Human Gene RBM10 (ENST00000377604.8_7) from GENCODE V47lift37
  Description: RNA binding motif protein 10, transcript variant 1 (from RefSeq NM_005676.5)
Gencode Transcript: ENST00000377604.8_7
Gencode Gene: ENSG00000182872.16_12
Transcript (Including UTRs)
   Position: hg19 chrX:47,004,620-47,046,212 Size: 41,593 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chrX:47,006,881-47,045,998 Size: 39,118 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:47,004,620-47,046,212)mRNA (may differ from genome)Protein (930 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBM10_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein 10; AltName: Full=G patch domain-containing protein 9; AltName: Full=RNA-binding motif protein 10; AltName: Full=RNA-binding protein S1-1; Short=S1-1;
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).
SUBUNIT: Associates with the spliceosome. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5.
SUBCELLULAR LOCATION: 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).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in RBM10 are the cause of TARP syndrome (TARPS) [MIM:311900]. It is a disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.
SIMILARITY: Contains 1 C2H2-type zinc finger.
SIMILARITY: Contains 1 G-patch domain.
SIMILARITY: Contains 1 RanBP2-type zinc finger.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.
SEQUENCE CAUTION: Sequence=AAB33572.1; Type=Frameshift; Positions=696; Sequence=BAA09471.1; Type=Erroneous initiation; Sequence=CAB70731.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB70731.1; Type=Frameshift; Positions=Several;

-  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: RBM10
Diseases sorted by gene-association score: tarp syndrome* (1378), talipes equinovarus (11), spinal cord ependymoma (9), lymphogranuloma venereum (9), spinal cord glioma (9), atrial heart septal defect (4), pierre robin syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 45.89 RPKM in Brain - Cerebellum
Total median expression: 1146.86 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -181.00390-0.464 Picture PostScript Text
3' UTR -82.30214-0.385 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
IPR000467 - G_patch_dom
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR001876 - Znf_RanBP2

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF00641 - Zn-finger in Ran binding protein and others
PF01585 - G-patch domain
PF12656 - G-patch domain
PF17780 - OCRE domain

