• Gene id: 55280

Gene Summary

• Gene Symbol: CWF19L1   Gene   UCSC   Ensembl
• Aliases: C19L1, SCAR17, hDrn1
• Gene name: CWF19 like cell cycle control factor 1
• Alternate names: CWF19-like protein 1, CWF19 like 1, cell cycle control, CWF19-like 1 cell cycle control, human Dbr1 associated ribonuclease 1,
• Gene location: 10q24.31 (100267637: 100232297)     Exons: 14     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided b
• OMIM: 616120

Protein Summary

• Protein general information: Q69YN2  
  • Name: CWF19 like protein 1 (C19L1)
  • Length: 538  
  • Mass: 60619
  • Tissue specificity: Expressed in many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level). {ECO
• Sequence:

  MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNFFGSTQDAEWEEYKTGIKKAPIQTYVLGANNQ
  ETVKYFQDADGCELAENITYLGRKGIFTGSSGLQIVYLSGTESLNEPVPGYSFSPKDVSSLRMMLCTTSQFKGVD
  ILLTSPWPKCVGNFGNSSGEVDTKKCGSALVSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQHATRFIA
  LANVGNPEKKKYLYAFSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIGKQILAPVEESACQFFFDLNEKQGR
  KRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLASPEVEKHLVVNIGTHCYLALAKGGLSDDHVLILPIGHYQSVV
  ELSAEVVEEVEKYKATLRRFFKSRGKWCVVFERNYKSHHLQLQVIPVPISCSTTDDIKDAFITQAQEQQIELLEI
  PEHSDIKQIAQPGAAYFYVELDTGEKLFHRIKKNFPLQFGREVLASEAILNVPDKSDWRQCQISKEDEETLARRF
  RKDFEPYDFTLDD

• Structural information:
  • Interpro: IPR040194  IPR006768  IPR006767  IPR036265  
  • STRING: ENSP00000326411
• Other Databases: GeneCards:  CWF19L1  Malacards:  CWF19L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0061632	RNA lariat debranching enzyme activator activity	IBA	molecular function
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray