RBM10 (RNA binding motif protein 10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8241
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM10
Synonyms (NCBI Gene) Gene synonyms aliases
DXS8237E, GPATC9, GPATCH9, MINAS-60, S1-1, TARPS, ZRANB5
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300080 9896 ENSG00000182872
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 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
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
TARP Syndrome tarp syndrome rs1556778986, rs1602582334, rs1935843757, rs886044715, rs267607000, rs886044718, rs1556770954 N/A
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease 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