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Protein

RNA-binding motif protein, X chromosome

Gene

RBMX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. Plays also 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.7 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Repressor, Ribonucleoprotein, RNA-binding
Biological processmRNA processing, mRNA splicing, Transcription

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding motif protein, X chromosome
Alternative name(s):
Glycoprotein p43
Heterogeneous nuclear ribonucleoprotein G
Short name:
hnRNP G
Cleaved into the following chain:
Gene namesi
Name:RBMX
Synonyms:HNRPG, RBMXP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000147274.14
HGNCiHGNC:9910 RBMX
MIMi300199 gene
neXtProtiNX_P38159

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, syndromic, 11 (MRXS11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300238

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi22K → A: Promotes cell proliferation. Inhibits transcriptional up-regulation of the TXNIP promoter. 2 Publications1

Keywords - Diseasei

Mental retardation, Tumor suppressor

Organism-specific databases

DisGeNETi27316
MalaCardsiRBMX
MIMi300238 phenotype
OpenTargetsiENSG00000147274
PharmGKBiPA34277

Polymorphism and mutation databases

BioMutaiRBMX
DMDMi23503093

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000818541 – 391RNA-binding motif protein, X chromosomeAdd BLAST391
Initiator methionineiRemoved; alternate1 Publication
ChainiPRO_00003045822 – 391RNA-binding motif protein, X chromosome, N-terminally processedAdd BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine; in Heterogeneous nuclear ribonucleoprotein G; alternate1 Publication1
Modified residuei2N-acetylvaline; in Heterogeneous nuclear ribonucleoprotein G, N-terminally processed1 Publication1
Cross-linki22Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei30N6-acetyllysineCombined sources1
Cross-linki80Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki86Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei88PhosphoserineCombined sources1
Modified residuei91PhosphoserineCombined sources1
Modified residuei125Omega-N-methylarginineBy similarity1
Modified residuei144Omega-N-methylarginineBy similarity1
Modified residuei164Omega-N-methylarginineBy similarity1
Modified residuei165PhosphoserineCombined sources1
Modified residuei172Omega-N-methylarginineBy similarity1
Modified residuei174PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1
Modified residuei329PhosphoserineCombined sources1
Modified residuei330PhosphoserineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Modified residuei352PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated.1 Publication
Arg-185 is dimethylated, probably to asymmetric dimethylarginine.
Cleavage of initiator Met is partial. If Met-1 is not removed, it is acetylated. If it is removed, Val-2 is acetylated.1 Publication

Keywords - PTMi

Acetylation, Glycoprotein, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP38159
MaxQBiP38159
PaxDbiP38159
PeptideAtlasiP38159
PRIDEiP38159
ProteomicsDBi55284
55285 [P38159-2]
55286 [P38159-3]
TopDownProteomicsiP38159-1 [P38159-1]

2D gel databases

SWISS-2DPAGEiP38159

PTM databases

iPTMnetiP38159
PhosphoSitePlusiP38159
SwissPalmiP38159

Expressioni

Tissue specificityi

Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000147274 Expressed in 204 organ(s), highest expression level in kidney
CleanExiHS_RBMX
ExpressionAtlasiP38159 baseline and differential
GenevisibleiP38159 HS

Organism-specific databases

HPAiHPA057707

Interactioni

Subunit structurei

Homomultimer. Interacts with SAFB/SAFB1 (By similarity). Found in the supraspliceosome complex. Identified in the spliceosome C complex. Interacts with KHDRBS3. Forms a complex with ILF2, ILF3, YLPM1, KHDRBS1, NCOA5 and PPP1CA. Interacts with CLK2, KHDRBS2, SAFB, TRA2B and YTHDC1. Interacts with ERAP1; the interaction is RNA-independent.By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi118134, 168 interactors
CORUMiP38159
DIPiDIP-34447N
IntActiP38159, 97 interactors
MINTiP38159
STRINGi9606.ENSP00000359645

Structurei

Secondary structure

1391
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP38159
SMRiP38159
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 86RRMPROSITE-ProRule annotationAdd BLAST79

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni186 – 236Necessary for the association to nascent RNAPII transcripts and nuclear localizationAdd BLAST51
Regioni333 – 391Necessary for RNA-bindingAdd BLAST59

Domaini

The RRM domain is necessary for RNA-binding, but not for splice site selection, indicating that its splicing activity does not require direct binding to RNA.By similarity

Phylogenomic databases

eggNOGiENOG410IHG3 Eukaryota
ENOG4111GI6 LUCA
GeneTreeiENSGT00710000106295
HOGENOMiHOG000276235
HOVERGENiHBG063314
InParanoidiP38159
KOiK12885
OMAiDPGACFK
OrthoDBiEOG091G13K0
PhylomeDBiP38159
TreeFamiTF331833

Family and domain databases

Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR012604 RBM1CTR
IPR000504 RRM_dom
IPR003954 RRM_dom_euk
PfamiView protein in Pfam
PF08081 RBM1CTR, 1 hit
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SM00361 RRM_1, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P38159-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVEADRPGKL FIGGLNTETN EKALEAVFGK YGRIVEVLLM KDRETNKSRG
60 70 80 90 100
FAFVTFESPA DAKDAARDMN GKSLDGKAIK VEQATKPSFE SGRRGPPPPP
110 120 130 140 150
RSRGPPRGLR GGRGGSGGTR GPPSRGGHMD DGGYSMNFNM SSSRGPLPVK
160 170 180 190 200
RGPPPRSGGP PPKRSAPSGP VRSSSGMGGR APVSRGRDSY GGPPRREPLP
210 220 230 240 250
SRRDVYLSPR DDGYSTKDSY SSRDYPSSRD TRDYAPPPRD YTYRDYGHSS
260 270 280 290 300
SRDDYPSRGY SDRDGYGRDR DYSDHPSGGS YRDSYESYGN SRSAPPTRGP
310 320 330 340 350
PPSYGGSSRY DDYSSSRDGY GGSRDSYSSS RSDLYSSGRD RVGRQERGLP
360 370 380 390
PSMERGYPPP RDSYSSSSRG APRGGGRGGS RSDRGGGRSR Y
Length:391
Mass (Da):42,332
Last modified:September 19, 2002 - v3
Checksum:i904FEB9BFC573546
GO
Isoform 2 (identifier: P38159-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-57: Missing.

Show »
Length:378
Mass (Da):40,846
Checksum:i032DD488FA08CE19
GO
Isoform 3 (identifier: P38159-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-196: SLDGKAIKVE...RDSYGGPPRR → LLYHVEEIVM...YGRGVLIDSQ
     197-391: Missing.

Note: No experimental confirmation available.
Show »
Length:196
Mass (Da):22,172
Checksum:i7FB2ABEE20A3D582
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y6E7H0Y6E7_HUMAN
RNA-binding motif protein, X chromo...
RBMX
292Annotation score:
H3BT71H3BT71_HUMAN
RNA-binding motif protein, X chromo...
RBMX
296Annotation score:
H3BNC1H3BNC1_HUMAN
RNA-binding motif protein, X chromo...
RBMX
37Annotation score:
H3BR27H3BR27_HUMAN
RNA-binding motif protein, X chromo...
RBMX
78Annotation score:
H3BUY5H3BUY5_HUMAN
RNA-binding motif protein, X chromo...
RBMX
263Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti259G → E in CAA80599 (PubMed:7692398).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04220345 – 57Missing in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_04365073 – 196SLDGK…GPPRR → LLYHVEEIVMEVHLEGNRCP LVEMFICPQEMMGILLKTAI QAEITQVLVILEIMHHHHEI ILTVIMVIPVHVMTIHQEDI AIEMDMVVIVTIQIIQVEVP TEIHMRVMVGDFAHYGRGVL IDSQ in isoform 3. 1 PublicationAdd BLAST124
Alternative sequenceiVSP_043651197 – 391Missing in isoform 3. 1 PublicationAdd BLAST195

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z23064 mRNA Translation: CAA80599.1
AF266723
, AF266720, AF266721, AF266722 Genomic DNA Translation: AAK58567.1
AY464692 mRNA Translation: AAR28036.1
AK096015 mRNA Translation: BAC04674.1
AK304868 mRNA Translation: BAG65606.1
AL683813 Genomic DNA No translation available.
CH471150 Genomic DNA Translation: EAW88453.1
CH471150 Genomic DNA Translation: EAW88454.1
CH471150 Genomic DNA Translation: EAW88455.1
CH471150 Genomic DNA Translation: EAW88457.1
BC006550 mRNA Translation: AAH06550.1
BC007435 mRNA Translation: AAH07435.1
CCDSiCCDS14661.1 [P38159-1]
CCDS55510.1 [P38159-3]
RefSeqiNP_001158275.1, NM_001164803.1 [P38159-3]
NP_002130.2, NM_002139.3 [P38159-1]
UniGeneiHs.380118
Hs.710162

Genome annotation databases

EnsembliENST00000320676; ENSP00000359645; ENSG00000147274 [P38159-1]
ENST00000431446; ENSP00000411989; ENSG00000147274 [P38159-3]
GeneIDi27316
KEGGihsa:27316
UCSCiuc004fae.4 human [P38159-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z23064 mRNA Translation: CAA80599.1
AF266723
, AF266720, AF266721, AF266722 Genomic DNA Translation: AAK58567.1
AY464692 mRNA Translation: AAR28036.1
AK096015 mRNA Translation: BAC04674.1
AK304868 mRNA Translation: BAG65606.1
AL683813 Genomic DNA No translation available.
CH471150 Genomic DNA Translation: EAW88453.1
CH471150 Genomic DNA Translation: EAW88454.1
CH471150 Genomic DNA Translation: EAW88455.1
CH471150 Genomic DNA Translation: EAW88457.1
BC006550 mRNA Translation: AAH06550.1
BC007435 mRNA Translation: AAH07435.1
CCDSiCCDS14661.1 [P38159-1]
CCDS55510.1 [P38159-3]
RefSeqiNP_001158275.1, NM_001164803.1 [P38159-3]
NP_002130.2, NM_002139.3 [P38159-1]
UniGeneiHs.380118
Hs.710162

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MB0NMR-B1-95[»]
2MKSNMR-A1-90[»]
ProteinModelPortaliP38159
SMRiP38159
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118134, 168 interactors
CORUMiP38159
DIPiDIP-34447N
IntActiP38159, 97 interactors
MINTiP38159
STRINGi9606.ENSP00000359645

PTM databases

iPTMnetiP38159
PhosphoSitePlusiP38159
SwissPalmiP38159

Polymorphism and mutation databases

BioMutaiRBMX
DMDMi23503093

2D gel databases

SWISS-2DPAGEiP38159

Proteomic databases

EPDiP38159
MaxQBiP38159
PaxDbiP38159
PeptideAtlasiP38159
PRIDEiP38159
ProteomicsDBi55284
55285 [P38159-2]
55286 [P38159-3]
TopDownProteomicsiP38159-1 [P38159-1]

Protocols and materials databases

DNASUi27316
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320676; ENSP00000359645; ENSG00000147274 [P38159-1]
ENST00000431446; ENSP00000411989; ENSG00000147274 [P38159-3]
GeneIDi27316
KEGGihsa:27316
UCSCiuc004fae.4 human [P38159-1]

Organism-specific databases

CTDi27316
DisGeNETi27316
EuPathDBiHostDB:ENSG00000147274.14
GeneCardsiRBMX
HGNCiHGNC:9910 RBMX
HPAiHPA057707
MalaCardsiRBMX
MIMi300199 gene
300238 phenotype
neXtProtiNX_P38159
OpenTargetsiENSG00000147274
PharmGKBiPA34277
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHG3 Eukaryota
ENOG4111GI6 LUCA
GeneTreeiENSGT00710000106295
HOGENOMiHOG000276235
HOVERGENiHBG063314
InParanoidiP38159
KOiK12885
OMAiDPGACFK
OrthoDBiEOG091G13K0
PhylomeDBiP38159
TreeFamiTF331833

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA

Miscellaneous databases

ChiTaRSiRBMX human
GeneWikiiRBMX
GenomeRNAii27316
PROiPR:P38159
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147274 Expressed in 204 organ(s), highest expression level in kidney
CleanExiHS_RBMX
ExpressionAtlasiP38159 baseline and differential
GenevisibleiP38159 HS

Family and domain databases

Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR012604 RBM1CTR
IPR000504 RRM_dom
IPR003954 RRM_dom_euk
PfamiView protein in Pfam
PF08081 RBM1CTR, 1 hit
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SM00361 RRM_1, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRBMX_HUMAN
AccessioniPrimary (citable) accession number: P38159
Secondary accession number(s): B4E3U4
, D3DWH0, E9PG86, Q5JQ67, Q8N8Y7, Q969R3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: September 19, 2002
Last modified: November 7, 2018
This is version 206 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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