RNPC3 (RNA binding region (RNP1, RRM) containing 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55599
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding region (RNP1, RRM) containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNPC3
Synonyms (NCBI Gene) Gene synonyms aliases
CPHD7, IGHD5, RBM40, RNP, SNRNP65
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs370930012 C>A Pathogenic Missense variant, coding sequence variant
rs918108896 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT026449 hsa-miR-192-5p Microarray 19074876
MIRT1314335 hsa-miR-1197 CLIP-seq
MIRT1314336 hsa-miR-1252 CLIP-seq
MIRT1314337 hsa-miR-4462 CLIP-seq
MIRT1314338 hsa-miR-4635 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0005634 Component Nucleus IDA 18559850
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618016 18666 ENSG00000185946
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96LT9
Protein name RNA-binding region-containing protein 3 (RNA-binding motif protein 40) (RNA-binding protein 40) (U11/U12 small nuclear ribonucleoprotein 65 kDa protein) (U11/U12 snRNP 65 kDa protein) (U11/U12-65K)
Protein function Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA. {ECO:00
PDB 3EGN , 5OBN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 29 → 96 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 422 → 497 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas and kidney. Detected at lower levels in heart, brain, placenta, lung, liver, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. {ECO:0000269|PubMed:14974681}.
Sequence 
MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKEDLLKYFGAQSVRVLSD
KGRLKHTAFATFPNEKAAIKALTRLHQLKLLGHTLVVEFAKEQDRVHSPCPTSGSEKKKR
SDDPVEDDKEKKELGYLTVENGIAPNHGLTFPLNSCLKYMYPPPSSTILANIVNALASVP
KFYVQVLHLMNKMNLPTPFGPITARPPMYEDYMPLHAPLPPTSPQPPEEPPLPDEDEELS
SEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQRHVRKKRKIKDMLNTPLCPSHSSL
HPVLLPSDVFDQPQPVGNKRIEFHISTDMPAAFKKDLEKEQNCEEKNHDLPATEVDASNI
GFGKIFPKPNLDITEEIKEDSDEMPSECISRRELEKGRISREEMETLSVFRSYEPGEPNC
RIYVKNLAKHVQEKDLKYIFGRYVDFSSETQRIMFDIRLMKEGRMKGQAFIGLPNEKAAA
KALKEANGYVLFGKPMVVQFARSARPKQDPKEGKRKC
Sequence length 517
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Minor Pathway
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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 Pathways 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
Isolated Growth Hormone Deficiency Isolated growth hormone deficiency, type 5 rs370930012, rs918108896 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Serum docosahexaenoic fatty acid concentration in metabolic syndrome, Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32087603
Alzheimer Disease Associate 20194618, 24023061, 24773620
Amyotrophic Lateral Sclerosis Associate 26124092, 32189459
Amyotrophic lateral sclerosis 1 Associate 32189459
Aphasia Associate 32462814
Arthritis Rheumatoid Stimulate 37131295
Autoimmune Diseases Associate 16301677
Cataract Associate 32462814, 37463572
Cataract alopecia sclerodactyly Stimulate 18260175
Combined Pituitary Hormone Deficiency Associate 37463572