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Aliases for RBMX Gene

Aliases for RBMX Gene

  • RNA Binding Motif Protein, X-Linked 2 3 5
  • Heterogeneous Nuclear Ribonucleoprotein G 2 3 4
  • Glycoprotein P43 3 4
  • HnRNP G 3 4
  • RBMXP1 3 4
  • HNRPG 3 4
  • RNA Binding Motif Protein, X Chromosome 2
  • RNA-Binding Motif Protein, X Chromosome 3
  • HnRNP-G 3
  • HNRNPG 3
  • MRXS11 3
  • RBMXRT 3
  • RNMX 3

External Ids for RBMX Gene

Previous GeneCards Identifiers for RBMX Gene

  • GC0XM130523
  • GC0XM132801
  • GC0XM133874
  • GC0XM134661
  • GC0XM135681
  • GC0XM135783
  • GC0XM135951
  • GC0XM125221

Summaries for RBMX Gene

Entrez Gene Summary for RBMX Gene

  • This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

GeneCards Summary for RBMX Gene

RBMX (RNA Binding Motif Protein, X-Linked) is a Protein Coding gene. Diseases associated with RBMX include X-Linked Hereditary Ataxia and Fragile X-Associated Tremor/Ataxia Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and Chromatin Regulation / Acetylation. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RBMXL1.

UniProtKB/Swiss-Prot for RBMX Gene

  • 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.

Gene Wiki entry for RBMX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBMX Gene

Genomics for RBMX Gene

Regulatory Elements for RBMX Gene

Enhancers for RBMX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF136258 1.2 Ensembl ENCODE 4.7 +620.3 620338 3.6 PKNOX1 ARID4B ZNF2 ZNF48 YY1 ZNF766 NFYC MBD2 GLIS1 NBN MAP7D3 RBMX STK24P1
GH0XF136884 1.2 Ensembl ENCODE 0.8 -4.7 -4654 2.9 PKNOX1 ATF1 ARNT CREB3L1 GATA2 NCOA1 MBD2 MEF2D SMARCA4 NBN RBMX LOC100420958
GH0XF136878 1.1 ENCODE 0.8 +0.6 647 2.8 PKNOX1 ATF1 WRNIP1 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ARHGEF6 SRRM1P3 ENSG00000232611 GC0XM136880 GC0XM136881 SNORD61 RBMX
GH0XF136898 0.8 ENCODE 0.3 -18.3 -18251 1.0 BCOR ZNF146 PKNOX1 TAL1 ZNF766 NCOR1 TRIM24 EGR2 NFIA MTA2 LOC100420958 RBMX
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBMX on UCSC Golden Path with GeneCards custom track

Promoters for RBMX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000261693 880 3001 PKNOX1 ATF1 WRNIP1 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2

Genomic Location for RBMX Gene

Chromosome:
X
Start:
136,848,004 bp from pter
End:
136,880,780 bp from pter
Size:
32,777 bases
Orientation:
Minus strand

Genomic View for RBMX Gene

Genes around RBMX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBMX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBMX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBMX Gene

Proteins for RBMX Gene

  • Protein details for RBMX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38159-RBMX_HUMAN
    Recommended name:
    RNA-binding motif protein, X chromosome
    Protein Accession:
    P38159
    Secondary Accessions:
    • B4E3U4
    • D3DWH0
    • E9PG86
    • Q5JQ67
    • Q8N8Y7
    • Q969R3

    Protein attributes for RBMX Gene

    Size:
    391 amino acids
    Molecular mass:
    42332 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for RBMX Gene

    Alternative splice isoforms for RBMX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBMX Gene

Post-translational modifications for RBMX Gene

  • 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.
  • O-glycosylated.
  • Ubiquitination at Lys 22 and Lys 30
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBMX Gene

Domains & Families for RBMX Gene

Gene Families for RBMX Gene

Graphical View of Domain Structure for InterPro Entry

P38159

UniProtKB/Swiss-Prot:

RBMX_HUMAN :
  • 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.
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.
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBMX: view

Function for RBMX Gene

Molecular function for RBMX Gene

GENATLAS Biochemistry:
heterogeneous nuclear RNA ribonucleoprotein complex,core protein G (p43),RBMY paralog on chromosome X,previously mapped to chromosome 6 (see RBMXP1)
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001047 core promoter binding IDA 18541147
GO:0003676 nucleic acid binding IEA --
GO:0003682 chromatin binding IDA 18541147
GO:0003723 RNA binding IEA,NAS 7692398
genes like me logo Genes that share ontologies with RBMX: view
genes like me logo Genes that share phenotypes with RBMX: view

Animal Models for RBMX Gene

MGI Knock Outs for RBMX:
  • Rbmx tm2b(KOMP)Wtsi

Animal Model Products

miRNA for RBMX Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBMX Gene

Localization for RBMX Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBMX Gene

Nucleus. Note=Component of ribonucleosomes. Localizes in numerous small granules in the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBMX gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IEA,IDA 19282290
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005719 nuclear euchromatin IDA 21327109
genes like me logo Genes that share ontologies with RBMX: view

