Human Gene RBMX (ENST00000320676.11_7) from GENCODE V47lift37
  Description: RNA binding motif protein X-linked, transcript variant 4 (from RefSeq NR_028477.2)
Gencode Transcript: ENST00000320676.11_7
Gencode Gene: ENSG00000147274.14_10
Transcript (Including UTRs)
   Position: hg19 chrX:135,955,620-135,962,884 Size: 7,265 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chrX:135,956,301-135,961,586 Size: 5,286 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:135,955,620-135,962,884)mRNA (may differ from genome)Protein (391 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBMX_HUMAN
DESCRIPTION: RecName: Full=RNA-binding motif protein, X chromosome; AltName: Full=Glycoprotein p43; AltName: Full=Heterogeneous nuclear ribonucleoprotein G; Short=hnRNP G; Contains: RecName: Full=RNA-binding motif protein, X chromosome, N-terminally processed;
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. 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.
SUBUNIT: 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.
INTERACTION: Q5VWX1:KHDRBS2; NbExp=2; IntAct=EBI-743526, EBI-742808;
SUBCELLULAR LOCATION: Nucleus. Note=Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.
TISSUE SPECIFICITY: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level).
DOMAIN: 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).
PTM: O-glycosylated.
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.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RBMX
Diseases sorted by gene-association score: mental retardation, x-linked, syndromic 11, shashi type* (950), x-linked hereditary ataxia (6), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.56 RPKM in Ovary
Total median expression: 1433.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.10155-0.343 Picture PostScript Text
3' UTR -133.00681-0.195 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR012604 - RBM1CTR
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF08081 - RBM1CTR (NUC064) family
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on P38159
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001047 core promoter binding
GO:0003676 nucleic acid binding
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0003727 single-stranded RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0042802 identical protein binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0001649 osteoblast differentiation
GO:0006351 transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006376 mRNA splice site selection
GO:0006397 mRNA processing
GO:0006509 membrane protein ectodomain proteolysis
GO:0008380 RNA splicing
GO:0016070 RNA metabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:0048026 positive regulation of mRNA splicing, via spliceosome
GO:0051259 protein oligomerization
GO:0051260 protein homooligomerization
GO:0071347 cellular response to interleukin-1

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005719 nuclear euchromatin
GO:0016020 membrane
GO:0044530 supraspliceosomal complex
GO:0070062 extracellular exosome
GO:0071013 catalytic step 2 spliceosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  BX647131 - Homo sapiens mRNA; cDNA DKFZp686M09166 (from clone DKFZp686M09166).
AK304868 - Homo sapiens cDNA FLJ59107 complete cds, moderately similar to Heterogeneous nuclear ribonucleoprotein G.
Z69915 - H.sapiens mRNA (clone ICRFp507L1876).
AK091520 - Homo sapiens cDNA FLJ34201 fis, clone FCBBF3019714, highly similar to HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G.
Z23064 - H.sapiens mRNA gene for hnRNP G protein.
BC006550 - Homo sapiens RNA binding motif protein, X-linked, mRNA (cDNA clone MGC:2471 IMAGE:3010123), complete cds.
BC007435 - Homo sapiens RNA binding motif protein, X-linked, mRNA (cDNA clone MGC:4146 IMAGE:3010123), complete cds.
AK096015 - Homo sapiens cDNA FLJ38696 fis, clone KIDNE2001931, highly similar to HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G.
JD284843 - Sequence 265867 from Patent EP1572962.
JD120317 - Sequence 101341 from Patent EP1572962.
JD456366 - Sequence 437390 from Patent EP1572962.
JD466068 - Sequence 447092 from Patent EP1572962.
JD379035 - Sequence 360059 from Patent EP1572962.
JD273966 - Sequence 254990 from Patent EP1572962.
JD549935 - Sequence 530959 from Patent EP1572962.
JD184356 - Sequence 165380 from Patent EP1572962.
JD110014 - Sequence 91038 from Patent EP1572962.
JD450611 - Sequence 431635 from Patent EP1572962.
JD309456 - Sequence 290480 from Patent EP1572962.
JD074451 - Sequence 55475 from Patent EP1572962.
JD048689 - Sequence 29713 from Patent EP1572962.
JD475043 - Sequence 456067 from Patent EP1572962.
BC073747 - Homo sapiens cDNA clone IMAGE:6208426, **** WARNING: chimeric clone ****.
JD346822 - Sequence 327846 from Patent EP1572962.
JD181067 - Sequence 162091 from Patent EP1572962.
JD312276 - Sequence 293300 from Patent EP1572962.
AK304573 - Homo sapiens cDNA FLJ54953 complete cds, highly similar to Heterogeneous nuclear ribonucleoprotein G.
JD068158 - Sequence 49182 from Patent EP1572962.
AY464692 - Homo sapiens heterogeneous nuclear ribonucleoprotein G mRNA, complete cds.
DQ893211 - Synthetic construct clone IMAGE:100005841; FLH195282.01X; RZPDo839A09152D RNA binding motif protein, X-linked (RBMX) gene, encodes complete protein.
KJ893634 - Synthetic construct Homo sapiens clone ccsbBroadEn_03028 RBMX gene, encodes complete protein.
DQ896540 - Synthetic construct Homo sapiens clone IMAGE:100011000; FLH195278.01L; RZPDo839A09151D RNA binding motif protein, X-linked (RBMX) gene, encodes complete protein.
JD081029 - Sequence 62053 from Patent EP1572962.
AK309911 - Homo sapiens cDNA, FLJ99952.
LF373916 - JP 2014500723-A/181419: Polycomb-Associated Non-Coding RNAs.
LF334082 - JP 2014500723-A/141585: Polycomb-Associated Non-Coding RNAs.
JD317503 - Sequence 298527 from Patent EP1572962.
MA609493 - JP 2018138019-A/181419: Polycomb-Associated Non-Coding RNAs.
MA569659 - JP 2018138019-A/141585: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P38159 (Reactome details) participates in the following event(s):

R-HSA-72103 Formation of pre-mRNPs
R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-8953854 Metabolism of RNA
R-HSA-72172 mRNA Splicing

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3U4, D3DWH0, E9PG86, ENST00000320676.1, ENST00000320676.10, ENST00000320676.2, ENST00000320676.3, ENST00000320676.4, ENST00000320676.5, ENST00000320676.6, ENST00000320676.7, ENST00000320676.8, ENST00000320676.9, HNRPG, NR_028477, P38159, Q5JQ67, Q8N8Y7, Q969R3, RBMXP1, RBMX_HUMAN, uc317qxq.1, uc317qxq.2
UCSC ID: ENST00000320676.11_7
RefSeq Accession: NM_002139.4
Protein: P38159 (aka RBMX_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.