Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56259
Gene name	Catenin beta like 1
Gene symbol	CTNNBL1
Synonyms (NCBI Gene)	C20orf33IMD99NAPP14LPP8304dJ633O20.1
Chromosome	20
Chromosome location	20q11.23
Summary	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

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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
MIRT036306	hsa-miR-1229-3p	CLASH	23622248
MIRT639456	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639455	hsa-miR-6872-3p	HITS-CLIP	23824327
MIRT639454	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639453	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT639452	hsa-miR-4794	HITS-CLIP	23824327
MIRT639451	hsa-miR-664a-5p	HITS-CLIP	23824327
MIRT639450	hsa-miR-1254	HITS-CLIP	23824327
MIRT639449	hsa-miR-3116	HITS-CLIP	23824327
MIRT639448	hsa-miR-661	HITS-CLIP	23824327
MIRT639447	hsa-miR-4775	HITS-CLIP	23824327
MIRT639446	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT639445	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT639444	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT639443	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT639456	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT639455	hsa-miR-6872-3p	HITS-CLIP	23824327
MIRT639454	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT639453	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT639452	hsa-miR-4794	HITS-CLIP	23824327
MIRT639451	hsa-miR-664a-5p	HITS-CLIP	23824327
MIRT639450	hsa-miR-1254	HITS-CLIP	23824327
MIRT639449	hsa-miR-3116	HITS-CLIP	23824327
MIRT639448	hsa-miR-661	HITS-CLIP	23824327
MIRT639447	hsa-miR-4775	HITS-CLIP	23824327
MIRT639446	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT639445	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT639444	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT639443	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT915042	hsa-miR-1322	CLIP-seq
MIRT915043	hsa-miR-18a	CLIP-seq
MIRT915044	hsa-miR-18b	CLIP-seq
MIRT915045	hsa-miR-3918	CLIP-seq
MIRT915046	hsa-miR-4735-3p	CLIP-seq
MIRT915047	hsa-miR-4761-5p	CLIP-seq
MIRT1971438	hsa-miR-4797-5p	CLIP-seq
MIRT915042	hsa-miR-1322	CLIP-seq
MIRT2510207	hsa-miR-1343	CLIP-seq
MIRT2510208	hsa-miR-3192	CLIP-seq
MIRT2510209	hsa-miR-3689a-3p	CLIP-seq
MIRT2510210	hsa-miR-3689c	CLIP-seq
MIRT915045	hsa-miR-3918	CLIP-seq
MIRT2510211	hsa-miR-4728-5p	CLIP-seq
MIRT915042	hsa-miR-1322	CLIP-seq
MIRT2510207	hsa-miR-1343	CLIP-seq
MIRT2510208	hsa-miR-3192	CLIP-seq
MIRT2510209	hsa-miR-3689a-3p	CLIP-seq
MIRT2510210	hsa-miR-3689c	CLIP-seq
MIRT2510211	hsa-miR-4728-5p	CLIP-seq

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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
GO:0005515	Function	Protein binding	IPI	18722174, 20176811, 21385873, 22365833, 24269683, 25416956, 29892012, 31515488, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	12659813, 18722174, 20176811
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IDA	20176811
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016445	Process	Somatic diversification of immunoglobulins	IMP	18722174
GO:0019899	Function	Enzyme binding	IPI	18722174
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12659813

MIM	HGNC	e!Ensembl
611537	15879	ENSG00000132792

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

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	no classifications from unflagged records	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Blindness	Associate	19463995	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Inhibit	31664177	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fever	Associate	12227927	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Associate	19463995	★★★★★ ★☆☆☆☆ Found in Text Mining only
HIV Infections	Inhibit	35294870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	12227927	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Inhibit	24120997	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	18325910	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	24120997	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Inhibit	24120997	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Associate	32661233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tay Sachs Disease AB Variant	Inhibit	31664177	★★★★★ ★☆☆☆☆ Found in Text Mining only

CTNNBL1 (catenin beta like 1)