RNF113A (ring finger protein 113A)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7737
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 113A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF113A
Synonyms (NCBI Gene) Gene synonyms aliases
Cwc24, RNF113, TTD5, ZNF183
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez Gene.
This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT045195 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IDA 29360106
GO:0005515 Function Protein binding IPI 22365833, 28978524
GO:0005634 Component Nucleus IDA 29360106
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300951 12974 ENSG00000125352
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O15541
Protein name E3 ubiquitin-protein ligase RNF113A (EC 2.3.2.27) (Cwc24 homolog) (RING finger protein 113A) (Zinc finger protein 183)
Protein function Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106, PubMed:29361316). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). E3 ubiquitin-protein ligase that ca
PDB 5Z56 , 5Z58 , 6FF4 , 6FF7 , 7DVQ , 7QTT , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00642 zf-CCCH 197 → 223 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF13920 zf-C3HC4_3 259 → 306 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9224902}.
Sequence 
MAEQLSPGKAVDQVCTFLFKKPGRKGAAGRRKRPACDPEPGESGSSSDEGCTVVRPEKKR
VTHNPMIQKTRDSGKQKAAYGDLSSEEEEENEPESLGVVYKSTRSAKPVGPEDMGATAVY
ELDTEKERDAQAIFERSQKIQEELRGKEDDKIYRGINNYQKYMKPKDTSMGNASSGMVRK
GPIRAPEHLRATVRWDYQPDICKDYKETGFCGFGDSCKFLHDRSDYKHGWQIERELDEGR
YGVYEDENYEVGSDDEEIPFKCFICRQSFQNPVVTKCRHYFCESCALQHFRTTPRCYVCD
QQTNGVFNPAKELIAKLEKHRATGEGGASDLPEDPDEDAIPIT
Sequence length 343
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene 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
Trichothiodystrophy trichothiodystrophy 5, nonphotosensitive rs794726863, rs2056406264 N/A
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 32081867
Developmental Disabilities Associate 31880405
Dry Eye Syndromes Associate 31880405
Microcephaly Associate 31880405
Myelodysplastic Syndromes Associate 15147372
Orofaciodigital syndrome 11 Associate 31880405
Seizures Associate 31880405
Small Cell Lung Carcinoma Associate 35819319
Trichothiodystrophy Syndromes Associate 30580289, 31880405
Wilms Tumor Associate 35578692