RBM8
entrez
9939
canonical
uniprot
Q9Y5S9
canonical
ensembl
ENSG00000265241
resolver
ensp
ENSP00000463058
resolver
genesymbol
RBM8
resolver
genesymbol
RBM8A
resolver
genesymbol_syn
RBM8
resolver
genesymbol_syn
Y14
resolver
hgnc
HGNC:9905
resolver
uniprot
A0A023T787
resolver
uniprot
B3KQI9
resolver
uniprot
Q6FHD1
resolver
uniprot
Q6IQ40
resolver
uniprot
Q9GZX8
resolver
uniprot
Q9NZI4
resolver
uniprot_entry
A0A023T787_HUMAN
resolver
uniprot_entry
RBM8A_HUMAN
resolver
uniprot_sec
B3KQI9
resolver
uniprot_sec
Q6FHD1
resolver
uniprot_sec
Q6IQ40
resolver
uniprot_sec
Q9GZX8
resolver
uniprot_sec
Q9NZI4
resolver
amino_acid_sequence
MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSVEGWILFVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLMGQPISVDWCFVRGPPKGKRRGGRRRSRSPDRRRR
uniprot
proteins
disease_involvement
DISEASE: Thrombocytopenia-absent radius syndrome (TAR) [MIM:274000]: An autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee. {ECO:0000269|PubMed:22366785}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. {ECO:0000269|PubMed:12121612, ECO:0000269|PubMed:12718880, ECO:0000269|PubMed:12730685, ECO:0000269|PubMed:16209946, ECO:0000269|PubMed:19409878, ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961}.
uniprot
proteins
mass_dalton
19889
uniprot
proteins
mutagenesis
MUTAGEN 82..83; /note="EE->RR: Impaired nonsense-mediated decay activity."; /evidence="ECO:0000269|PubMed:16209946"; MUTAGEN 106..108; /note="LDR->RDE: Complete loss of nonsense-mediated decay activity."; /evidence="ECO:0000269|PubMed:16209946"; MUTAGEN 118; /note="L->R: Complete loss of nonsense-mediated decay activity."; /evidence="ECO:0000269|PubMed:16209946"; MUTAGEN 149..150; /note="CF->KA: Complete loss of nonsense-mediated decay activity."; /evidence="ECO:0000269|PubMed:16209946
uniprot
proteins
protein_family
RBM8A family
uniprot
proteins
pubmed
10662555
uniprot
proteins
pubmed
11004516
uniprot
proteins
pubmed
11013075
uniprot
proteins
pubmed
11030346
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11118221
uniprot
proteins
pubmed
11447110
uniprot
proteins
pubmed
11546873
uniprot
proteins
pubmed
11546874
uniprot
proteins
pubmed
11707068
uniprot
proteins
pubmed
11707413
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12121612
uniprot
proteins
pubmed
12718880
uniprot
proteins
pubmed
12730685
uniprot
proteins
pubmed
12781131
uniprot
proteins
pubmed
12944400
uniprot
proteins
pubmed
14625303
uniprot
proteins
pubmed
14968132
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16170325
uniprot
proteins
pubmed
16209946
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16314458
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16923391
uniprot
proteins
pubmed
16931718
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18026120
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19033377
uniprot
proteins
pubmed
19324961
uniprot
proteins
pubmed
19409878
uniprot
proteins
pubmed
19410547
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20479275
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22203037
uniprot
proteins
pubmed
22366785
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23917022
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
29301961
uniprot
proteins
pubmed
37020021
uniprot
proteins
sequence_length
174
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11030346, ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961}. Nucleus speckle {ECO:0000269|PubMed:11030346, ECO:0000269|PubMed:19324961}. Cytoplasm {ECO:0000269|PubMed:11030346, ECO:0000269|PubMed:19324961}. Note=Nucleocytoplasmic shuttling protein (PubMed:11030346). Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles (PubMed:19324961). {ECO:0000269|PubMed:11030346, ECO:0000269|PubMed:19324961}.
uniprot
proteins