• Gene id: 57524

Gene Summary

• Gene Symbol: CASKIN1   Gene   UCSC   Ensembl
• Aliases: ANKS5A
• Gene name: CASK interacting protein 1
• Alternate names: caskin-1,
• Gene location: 16p13.3 (2196604: 2177179)     Exons: 20     NC_000016.10
• OMIM: 602004

Protein Summary

• Protein general information: Q8WXD9  
  • Name: Caskin 1 (CASK interacting protein 1)
  • Length: 1431  
  • Mass: 149814
• Sequence:

  MGKEQELVQAVKAEDVGTAQRLLQRPRPGKAKLLGSTKKINVNFQDPDGFSALHHAALNGNTELISLLLEAQAAV
  DIKDNKGMRPLHYAAWQGRKEPMKLVLKAGSAVNIPSDEGHIPLHLAAQHGHYDVSEMLLQHQSNPCMVDNSGKT
  PLDLACEFGRVGVVQLLLSSNMCAALLEPRPGDATDPNGTSPLHLAAKNGHIDIIRLLLQAGIDINRQTKSGTAL
  HEAALCGKTEVVRLLLDSGINAHVRNTYSQTALDIVHQFTTSQASREIKQLLREASAALQVRATKDYCNNYDLTS
  LNVKAGDIITVLEQHPDGRWKGCIHDNRTGNDRVGYFPSSLGEAIVKRAGSRAGTEPSLPQGSSSSGPSAPPEEI
  WVLRKPFAGGDRSGSISGMAGGRGSGGHALHAGSEGVKLLATVLSQKSVSESGPGDSPAKPPEGSAGVARSQPPV
  AHAGQVYGEQPPKKLEPASEGKSSEAVSQWLTAFQLQLYAPNFISAGYDLPTISRMTPEDLTAIGVTKPGHRKKI
  AAEISGLSIPDWLPEHKPANLAVWLSMIGLAQYYKVLVDNGYENIDFITDITWEDLQEIGITKLGHQKKLMLAVR
  KLAELQKAEYAKYEGGPLRRKAPQSLEVMAIESPPPPEPTPADCQSPKMTTFQDSELSDELQAAMTGPAEVGPTT
  EKPSSHLPPTPRATTRQDSSLGGRARHMSSSQELLGDGPPGPSSPMSRSQEYLLDEGPAPGTPPREARPGRHGHS
  IKRASVPPVPGKPRQVLPPGTSHFTPPQTPTKTRPGSPQALGGPHGPAPATAKVKPTPQLLPPTERPMSPRSLPQ
  SPTHRGFAYVLPQPVEGEVGPAAPGPAPPPVPTAVPTLCLPPEADAEPGRPKKRAHSLNRYAASDSEPERDELLV
  PAAAGPYATVQRRVGRSHSVRAPAGADKNVNRSQSFAVRPRKKGPPPPPPKRSSSALASANLADEPVPDAEPEDG
  LLGVRAQCRRASDLAGSVDTGSAGSVKSIAAMLELSSIGGGGRAARRPPEGHPTPRPASPEPGRVATVLASVKHK
  EAIGPGGEVVNRRRTLSGPVTGLLATARRGPGESADPGPFVEDGTGRQRPRGPSKGEAGVEGPPLAKVEASATLK
  RRIRAKQNQQENVKFILTESDTVKRRPKAKEREAGPEPPPPLSVYHNGTGTVRRRPASEQAGPPELPPPPPPAEP
  PPTDLAHLPPLPPPEGEARKPAKPPVSPKPVLTQPVPKLQGSPTPTSKKVPLPGPGSPEVKRAHGTPPPVSPKPP
  PPPTAPKPVKAVAGLPSGSAGPSPAPSPARQPPAALAKPPGTPPSLGASPAKPPSPGAPALHVPAKPPRAAAAAA
  AAAAAPPAPPEGASPGDSARQKLEETSACLAAALQAVEEKIRQEDAQGPRDSAAEKSTGSILDDIGSMFDDLADQ
  LDAMLE

• Structural information:
  • Protein Domains: (281..34-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (472..53-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (541..60-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR027013  IPR032232   IPR035497  IPR035498  IPR035495  IPR032117  IPR001660  IPR013761  IPR036028  IPR001452  
  • Prosite: PS50297 PS50088 PS50105 PS50002
  • CDD: cd09497 cd09498 cd12062
  • PDB: 3SEI 3SEN
  • PDBsum: 3SEI 3SEN
  • DIP: 34890
  • STRING: ENSP00000345436
• Other Databases: GeneCards:  CASKIN1  Malacards:  CASKIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0007165	signal transduction	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq