CTNNBL1 (catenin beta like 1)

Gene

• Entrez ID: 56259
• Gene name: Catenin beta like 1
• Gene symbol: CTNNBL1
• Synonyms (NCBI Gene): C20orf33, IMD99, NAP, P14L, PP8304, dJ633O20.1
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 611537
• HGNC: 15879
• e!Ensembl: ENSG00000132792

Protein

• 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

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30417779		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	17478890		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26553741		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26553741		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28608279		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29602862		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30664622		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	19463995	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30214604		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28501461		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29288684		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19082443		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28052034		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28436035, 30374973		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30374973		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	18671823		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	19463995	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26553741, 31371714		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28863272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30214604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28501461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	18264096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31018022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19452583		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12383514		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12227927	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24120997	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23817216		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30987727		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	23817216		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18325910, 19228371, 19245693		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18325910	Associate	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	19245693		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	19148501		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28501461		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24120997	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27866262		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29370942		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30417779		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	30865715		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31018022		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26553741		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19452583		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	27910888, 30865715		★☆☆☆☆ Found in Text Mining only