SCOP Domains:
54928 - RNA-binding domain, RBD
57667 - beta-beta-alpha zinc fingers
90209 - Ran binding protein zinc finger-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2LXI - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P98175
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0035198 miRNA binding
GO:0042802 identical protein binding
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008150 biological_process
GO:0008380 RNA splicing
GO:0042981 regulation of apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  BC008733 - Homo sapiens RNA binding motif protein 10, mRNA (cDNA clone MGC:997 IMAGE:3163064), complete cds.
AK000962 - Homo sapiens cDNA FLJ10100 fis, clone HEMBA1002469.
AK225175 - Homo sapiens mRNA for RNA-binding protein 10 variant, clone: CBR06542.
BC004181 - Homo sapiens RNA binding motif protein 10, mRNA (cDNA clone MGC:2794 IMAGE:2961094), complete cds.
BX537969 - Homo sapiens mRNA; cDNA DKFZp686E2459 (from clone DKFZp686E2459); complete cds.
AK292758 - Homo sapiens cDNA FLJ77202 complete cds, highly similar to Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 2, mRNA.
AL137421 - Homo sapiens mRNA; cDNA DKFZp434P072 (from clone DKFZp434P072); partial cds.
BC003089 - Homo sapiens RNA binding motif protein 10, mRNA (cDNA clone MGC:1132 IMAGE:3536058), complete cds.
JD476277 - Sequence 457301 from Patent EP1572962.
JD206056 - Sequence 187080 from Patent EP1572962.
JD206057 - Sequence 187081 from Patent EP1572962.
GQ900942 - Homo sapiens clone HEL-T-54 epididymis secretory sperm binding protein mRNA, complete cds.
D50912 - Homo sapiens mRNA for KIAA0122 gene.
JD199355 - Sequence 180379 from Patent EP1572962.
JD421278 - Sequence 402302 from Patent EP1572962.
JD560214 - Sequence 541238 from Patent EP1572962.
JD222833 - Sequence 203857 from Patent EP1572962.
AM393073 - Synthetic construct Homo sapiens clone IMAGE:100001983 for hypothetical protein (RBM10 gene).
JD392642 - Sequence 373666 from Patent EP1572962.
JD468710 - Sequence 449734 from Patent EP1572962.
JD436756 - Sequence 417780 from Patent EP1572962.
JD309811 - Sequence 290835 from Patent EP1572962.
JD454507 - Sequence 435531 from Patent EP1572962.
JD365483 - Sequence 346507 from Patent EP1572962.
JD222972 - Sequence 203996 from Patent EP1572962.
BC024153 - Homo sapiens RNA binding motif protein 10, mRNA (cDNA clone MGC:16349 IMAGE:3845258), complete cds.
CU679067 - Synthetic construct Homo sapiens gateway clone IMAGE:100017848 5' read RBM10 mRNA.
CU678364 - Synthetic construct Homo sapiens gateway clone IMAGE:100020509 5' read RBM10 mRNA.
AB383756 - Synthetic construct DNA, clone: pF1KSDA0122, Homo sapiens RBM10 gene for RNA binding motif protein 10, complete cds, without stop codon, in Flexi system.
KJ892482 - Synthetic construct Homo sapiens clone ccsbBroadEn_01876 RBM10 gene, encodes complete protein.
KJ897818 - Synthetic construct Homo sapiens clone ccsbBroadEn_07212 RBM10 gene, encodes complete protein.
KU178411 - Homo sapiens RNA binding motif protein 10 isoform 1 (RBM10) mRNA, partial cds.
KU178412 - Homo sapiens RNA binding motif protein 10 isoform 2 (RBM10) mRNA, partial cds.
LF205175 - JP 2014500723-A/12678: Polycomb-Associated Non-Coding RNAs.
AK098115 - Homo sapiens cDNA FLJ40796 fis, clone TRACH2007754, highly similar to DXS8237E PROTEIN.
LF317265 - JP 2014500723-A/124768: Polycomb-Associated Non-Coding RNAs.
BC000681 - Homo sapiens RNA binding motif protein 10, mRNA (cDNA clone IMAGE:3349287), partial cds.
LF317264 - JP 2014500723-A/124767: Polycomb-Associated Non-Coding RNAs.
AK025854 - Homo sapiens cDNA: FLJ22201 fis, clone HRC01285.
U35373 - Human DXS8237E mRNA, partial cds.
LF317263 - JP 2014500723-A/124766: Polycomb-Associated Non-Coding RNAs.
LF317262 - JP 2014500723-A/124765: Polycomb-Associated Non-Coding RNAs.
AK024839 - Homo sapiens cDNA: FLJ21186 fis, clone CAS11677.
LF317261 - JP 2014500723-A/124764: Polycomb-Associated Non-Coding RNAs.
LF317260 - JP 2014500723-A/124763: Polycomb-Associated Non-Coding RNAs.
LF317259 - JP 2014500723-A/124762: Polycomb-Associated Non-Coding RNAs.
LF317258 - JP 2014500723-A/124761: Polycomb-Associated Non-Coding RNAs.
JD286882 - Sequence 267906 from Patent EP1572962.
JD525108 - Sequence 506132 from Patent EP1572962.
JD053046 - Sequence 34070 from Patent EP1572962.
JD262398 - Sequence 243422 from Patent EP1572962.
JD209388 - Sequence 190412 from Patent EP1572962.
JD456722 - Sequence 437746 from Patent EP1572962.
JD303156 - Sequence 284180 from Patent EP1572962.
MA440752 - JP 2018138019-A/12678: Polycomb-Associated Non-Coding RNAs.
MA552842 - JP 2018138019-A/124768: Polycomb-Associated Non-Coding RNAs.
MA552841 - JP 2018138019-A/124767: Polycomb-Associated Non-Coding RNAs.
MA552840 - JP 2018138019-A/124766: Polycomb-Associated Non-Coding RNAs.
MA552839 - JP 2018138019-A/124765: Polycomb-Associated Non-Coding RNAs.
MA552838 - JP 2018138019-A/124764: Polycomb-Associated Non-Coding RNAs.
MA552837 - JP 2018138019-A/124763: Polycomb-Associated Non-Coding RNAs.
MA552836 - JP 2018138019-A/124762: Polycomb-Associated Non-Coding RNAs.
MA552835 - JP 2018138019-A/124761: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MR66, C4AM81, DXS8237E, ENST00000377604.1, ENST00000377604.2, ENST00000377604.3, ENST00000377604.4, ENST00000377604.5, ENST00000377604.6, ENST00000377604.7, GPATC9, GPATCH9, KIAA0122, NM_005676, P98175, Q14136, Q5JRR2, Q9BTE4, Q9BTX0, Q9NTB1, RBM10 , RBM10_HUMAN, uc318nsq.1, uc318nsq.2
UCSC ID: ENST00000377604.8_7
RefSeq Accession: NM_005676.5
Protein: P98175 (aka RBM10_HUMAN or RBMA_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.