• Gene id: 56259

Gene Summary

• Gene Symbol: CTNNBL1   Gene   UCSC   Ensembl
• Aliases: C20orf33, NAP, P14L, PP8304, dJ633O20.1
• Gene name: catenin beta like 1
• Alternate names: beta-catenin-like protein 1, nuclear associated protein, testis development protein NYD-SP19,
• Gene location: 20q11.23 (37693954: 37872128)     Exons: 19     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 611537

Protein Summary

• Protein general information: Q8WYA6  
  • Name: Beta catenin like protein 1 (Nuclear associated protein) (NAP) (Testis development protein NYD SP19)
  • Length: 563  
  • Mass: 65173
  • Tissue specificity: Widely expressed with highest levels in skeletal muscle, placenta, heart, spleen, testis and thyroid. {ECO
• Sequence:

  MDVGELLSYQPNRGTKRPRDDEEEEQKMRRKQTGTRERGRYREEEMTVVEEADDDKKRLLQIIDRDGEEEEEEEE
  PLDESSVKKMILTFEKRSYKNQELRIKFPDNPEKFMESELDLNDIIQEMHVVATMPDLYHLLVELNAVQSLLGLL
  GHDNTDVSIAVVDLLQELTDIDTLHESEEGAEVLIDALVDGQVVALLVQNLERLDESVKEEADGVHNTLAIVENM
  AEFRPEMCTEGAQQGLLQWLLKRLKAKMPFDANKLYCSEVLAILLQDNDENRELLGELDGIDVLLQQLSVFKRHN
  PSTAEEQEMMENLFDSLCSCLMLSSNRERFLKGEGLQLMNLMLREKKISRSSALKVLDHAMIGPEGTDNCHKFVD
  ILGLRTIFPLFMKSPRKIKKVGTTEKEHEEHVCSILASLLRNLRGQQRTRLLNKFTENDSEKVDRLMELHFKYLG
  AMQVADKKIEGEKHDMVRRGEIIDNDTEEEFYLRRLDAGLFVLQHICYIMAEICNANVPQIRQRVHQILNMRGSS
  IKIVRHIIKEYAENIGDGRSPEFRENEQKRILGLLENF

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR039678  IPR013180  
  • PDB: 4CB8 4CB9 4CBA 4HM9 4HNM 4MFU 4MFV
  • PDBsum: 4CB8 4CB9 4CBA 4HM9 4HNM 4MFU 4MFV
  • STRING: ENSP00000355050
• Other Databases: GeneCards:  CTNNBL1  Malacards:  CTNNBL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000974	Prp19 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0016445	somatic diversification of immunoglobulins	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
morbid obesity	PMID:19245693
colorectal cancer	PMID:21537400
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq