- UniSTS:87832

D8S2279 (e-PCR)
- UniSTS:473907

A008J33 (e-PCR)
- UniSTS:52542

RH12855 (e-PCR)
- UniSTS:835

G19805 (e-PCR)
- UniSTS:41287

RH10610 (e-PCR)
- UniSTS:88185

SHGC-75413 (e-PCR)
- UniSTS:75665

RH80039 (e-PCR)
- UniSTS:85401

MARC_7387-7388:996687855:1 (e-PCR)
- UniSTS:269781

MARC_13480-13481:1003840387:1 (e-PCR)
- UniSTS:267504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	NAS Non-traceable Author Statement more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	NAS Non-traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U2-type catalytic step 1 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
part_of exon-exon junction complex	IBA Inferred from Biological aspect of Ancestor more info
part_of exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
part_of exon-exon junction complex	IPI Inferred from Physical Interaction more info	PubMed
part_of exon-exon junction complex	ISS Inferred from Sequence or Structural Similarity more info
part_of exon-exon junction subcomplex mago-y14	IPI Inferred from Physical Interaction more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: RNA-binding protein 8A

Names: BOV-1; RNA binding motif protein 8B; RNA-binding protein Y14; binder of OVCA1; binder of OVCA1-1; exon junction complex core component Y14; ribonucleoprotein RBM8; ribonucleoprotein RBM8A

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.