RBM8A (RNA binding motif protein 8A)

2003-11-01  

Identity

HGNC
LOCATION
1q21.1
LOCUSID
ALIAS
BOV-1A,BOV-1B,BOV-1C,C1DELq21.1,DEL1q21.1,MDS014,RBM8,RBM8B,TAR,Y14,ZNRP,ZRNP1
FUSION GENES

Other Information

Locus ID:

NCBI: 9939
MIM: 605313
HGNC: 9905
Ensembl: ENSG00000265241

Variants:

dbSNP: 9939
ClinVar: 9939
TCGA: ENSG00000265241
COSMIC: RBM8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000265241ENST00000369307Q9Y5S9
ENSG00000265241ENST00000583313Q9Y5S9
ENSG00000265241ENST00000583313A0A023T787
ENSG00000265241ENST00000632040A0A0J9YW13
ENSG00000265241ENST00000632555Q9Y5S9
ENSG00000265241ENST00000632555A0A023T787
ENSG00000265241ENST00000633781A0A0J9YW13

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
RNA transportKEGGko03013
RNA transportKEGGhsa03013
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Exon junction complex (EJC)KEGGhsa_M00430
Exon junction complex (EJC)KEGGM00430
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169317182006Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA.159
161703252005The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity.115
223667852012Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.115
127188802003Y14 and hUpf3b form an NMD-activating complex.113
182431192008Efficiency of the pioneer round of translation affects the cellular site of nonsense-mediated mRNA decay.33
259482532015Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.26
231153032013The RNA-binding protein Y14 inhibits mRNA decapping and modulates processing body formation.21
239704072013Depletion of RNA-binding protein RBM8A (Y14) causes cell cycle deficiency and apoptosis in human cells.20
161001092005Phosphorylation of Y14 modulates its interaction with proteins involved in mRNA metabolism and influences its methylation.19
212090852011The exon junction complex component Y14 modulates the activity of the methylosome in biogenesis of spliceosomal small nuclear ribonucleoproteins.17

Citation

Dessen P

RBM8A (RNA binding motif protein 8A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42071/rbm8a