• Gene id: 22794

Gene Summary

• Gene Symbol: CASC3   Gene   UCSC   Ensembl
• Aliases: BTZ, MLN51
• Gene name: CASC3 exon junction complex subunit
• Alternate names: protein CASC3, MLN 51, barentsz, cancer susceptibility 3, cancer susceptibility candidate 3, cancer susceptibility candidate gene 3 protein, metastatic lymph node 51, metastatic lymph node gene 51 protein, protein barentsz,
• Gene location: 17q21.1 (40140505: 40172171)     Exons: 14     NC_000017.11
• Gene summary(Entrez): The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts w
• OMIM: 606504

Protein Summary

• Protein general information: O15234  
  • Name: Protein CASC3 (Cancer susceptibility candidate gene 3 protein) (Metastatic lymph node gene 51 protein) (MLN 51) (Protein barentsz) (Btz)
  • Length: 703  
  • Mass: 76278
  • Tissue specificity: Widely expressed. Overexpressed in breast cancers and metastasis, as well as in gastric cancers. {ECO
• Sequence:

  MADRRRQRASQDTEDEESGASGSDSGGSPLRGGGSCSGSAGGGGSGSLPSQRGGRTGALHLRRVESGGAKSAEES
  ECESEDGIEGDAVLSDYESAEDSEGEEGEYSEEENSKVELKSEANDAVNSSTKEEKGEEKPDTKSTVTGERQSGD
  GQESTEPVENKVGKKGPKHLDDDEDRKNPAYIPRKGLFFEHDLRGQTQEEEVRPKGRQRKLWKDEGRWEHDKFRE
  DEQAPKSRQELIALYGYDIRSAHNPDDIKPRRIRKPRYGSPPQRDPNWNGERLNKSHRHQGLGGTLPPRTFINRN
  AAGTGRMSAPRNYSRSGGFKEGRAGFRPVEAGGQHGGRSGETVKHEISYRSRRLEQTSVRDPSPEADAPVLGSPE
  KEEAASEPPAAAPDAAPPPPDRPIEKKSYSRARRTRTKVGDAVKLAEEVPPPPEGLIPAPPVPETTPTPPTKTGT
  WEAPVDSSTSGLEQDVAQLNIAEQNWSPGQPSFLQPRELRGMPNHIHMGAGPPPQFNRMEEMGVQGGRAKRYSSQ
  RQRPVPEPPAPPVHISIMEGHYYDPLQFQGPIYTHGDSPAPLPPQGMLVQPGMNLPHPGLHPHQTPAPLPNPGLY
  PPPVSMSPGQPPPQQLLAPTYFSAPGVMNFGNPSYPYAPGALPPPPPPHLYPNTQAPSQVYGGVTYYNPAQQQVQ
  PKPSPPRRTPQPVTIKPPPPEVVSRGSS

• Structural information:
  • Interpro: IPR018545  IPR028544  
  • PDB: 2HYI 2J0Q 2J0S 2J0U 2XB2 3EX7 5XJC 5YZG 6ICZ
  • PDBsum: 2HYI 2J0Q 2J0S 2J0U 2XB2 3EX7 5XJC 5YZG 6ICZ
  • DIP: 33288
  • STRING: ENSP00000264645
• Other Databases: GeneCards:  CASC3  Malacards:  CASC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035145	exon-exon junction complex	IBA	cellular component
GO:0035145	exon-exon junction complex	IDA	cellular component
GO:0071006	U2-type catalytic step 1 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0035145	exon-exon junction complex	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
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: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:0005515	protein binding	IPI	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0008298	intracellular mRNA localization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)