RBM10 (RNA binding motif protein 10)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8241
Gene name RNA binding motif protein 10
Gene symbol RBM10
Synonyms (NCBI Gene)
DXS8237EGPATC9GPATCH9MINAS-60S1-1TARPSZRANB5
Chromosome X
Chromosome location Xp11.3
Summary 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
SNPs SNP information provided by dbSNP.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
SNP ID Visualize variation Clinical significance Consequence
rs149109733 A>G Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs267607000 G>A Pathogenic Coding sequence variant, stop gained
rs886041461 AT>- Pathogenic Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886041742 ->T Pathogenic Splice donor variant
rs886044715 ->A Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
miRTarBase ID miRNA Experiments Reference
MIRT049482 hsa-miR-92a-3p qRT-PCR 23622248
MIRT050535 hsa-miR-20a-5p CLASH 23622248
MIRT049482 hsa-miR-92a-3p CLASH 23622248
MIRT046742 hsa-miR-222-3p CLASH 23622248
MIRT045311 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300080 9896 ENSG00000182872
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98175
Protein name RNA-binding protein 10 (G patch domain-containing protein 9) (RNA-binding motif protein 10) (RNA-binding protein S1-1) (S1-1)
Protein function Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May be involved in post-transcriptional processing, most probably in mRNA splicing (PubMed:18315527). Binds to RNA homopolymers, with a preference for poly(G) and p
PDB 2LXI , 2M2B , 2MXV , 2MXW , 5ZSW , 5ZSY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 131 → 202 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00641 zf-RanBP 214 → 242 Zn-finger in Ran binding protein and others Domain
PF17780 OCRE 568 → 619 OCRE domain Domain
PF01585 G-patch 858 → 902 G-patch domain Family
Sequence 
MEYERRGGRGDRTGRYGATDRSQDDGGENRSRDHDYRDMDYRSYPREYGSQEGKHDYDDS
SEEQSAEDSYEASPGSETQRRRRRRHRHSPTGPPGFPRDGDYRDQDYRTEQGEEEEEEED
EEEEEKASNIVMLRMLPQAATEDDIRGQLQSHGVQAREVRLMRNKSSGQSRGFAFVEFSH
LQDATRWMEANQHSLNILGQKVSMHYSDPKPKINEDWLCNKCGVQNFKRREKCFKCGVPK
SEAEQKLPLGTRLDQQTLPLGGRELSQGLLPLPQPYQAQGVLASQALSQGSEPSSENAND
TIILRNLNPHSTMDSILGALAPYAVLSSSNVRVIKDKQTQLNRGFAFIQLSTIVEAAQLL
QILQALHPPLTIDGKTINVEFAKGSKRDMASNEGSRISAASVASTAIAAAQWAISQASQG
GEGTWATSEEPPVDYSYYQQDEGYGNSQGTESSLYAHGYLKGTKGPGITGTKGDPTGAGP
EASLEPGADSVSMQAFSRAQPGAAPGIYQQSAEASSSQGTAANSQSYTIMSPAVLKSELQ
SPTHPSSALPPATSPTAQESYSQYPVPDVSTYQYDETSGYYYDPQTGLYYDPNSQYYYNA
QSQQYLYWDGERRTYVPALEQSADGHKETGAPSKEGKEKKEKHKTKTAQQIAKDMERWAR
SLNKQKENFKNSFQPISSLRDDERRESATADAGYAILEKKGALAERQHTSMDLPKLASDD
RPSPPRGLVAAYSGESDSEEEQERGGPEREEKLTDWQKLACLLCRRQFPSKEALIRHQQL
SGLHKQNLEIHRRAHLSENELEALEKNDMEQMKYRDRAAERREKYGIPEPPEPKRRKYGG
ISTASVDFEQPTRDGLGSDNIGSRMLQAMGWKEGSGLGRKKQGIVTPIEAQTRVRGSGLG
ARGSSYGVTSTESYKETLHKTMVTRFNEAQ
Sequence length 930
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DW28
Protein name Ribosome biogenesis inhibitor MINAS-60 (MINAS-60)
Protein function Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus.
Family and domains
Sequence 
MEYERRGGRGDRTGRYGATDRSQDDGGENRSRDHDYRDMDYRSYPREYGSQEGKHDYDDS
SEEQSAEDSYEASPGSETQRRRRRRHRHSPTGPPGFPRDGDYRDQDYRTEQGEEEEEEED
EEEEEKASNIVMLRMLPQAATEDDIRGQLQSHGVQAREVRLMRNKSSGQSRGFAFVEFSH
LQDATRWMEANQHSLNILGQKVSMHYSDPKPKINEDWLCNKCGVQNFKRREKCFKCGVPK
SEAEQKLPLGTRLDQQTLPLGGRELSQGLLPLPQPYQAQGVLASQALSQGSEPSSENAND
TIILRNLNPHSTMDSILGALAPYAVLSSSNVRVIKDKQTQLNRGFAFIQLSTIVEAAQLL
QILQALHPPLTIDGKTINVEFAKGSKRDMASNEGSRISAASVASTAIAAAQWAISQASQG
GEGTWATSEEPPVDYSYYQQDEGYGNSQGTESSLYAHGYLKGTKGPGITGTKGDPTGAGP
EASLEPGADSVSMQAFSRAQPGAAPGIYQQSAEASSSQGTAANSQSYTIMSPAVLKSELQ
SPTHPSSALPPATSPTAQESYSQYPVPDVSTYQYDETSGYYYDPQTGLYYDPNSQYYYNA
QSQQYLYWDGERRTYVPALEQSADGHKETGAPSKEGKEKKEKHKTKTAQQIAKDMERWAR
SLNKQKENFKNSFQPISSLRDDERRESATADAGYAILEKKGALAERQHTSMDLPKLASDD
RPSPPRGLVAAYSGESDSEEEQERGGPEREEKLTDWQKLACLLCRRQFPSKEALIRHQQL
SGLHKQNLEIHRRAHLSENELEALEKNDMEQMKYRDRAAERREKYGIPEPPEPKRRKYGG
ISTASVDFEQPTRDGLGSDNIGSRMLQAMGWKEGSGLGRKKQGIVTPIEAQTRVRGSGLG
ARGSSYGVTSTESYKETLHKTMVTRFNEAQ
Sequence length 930
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of urinary bladder Likely pathogenic rs2147220533 RCV005932762
Nephroblastoma Pathogenic rs1131691421 RCV006254074
Neurodevelopmental delay Pathogenic rs1556772860 RCV002274404
Nonpapillary renal cell carcinoma Likely pathogenic; Pathogenic rs2147220533, rs1602582334 RCV005932763
RCV005906932
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hearing impairment Conflicting classifications of pathogenicity rs782440714 RCV005626843
Hepatocellular carcinoma Uncertain significance rs138358884 RCV005911090
Intellectual disability Benign; Likely benign rs782007244 RCV001252604
Malignant tumor of esophagus Likely benign rs12008422 RCV005916055
Show/Hide Text Mining Associations (40)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 22980975, 25079552, 28091594, 28586478, 31699841, 33064970, 38032932
Adenocarcinoma of Lung Stimulate 30483773
Autistic Disorder Associate 36944446
Breast Neoplasms Associate 18820371
Carcinogenesis Associate 31820547, 38032932
Carcinoma Hepatocellular Associate 32572914
Carcinoma Non Small Cell Lung Associate 33407425, 33629637
Carcinoma Pancreatic Ductal Associate 25855536
Carcinoma Renal Cell Associate 28296677, 32251007, 33854184, 35231161
Clubfoot Associate 24259342, 28577551, 36944446