Rbm8a RNA binding motif protein 8a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rbm8aprovided by MGI
Official Full Name: RNA binding motif protein 8aprovided by MGI
Primary source: MGI:MGI:1913129
See related: Ensembl:ENSMUSG00000038374 AllianceGenome:MGI:1913129
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rbm8; 2310057C03Rik
Summary: Enables mRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome and regulation of gene expression. Located in nucleus. Is expressed in several structures, including central nervous system; future brain; and sensory organ. Human ortholog(s) of this gene implicated in thrombocytopenia-absent radius syndrome. Orthologous to human RBM8A (RNA binding motif protein 8A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 30.4), CNS E14 (RPKM 14.6) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 41.93 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96537244..96541107)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (96629928..96633791)

Chromosome 3 - NC_000069.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion Behaviors.
Title: The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion Behaviors.
Transcriptomic Analyses of Brains of RBM8A Conditional Knockout Mice at Different Developmental Stages Reveal Conserved Signaling Pathways Contributing to Neurodevelopmental Diseases.
Title: Transcriptomic Analyses of Brains of RBM8A Conditional Knockout Mice at Different Developmental Stages Reveal Conserved Signaling Pathways Contributing to Neurodevelopmental Diseases.
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.
Full function of exon junction complex factor, Rbm8a, is critical for interneuron development.
Title: Full function of exon junction complex factor, Rbm8a, is critical for interneuron development.
our data demonstrate that miR-29a regulates the proliferation and differentiation of RPCs by directly targeting Rbm8a, providing us with a better understanding of the molecular mechanisms that govern RPC proliferation and differentiation.
Title: miR-29a regulates the proliferation and differentiation of retinal progenitors by targeting Rbm8a.
Data suggest that, in embryonic stem cells, Gsk3b/Gsk3a phosphorylate splicing factors (Rbm8a, Srsf9, and Psf) and nucleolar proteins (Npm1 and Phf6); Gsk3b/Gsk3a are key to alternative splicing of close to 190 genes. (Gsk3 = glycogen synthase kinase-3; Rbm8a = RNA binding motif protein 8a; Srsf9 = splicing factor, arginine-serine-rich 9; Psf = replication protein Psf; Npm1 = nucleophosmin 1; Phf6 = PHD finger protein 6)
Title: Phosphoproteomics reveals that glycogen synthase kinase-3 phosphorylates multiple splicing factors and is associated with alternative splicing.
we first show that Eif4a3 haploinsufficiency phenocopies aberrant neurogenesis and microcephaly of Magoh and Rbm8a mutant mice.we show that genetic ablation of one downstream pathway, p53, significantly rescues microcephaly of all 3 EJC mutant
Title: Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly.
this data suggests a novel role of RBM8a in the regulation of neurodevelopment.
Title: A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.
This is the first study that demonstrates the key role of RBM8a on the emotional behaviors in mice.
Title: An EJC factor RBM8a regulates anxiety behaviors.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rbm8a (e-PCR), detects polymorphism
- UniSTS:479236

AA673428 (e-PCR)
- UniSTS:178525

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
involved_in mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA Inferred from Electronic Annotation more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISO Inferred from Sequence Orthology more info
involved_in regulation of alternative mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of alternative mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mRNA processing	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
part_of U2-type catalytic step 1 spliceosome	ISS Inferred from Sequence or Structural Similarity more info
part_of catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
part_of exon-exon junction complex	IBA Inferred from Biological aspect of Ancestor more info
part_of exon-exon junction complex	ISO Inferred from Sequence Orthology more info
part_of exon-exon junction complex	ISS Inferred from Sequence or Structural Similarity more info
part_of exon-exon junction subcomplex mago-y14	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
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: RNA-binding motif protein 8A; 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.

mRNA and Protein(s)

NM_001102407.1 → NP_001095877.1 RNA-binding protein 8A isoform a

See identical proteins and their annotated locations for NP_001095877.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC122037, AI845155, AK082925, CJ072219

Consensus CDS

CCDS51005.1

UniProtKB/Swiss-Prot

A0A023T672, Q3UT38, Q6GTD4, Q9CWZ3, Q9D6U5

UniProtKB/TrEMBL

A0A0N4SUH6

Related

ENSMUSP00000143190.2, ENSMUST00000196456.5

Conserved Domains (1) summary

cd12324
Location:67 → 151

RRM_RBM8; RNA recognition motif (RRM) found in RNA-binding protein RBM8A, RBM8B nd similar proteins
NM_025875.2 → NP_080151.2 RNA-binding protein 8A isoform b

See identical proteins and their annotated locations for NP_080151.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC122037, AI845155, AK009953, CJ075560

Consensus CDS

CCDS79983.1

UniProtKB/TrEMBL

A0A0N4SUH6

Related

ENSMUSP00000044548.8, ENSMUST00000048915.11

Conserved Domains (1) summary

cd12324
Location:66 → 150

RRM_RBM8; RNA recognition motif (RRM) found in RNA-binding protein RBM8A, RBM8B nd similar proteins