RBM10 Gene (Protein Coding)

RNA Binding Motif Protein 10

GC0XP047162
GIFtS:
40
This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Ma... See more...

Aliases for RBM10 Gene

Aliases for RBM10 Gene

  • RNA Binding Motif Protein 10 2 3 5
  • DXS8237E 2 3 4
  • GPATCH9 2 3 4
  • GPATC9 2 3 4
  • S1-1 2 3 4
  • G Patch Domain-Containing Protein 9 3 4
  • RNA-Binding Protein S1-1 3 4
  • RNA-Binding Protein 10 3 4
  • KIAA0122 2 4
  • ZRANB5 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • RNA-Binding Motif Protein 10 4
  • TARPS 3
  • RBM10 5

External Ids for RBM10 Gene

Previous GeneCards Identifiers for RBM10 Gene

  • GC0XP045807
  • GC0XP045265
  • GC0XP045830
  • GC0XP046050
  • GC0XP046760
  • GC0XP046889
  • GC0XP047004
  • GC0XP044717
  • GC0XP047144
  • GC0XP047147
  • GC0XP047150
  • GC0XP047154

Summaries for RBM10 Gene

Entrez Gene Summary for RBM10 Gene

  • This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

GeneCards Summary for RBM10 Gene

RBM10 (RNA Binding Motif Protein 10) is a Protein Coding gene. Diseases associated with RBM10 include Tarp Syndrome and Skin Angiosarcoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is RBM5.

UniProtKB/Swiss-Prot Summary for RBM10 Gene

  • May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233).

Gene Wiki entry for RBM10 Gene

Additional gene information for RBM10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM10 Gene

Genomics for RBM10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RBM10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBM10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBM10

Top Transcription factor binding sites by QIAGEN in the RBM10 gene promoter:
  • Arnt
  • C/EBPbeta
  • ER-alpha
  • LUN-1
  • MyoD
  • Nkx2-5
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RBM10 Gene

Genomic Locations for RBM10 Gene
chrX:47,145,196-47,186,815
(GRCh38/hg38)
Size:
41,620 bases
Orientation:
Plus strand
chrX:47,004,268-47,046,214
(GRCh37/hg19)
Size:
41,947 bases
Orientation:
Plus strand

Genomic View for RBM10 Gene

Genes around RBM10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RBM10 Gene

Proteins for RBM10 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RBM10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98175-RBM10_HUMAN
    Recommended name:
    RNA-binding protein 10
    Protein Accession:
    P98175
    Secondary Accessions:
    • A0A0A0MR66
    • C4AM81
    • Q14136
    • Q5JRR2
    • Q9BTE4
    • Q9BTX0
    • Q9NTB1

    Protein attributes for RBM10 Gene

    Size:
    930 amino acids
    Molecular mass:
    103533 Da
    Quaternary structure:
    • Associates with the spliceosome. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5.
    SequenceCaution:
    • Sequence=AAB33572.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA09471.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB70731.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB70731.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBM10 Gene

    Alternative splice isoforms for RBM10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM10 Gene

Protein Expression for RBM10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RBM10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for RBM10

No data available for DME Specific Peptides for RBM10 Gene

Domains & Families for RBM10 Gene

Gene Families for RBM10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RBM10 Gene

InterPro:
Blocks:
  • Zn-finger, Ran-binding
  • RNA-binding region RNP-1 (RNA recognition motif)
  • D111/G-patch domain
ProtoNet:

Suggested Antigen Peptide Sequences for RBM10 Gene

GenScript: Design optimal peptide antigens:
  • RBM10 protein (Q6PKH5_HUMAN)
  • RNA-binding protein S1-1 (RBM10_HUMAN)
genes like me logo Genes that share domains with RBM10: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBM10 Gene

Function for RBM10 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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Molecular function for RBM10 Gene

UniProtKB/Swiss-Prot Function:
May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins (PubMed:28431233).
GENATLAS Biochemistry:
RNA binding motif protein 10,expressed probe DXS8237-clone1,1,3kb,homolog to RBM5 located on chromosome 3,in a region duplicated from Xp11.3-p11.23

Gene Ontology (GO) - Molecular Function for RBM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0005515 protein binding IPI 22365833
GO:0035198 miRNA binding IDA 28431233
GO:0042802 identical protein binding IPI 22365833
genes like me logo Genes that share ontologies with RBM10: view
genes like me logo Genes that share phenotypes with RBM10: view

Human Phenotype Ontology for RBM10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM10

Clone Products

  • Addgene plasmids for RBM10

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM10 Gene

Localization for RBM10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM10 Gene

Nucleus. Note=In the extranucleolar nucleoplasm constitutes hundreds of nuclear domains, which dynamically change their structures in a reversible manner. Upon globally reducing RNA polymerase II transcription, the nuclear bodies enlarge and decrease in number. They occur closely adjacent to nuclear speckles or IGCs (interchromatin granule clusters) but coincide with TIDRs (transcription-inactivation-dependent RNA domains).

