CTNNBL1 (catenin beta like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56259
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin beta like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNNBL1
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf33, IMD99, NAP, P14L, PP8304, dJ633O20.1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nucl
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(54)
miRTarBase ID miRNA Experiments Reference
MIRT020731 hsa-miR-155-5p Proteomics 18668040
MIRT050320 hsa-miR-25-3p CLASH 23622248
MIRT049224 hsa-miR-92a-3p CLASH 23622248
MIRT045603 hsa-miR-149-5p CLASH 23622248
MIRT044639 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome NAS 23742842
GO:0000974 Component Prp19 complex IDA 15175653
GO:0000974 Component Prp19 complex IPI 20176811
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611537 15879 ENSG00000132792
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WYA6
Protein name Beta-catenin-like protein 1 (Nuclear-associated protein) (NAP) (Testis development protein NYD-SP19)
Protein function Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated somatic hypermutation (SHM) and class-switch recombination (CSR), 2 processe
PDB 4CB8 , 4CB9 , 4CBA , 4HM9 , 4HNM , 4MFU , 4MFV , 7ABI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08216 CTNNBL 57 → 162 Catenin-beta-like, Arm-motif containing nuclear Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid. {ECO:0000269|PubMed:12659813}.
Sequence 
MDVGELLSYQPNRGTKRPRDDEEEEQKMRRKQTGTRERGRYREEEMTVVEEADDDKKRLL
QIIDRDGEEEEEEEEPLDESSVKKMILTFEKRSYKNQELRIKFPDNPEKFMESELDLNDI
IQEMHVVATMPDLYHLLVELNAVQSLLGLLGHDNTDVSIAVVDLLQELTDIDTLHESEEG
AEVLIDALVDGQVVALLVQNLERLDESVKEEADGVHNTLAIVENMAEFRPEMCTEGAQQG
LLQWLLKRLKAKMPFDANKLYCSEVLAILLQDNDENRELLGELDGIDVLLQQLSVFKRHN
PSTAEEQEMMENLFDSLCSCLMLSSNRERFLKGEGLQLMNLMLREKKISRSSALKVLDHA
MIGPEGTDNCHKFVDILGLRTIFPLFMKSPRKIKKVGTTEKEHEEHVCSILASLLRNLRG
QQRTRLLNKFTENDSEKVDRLMELHFKYLGAMQVADKKIEGEKHDMVRRGEIIDNDTEEE
FYLRRLDAGLFVLQHICYIMAEICNANVPQIRQRVHQILNMRGSSIKIVRHIIKEYAENI
GDGRSPEFRENEQKRILGLLENF
Sequence length 563
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major 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 miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
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
Breast Cancer BRCA1/2-negative high-risk breast cancer N/A N/A GWAS
Common Variable Immunodeficiency 0 N/A N/A GenCC
Immunodeficiency immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias N/A N/A GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Blindness Associate 19463995
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules Inhibit 31664177
Fever Associate 12227927
Gonadal Dysgenesis Associate 19463995
HIV Infections Inhibit 35294870
Melanoma Associate 12227927
Mitochondrial Diseases Inhibit 24120997
Obesity Associate 18325910
Parkinson Disease Associate 24120997
Renal Insufficiency Inhibit 24120997