Pathways & Interactions for RBMX Gene

genes like me logo Genes that share pathways with RBMX: view

Pathways by source for RBMX Gene

3 Cell Signaling Technology pathways for RBMX Gene
1 BioSystems pathway for RBMX Gene

Gene Ontology (GO) - Biological Process for RBMX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 12165565
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006351 transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 21327109
genes like me logo Genes that share ontologies with RBMX: view

No data available for SIGNOR curated interactions for RBMX Gene

Transcripts for RBMX Gene

Unigene Clusters for RBMX Gene

RNA binding motif protein, X-linked:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBMX Gene

No ASD Table

Relevant External Links for RBMX Gene

GeneLoc Exon Structure for
RBMX
ECgene alternative splicing isoforms for
RBMX

Expression for RBMX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBMX Gene

Protein differential expression in normal tissues from HIPED for RBMX Gene

This gene is overexpressed in Nasal epithelium (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RBMX Gene



Protein tissue co-expression partners for RBMX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RBMX Gene:

RBMX

SOURCE GeneReport for Unigene cluster for RBMX Gene:

Hs.380118

mRNA Expression by UniProt/SwissProt for RBMX Gene:

P38159-RBMX_HUMAN
Tissue specificity: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level).
genes like me logo Genes that share expression patterns with RBMX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RBMX Gene

Orthologs for RBMX Gene

This gene was present in the common ancestor of animals.

Orthologs for RBMX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBMX 34
  • 99.74 (n)
-- 35
  • 60 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Rbmxl1 35
  • 98 (a)
ManyToMany
Rbmx 34 16
  • 93.35 (n)
dog
(Canis familiaris)
Mammalia RBMX 34 35
  • 96.68 (n)
cow
(Bos Taurus)
Mammalia RBMX 34
  • 95.91 (n)
rat
(Rattus norvegicus)
Mammalia Rbmx 34
  • 93.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves RBMX 34 35
  • 81.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rbmx 34
  • 77.22 (n)
Str.17070 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25221 34
zebrafish
(Danio rerio)
Actinopterygii rbmx 34 35
  • 67.06 (n)
wufb37c07 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8906 34
fruit fly
(Drosophila melanogaster)
Insecta tra2 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rsp-8 35
  • 24 (a)
OneToMany
Species where no ortholog for RBMX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBMX Gene

ENSEMBL:
Gene Tree for RBMX (if available)
TreeFam:
Gene Tree for RBMX (if available)

Paralogs for RBMX Gene

Variants for RBMX Gene

Sequence variations from dbSNP and Humsavar for RBMX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs10147 -- 136,873,511(-) TTAAG(A/T)GTGTG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1053044 -- 136,869,587(-) TTTTT(A/G)CACTC utr-variant-3-prime
rs1053053 -- 136,869,565(-) TAGCC(C/G)AATCT utr-variant-3-prime
rs1053065 -- 136,869,560(-) CAATC(C/T)TTCTA utr-variant-3-prime
rs1053069 -- 136,869,556(-) CTTTC(C/T)ATACT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RBMX Gene

Variant ID Type Subtype PubMed ID
esv3574735 CNV loss 25503493

Variation tolerance for RBMX Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBMX Gene

Human Gene Mutation Database (HGMD)
RBMX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBMX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBMX Gene

Disorders for RBMX Gene

MalaCards: The human disease database

(3) MalaCards diseases for RBMX Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
x-linked hereditary ataxia
fragile x-associated tremor/ataxia syndrome
  • fragile x tremor/ataxia syndrome
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search RBMX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBMX_HUMAN
  • Mental retardation, X-linked, syndromic, 11 (MRXS11) [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 mutations affecting the gene represented in this entry.

Relevant External Links for RBMX

Genetic Association Database (GAD)
RBMX
Human Genome Epidemiology (HuGE) Navigator
RBMX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBMX
genes like me logo Genes that share disorders with RBMX: view

No data available for Genatlas for RBMX Gene

Publications for RBMX Gene

  1. Heterogeneous nuclear ribonucleoprotein G regulates splice site selection by binding to CC(A/C)-rich regions in pre-mRNA. (PMID: 19282290) Heinrich B. … Stamm S. (J. Biol. Chem. 2009) 3 4 22 64
  2. HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding. (PMID: 12761049) Nasim M.T. … Eperon I.C. (Hum. Mol. Genet. 2003) 3 4 22 64
  3. Expression and conservation of processed copies of the RBMX gene. (PMID: 11420617) Lingenfelter P.A. … Disteche C.M. (Mamm. Genome 2001) 3 4 22 64
  4. hnRNP G: sequence and characterization of a glycosylated RNA-binding protein. (PMID: 7692398) Soulard M. … Larsen C.-J. (Nucleic Acids Res. 1993) 3 4 22 64
  5. The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. (PMID: 25256757) Shashi V. … Need A.C. (Clin. Genet. 2015) 3 4 64

Products for RBMX Gene

Sources for RBMX Gene

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