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Aliases for RBM25 Gene

Aliases for RBM25 Gene

  • RNA Binding Motif Protein 25 2 3 5
  • Functional Spliceosome-Associated Protein 94 2 3
  • RNA-Binding Region (RNP1, RRM) Containing 7 2 3
  • RNA-Binding Region-Containing Protein 7 3 4
  • Arg/Glu/Asp-Rich Protein Of 120 KDa 3 4
  • RNA-Binding Motif Protein 25 3 4
  • RED120 3 4
  • RNPC7 3 4
  • U1 Small Nuclear Ribonucleoprotein 1SNRP Homolog 3
  • Arg/Glu/Asp-Rich Protein, 120 KDa 3
  • Protein S164 4
  • FSAP94 3
  • NET52 3
  • Snu71 3
  • S164 3

External Ids for RBM25 Gene

Previous HGNC Symbols for RBM25 Gene

  • RNPC7

Previous GeneCards Identifiers for RBM25 Gene

  • GC14P071517
  • GC14P072594
  • GC14P073525
  • GC14P053691

Summaries for RBM25 Gene

GeneCards Summary for RBM25 Gene

RBM25 (RNA Binding Motif Protein 25) is a Protein Coding gene. Diseases associated with RBM25 include kabuki syndrome 1. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for RBM25 Gene

  • RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5-splice site (5-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5-ss usage through the 5-CGGGCA-3 RNA sequence. Its association with LUC7L3 promotes U1 snRNP binding to a weak 5 ss in a 5-CGGGCA-3-dependent manner. Binds to the exonic splicing enhancer 5-CGGGCA-3 RNA sequence located within exon 2 of the BCL2L1 pre-mRNA. Also involved in the generation of an abnormal and truncated splice form of SCN5A in heart failure.

Gene Wiki entry for RBM25 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM25 Gene

Genomics for RBM25 Gene

Regulatory Elements for RBM25 Gene

Enhancers for RBM25 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBM25 on UCSC Golden Path with GeneCards custom track

Promoters for RBM25 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBM25 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBM25 Gene

Chromosome:
14
Start:
73,058,436 bp from pter
End:
73,123,898 bp from pter
Size:
65,463 bases
Orientation:
Plus strand

Genomic View for RBM25 Gene

Genes around RBM25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM25 Gene

Proteins for RBM25 Gene

  • Protein details for RBM25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49756-RBM25_HUMAN
    Recommended name:
    RNA-binding protein 25
    Protein Accession:
    P49756
    Secondary Accessions:
    • A0PJL9
    • B2RNA8
    • B3KT03
    • Q2TA72
    • Q5XJ17
    • Q6P665
    • Q9H6A1
    • Q9UEQ5
    • Q9UIE9

    Protein attributes for RBM25 Gene

    Size:
    843 amino acids
    Molecular mass:
    100185 Da
    Quaternary structure:
    • Interacts with LUC7L3 and SRRM1. Specifically associates with functional splicing complexes, including Sm proteins and U1, U2, U4, U5 and U6 snRNAs. Associates with exon junction complex (EJC) proteins, including APEX1, BAT1, NCBP1, RBM8A and RNPS1. Interaction with NCBP1 is RNA-dependent.
    SequenceCaution:
    • Sequence=AAH62440.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH62440.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH83496.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG52915.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBM25 Gene

    Alternative splice isoforms for RBM25 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM25 Gene

Proteomics data for RBM25 Gene at MOPED

Post-translational modifications for RBM25 Gene

No data available for DME Specific Peptides for RBM25 Gene

Domains & Families for RBM25 Gene

Gene Families for RBM25 Gene

Protein Domains for RBM25 Gene

Suggested Antigen Peptide Sequences for RBM25 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49756

UniProtKB/Swiss-Prot:

RBM25_HUMAN :
  • The PWI domain binds nucleic acids with significant help from its N-terminal flanking basic region. It has an equal preference for binding to single- or double-stranded species, and it contributes to RBM25 role in modulation of alternative splicing, maybe by mediating RNA-dependent association with LUC7L3.
Domain:
  • The PWI domain binds nucleic acids with significant help from its N-terminal flanking basic region. It has an equal preference for binding to single- or double-stranded species, and it contributes to RBM25 role in modulation of alternative splicing, maybe by mediating RNA-dependent association with LUC7L3.
  • Contains 1 PWI domain.
  • Contains 1 RRM (RNA recognition motif) domain.
genes like me logo Genes that share domains with RBM25: view

Function for RBM25 Gene

Molecular function for RBM25 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5-splice site (5-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5-ss usage through the 5-CGGGCA-3 RNA sequence. Its association with LUC7L3 promotes U1 snRNP binding to a weak 5 ss in a 5-CGGGCA-3-dependent manner. Binds to the exonic splicing enhancer 5-CGGGCA-3 RNA sequence located within exon 2 of the BCL2L1 pre-mRNA. Also involved in the generation of an abnormal and truncated splice form of SCN5A in heart failure.

