• Gene id: 91768

Gene Summary

• Gene Symbol: CABLES1   Gene   UCSC   Ensembl
• Aliases: CABL1, CABLES, HsT2563, IK3-1
• Gene name: Cdk5 and Abl enzyme substrate 1
• Alternate names: CDK5 and ABL1 enzyme substrate 1, interactor with CDK3 1,
• Gene location: 18q11.2 (23134563: 23260469)     Exons: 12     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin bin
• OMIM: 609194

Protein Summary

• Protein general information: Q8TDN4  
  • Name: CDK5 and ABL1 enzyme substrate 1 (Interactor with CDK3 1) (Ik3 1)
  • Length: 633  
  • Mass: 67599
  • Tissue specificity: Expressed in breast, pancreas, colon, head and neck (at protein level). Strongly decreased in more than half of cases of atypical endometrial hyperplasia and in more than 90% of endometrial cancers. {ECO
• Sequence:

  MAAAAAAATTAACSSGSAGTDAAGASGLQQPPPQPQPQPAAAAPAQPPPEPPRKPRMDPRRRQAALSFLTNISLD
  GRLPPQDAEWGGGEEGGAAKPGAGGACGARTRFSLLAAAERGGCIALAAPGTPAAGLAAGSGPCLPQPSSLPPLI
  PGGHATVSGPGVARGFASPLGAGRASGEQWQPPRPAPLAACAQLQLLDGSGAAGQEELEEDDAFISVQVPAAAFL
  GSGTPGSGSGSRGRLNSFTQGILPIAFSRPTSQNYCSLEQPGQGGSTSAFEQLQRSRRRLISQRSSLETLEDIEE
  NAPLRRCRTLSGSPRPKNFKKIHFIKNMRQHDTRNGRIVLISGRRSFCSIFSVLPYRDSTQVGDLKLDGGRQSTG
  AVSLKEIIGLEGVELGADGKTVSYTQFLLPTNAFGARRNTIDSTSSFSQFRNLSHRSLSIGRASGTQGSLDTGSD
  LGDFMDYDPNLLDDPQWPCGKHKRVLIFPSYMTTVIDYVKPSDLKKDMNETFKEKFPHIKLTLSKIRSLKREMRK
  LAQEDCGLEEPTVAMAFVYFEKLALKGKLNKQNRKLCAGACVLLAAKIGSDLKKHEVKHLIDKLEEKFRLNRREL
  IAFEFPVLVALEFALHLPEHEVMPHYRRLVQSS

• Structural information:
  • Interpro: IPR012388  IPR013763  IPR036915  IPR006671  
  • CDD: cd00043
  • STRING: ENSP00000256925
• Other Databases: GeneCards:  CABLES1  Malacards:  CABLES1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005829	cytosol	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq