RBMX
entrez
27316
canonical
uniprot
P38159
canonical
ensembl
ENSG00000147274
resolver
ensp
ENSP00000359645
resolver
ensp
ENSP00000411989
resolver
genesymbol
RBMX
resolver
genesymbol_syn
HNRPG
resolver
genesymbol_syn
RBMXP1
resolver
hgnc
HGNC:9910
resolver
uniprot
B4E3U4
resolver
uniprot
D3DWH0
resolver
uniprot
E9PG86
resolver
uniprot
Q5JQ67
resolver
uniprot
Q8N8Y7
resolver
uniprot
Q969R3
resolver
uniprot_entry
RBMX_HUMAN
resolver
uniprot_sec
B4E3U4
resolver
uniprot_sec
D3DWH0
resolver
uniprot_sec
E9PG86
resolver
uniprot_sec
Q5JQ67
resolver
uniprot_sec
Q8N8Y7
resolver
uniprot_sec
Q969R3
resolver
amino_acid_sequence
MVEADRPGKLFIGGLNTETNEKALEAVFGKYGRIVEVLLMKDRETNKSRGFAFVTFESPADAKDAARDMNGKSLDGKAIKVEQATKPSFESGRRGPPPPPRSRGPPRGLRGGRGGSGGTRGPPSRGGHMDDGGYSMNFNMSSSRGPLPVKRGPPPRSGGPPPKRSAPSGPVRSSSGMGGRAPVSRGRDSYGGPPRREPLPSRRDVYLSPRDDGYSTKDSYSSRDYPSSRDTRDYAPPPRDYTYRDYGHSSSRDDYPSRGYSDRDGYGRDRDYSDHPSGGSYRDSYESYGNSRSAPPTRGPPPSYGGSSRYDDYSSSRDGYGGSRDSYSSSRSDLYSSGRDRVGRQERGLPPSMERGYPPPRDSYSSSSRGAPRGGGRGGSRSDRGGGRSRY
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Shashi type (MRXSSH) [MIM:300238]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. {ECO:0000269|PubMed:25256757}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked, syndromic, Gustavson type (MRXSG) [MIM:309555]: An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood. {ECO:0000269|PubMed:37277488}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Also plays a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment. {ECO:0000269|PubMed:12165565, ECO:0000269|PubMed:12761049, ECO:0000269|PubMed:16707624, ECO:0000269|PubMed:18445477, ECO:0000269|PubMed:18541147, ECO:0000269|PubMed:19282290, ECO:0000269|PubMed:21327109}.
uniprot
proteins
mass_dalton
42332
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="K->A: Promotes cell proliferation. Inhibits transcriptional up-regulation of the TXNIP promoter."; /evidence="ECO:0000269|PubMed:16707624, ECO:0000269|PubMed:18541147
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000269|PubMed:7692398}.; PTM: Arg-185 is dimethylated, probably to asymmetric dimethylarginine.; PTM: Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated. {ECO:0000269|Ref.9}.
uniprot
proteins
pubmed
10332027
uniprot
proteins
pubmed
11420617
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12165565
uniprot
proteins
pubmed
12761049
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16707624
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17890166
uniprot
proteins
pubmed
18445477
uniprot
proteins
pubmed
18541147
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19282290
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21327109
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25256757
uniprot
proteins
pubmed
25678563
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
37277488
uniprot
proteins
pubmed
7692398
uniprot
proteins
sequence_length
391
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19282290, ECO:0000269|PubMed:21327109, ECO:0000269|PubMed:37277488}. Note=Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.
uniprot
proteins