Gene Ontology (GO) - Molecular Function for RBM25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with RBM25: view
genes like me logo Genes that share phenotypes with RBM25: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM25 Gene

Localization for RBM25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM25 Gene

Nucleus speckle. Cytoplasm. Note=Colocalizes predominantly, with SFRS2 and LUC7L3 splicing factors, in nuclear speckles. Cytoplasmic localization is faint.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBM25 Gene COMPARTMENTS Subcellular localization image for RBM25 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RBM25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RBM25: view

Pathways & Interactions for RBM25 Gene

SuperPathways for RBM25 Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with RBM25: view

Pathways by source for RBM25 Gene

1 KEGG pathway for RBM25 Gene

Gene Ontology (GO) - Biological Process for RBM25 Gene

None

No data available for SIGNOR curated interactions for RBM25 Gene

Drugs & Compounds for RBM25 Gene

No Compound Related Data Available

Transcripts for RBM25 Gene

Unigene Clusters for RBM25 Gene

RNA binding motif protein 25:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBM25 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18 ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8: -
SP9:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for RBM25 Gene

GeneLoc Exon Structure for
RBM25
ECgene alternative splicing isoforms for
RBM25

Expression for RBM25 Gene

mRNA expression in normal human tissues for RBM25 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBM25 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBM25 Gene



SOURCE GeneReport for Unigene cluster for RBM25 Gene Hs.531106

genes like me logo Genes that share expression patterns with RBM25: view

Protein tissue co-expression partners for RBM25 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBM25 Gene

Orthologs for RBM25 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM25 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBM25 35
  • 93.44 (n)
  • 99.88 (a)
RBM25 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBM25 35
  • 99.92 (n)
  • 100 (a)
RBM25 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBM25 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBM25 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm25 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM25 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBM25 35
  • 83.7 (n)
  • 95.71 (a)
RBM25 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM25 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8931 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1918 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
rbm25 36
  • 71 (a)
OneToMany
RBM25 (2 of 2) 36
  • 70 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2941 35
fruit fly
(Drosophila melanogaster)
Insecta CG4119 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea W04D2.6 36
  • 35 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4527 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for RBM25:
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 RBM25 Gene

ENSEMBL:
Gene Tree for RBM25 (if available)
TreeFam:
Gene Tree for RBM25 (if available)

Paralogs for RBM25 Gene

No data available for Paralogs for RBM25 Gene

Variants for RBM25 Gene

Sequence variations from dbSNP and Humsavar for RBM25 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs165936 -- 73,112,673(-) CAAAG(C/G)ATGGG intron-variant
rs165937 -- 73,115,028(-) AGGTT(C/T)CAGTA intron-variant
rs214287 -- 73,119,368(-) gaatg(A/G)cgtga intron-variant
rs214288 -- 73,118,478(-) TTTTC(C/T)GGAGA intron-variant
rs214289 -- 73,110,652(-) cagga(C/G)tttga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBM25 Gene

Variant ID Type Subtype PubMed ID
esv2658707 CNV Deletion 23128226
esv27604 CNV Loss 19812545
esv2669446 CNV Deletion 23128226
esv2748862 CNV Deletion 23290073
esv33255 CNV Loss 17666407
esv27860 CNV Loss 19812545
esv2748864 CNV Deletion 23290073
esv2677511 CNV Deletion 23128226

Variation tolerance for RBM25 Gene

Residual Variation Intolerance Score: 5.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBM25 Gene

HapMap Linkage Disequilibrium report
RBM25

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM25 Gene

Disorders for RBM25 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBM25 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBM25 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBM25

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM25
genes like me logo Genes that share disorders with RBM25: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBM25 Gene

Publications for RBM25 Gene

  1. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. (PMID: 7596406) Sherrington R. … St George-Hyslop P.H. (Nature 1995) 2 3 4 67
  2. Toward a complete human genome sequence. (PMID: 9847074) Sulston J.E. … Waterston R. (Genome Res. 1998) 2 3
  3. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for RBM25 Gene

Sources for RBM25 Gene

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