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 RBM10 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 28091594
GO:0016607 nuclear speck IDA --
GO:0032991 protein-containing complex IPI 17707232
genes like me logo Genes that share ontologies with RBM10: view

Pathways & Interactions for RBM10 Gene

PathCards logo

SuperPathways for RBM10 Gene

No Data Available

SIGNOR curated interactions for RBM10 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for RBM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0000398 mRNA splicing, via spliceosome IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RBM10: view

No data available for Pathways by source for RBM10 Gene

Drugs & Compounds for RBM10 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for RBM10 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RBM10 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM10

Clone Products

  • Addgene plasmids for RBM10

Alternative Splicing Database (ASD) splice patterns (SP) for RBM10 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - - - -
SP2: -
SP3: -
SP4:
SP5: -
SP6: - - - - - - - - - - - - - - - - -
SP7:
SP8: - -
SP9: -
SP10: - - - - - - - -
SP11: -
SP12:

ExUns: 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RBM10 Gene

GeneLoc Exon Structure for
RBM10

Expression for RBM10 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBM10 Gene

mRNA expression in normal human tissues for RBM10 Gene
mRNA expression by BioGPS for RBM10 GenemRNA expression by GTEx for RBM10 Gene

Protein differential expression in normal tissues from HIPED for RBM10 Gene

This gene is overexpressed in Bone marrow stromal cell (15.1), Peripheral blood mononuclear cells (15.0), and Pancreas (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBM10 Gene



Protein tissue co-expression partners for RBM10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBM10

SOURCE GeneReport for Unigene cluster for RBM10 Gene:

Hs.401509

Evidence on tissue expression from TISSUES for RBM10 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Liver(4.4)
  • Muscle(4.4)
  • Bone marrow(4.3)
  • Skin(2.3)
  • Blood(2.2)
  • Kidney(2.1)
  • Intestine(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
Pelvis:
  • testicle
  • ureter
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • radius
  • toe
  • upper limb
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with RBM10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBM10 Gene

Orthologs for RBM10 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM10 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia RBM10 30 31
  • 92.27 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RBM10 30 31
  • 91.99 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rbm10 30 17 31
  • 90.2 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rbm10 30
  • 88.36 (n)
Chimpanzee
(Pan troglodytes)
 Mammalia RBM10 31
  • 86 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RBM10 31
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia RBM10 31
  • 75 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RBM10 31
  • 77 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii LOC101882554 30
  • 64.17 (n)
rbm10 31
  • 54 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG4896 30 31 32
  • 48.72 (n)
 ManyToMany
CG4887 31
  • 25 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008577 30
  • 34.89 (n)
Worm
(Caenorhabditis elegans)
 Secernentea T08B2.5 31
  • 21 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 42 (a)
 OneToMany
Species where no ortholog for RBM10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RBM10 Gene

ENSEMBL:
Gene Tree for RBM10 (if available)
TreeFam:
Gene Tree for RBM10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM10: view image

Paralogs for RBM10 Gene

Paralogs for RBM10 Gene

(2) SIMAP similar genes for RBM10 Gene using alignment to 2 proteins:

  • RBM10_HUMAN
  • Q6PKH5_HUMAN
genes like me logo Genes that share paralogs with RBM10: view

Variants for RBM10 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBM10 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
689369 Likely Pathogenic: Microcephaly; Intellectual disability 47,171,179(+) AGGAG/A FRAMESHIFT_VARIANT,INTRON_VARIANT
689781 Pathogenic: TARP syndrome 47,179,165(+) T/C SPLICE_DONOR_VARIANT
715386 Likely Benign: not provided 47,185,570(+) A/T SYNONYMOUS_VARIANT
718580 Benign: not provided 47,171,186(+) TGAG/T INFRAME_DELETION,INTRON_VARIANT
719274 Benign: not provided 47,181,607(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RBM10 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBM10 Gene

Variant ID Type Subtype PubMed ID
esv2740135 CNV deletion 23290073
esv2740136 CNV deletion 23290073
esv3348711 CNV insertion 20981092
nsv6886 CNV deletion 18451855

Variation tolerance for RBM10 Gene

Residual Variation Intolerance Score: 7.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBM10 Gene

Human Gene Mutation Database (HGMD)
RBM10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM10

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM10 Gene

Disorders for RBM10 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RBM10 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tarp syndrome
  • tarps
skin angiosarcoma
  • angiosarcoma of skin
tumor of exocrine pancreas
  • malignant neoplasm of the exocrine pancreas
atrial heart septal defect
  • atrial septal defect
renal cell carcinoma, papillary, 1
  • rccp1
- elite association - COSMIC cancer census association via MalaCards
Search RBM10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBM10_HUMAN
  • TARP syndrome (TARPS) [MIM:311900]: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. {ECO:0000269 PubMed:20451169}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RBM10

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RBM10: view

No data available for Genatlas for RBM10 Gene

Publications for RBM10 Gene

  1. A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. (PMID: 8808293) Coleman MP … Davies KE (Genomics 1996) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  3. A Compendium of RNA-Binding Proteins that Regulate MicroRNA Biogenesis. (PMID: 28431233) Treiber T … Meister G (Molecular cell 2017) 3 4
  4. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. (PMID: 20451169) Johnston JJ … Biesecker LG (American journal of human genetics 2010) 3 4
  5. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N … Gygi SP (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4

ExternalLinks

View latest publications for RBM10 gene in Mastermind

Products for RBM10 Gene

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  • Signalway Proteins for RBM10

Sources for RBM10 Gene