• Gene id: 63926

Gene Summary

• Gene Symbol: ANKEF1   Gene   UCSC   Ensembl
• Aliases: ANKRD5
• Gene name: ankyrin repeat and EF-hand domain containing 1
• Alternate names: ankyrin repeat and EF-hand domain-containing protein 1, ankyrin repeat domain-containing protein 5,
• Gene location: 20p12.2 (7043000: 7040848)     Exons: 1     NC_000004.12

Protein Summary

• Protein general information: Q9NU02  
  • Name: Ankyrin repeat and EF hand domain containing protein 1 (Ankyrin repeat domain containing protein 5)
  • Length: 776  
  • Mass: 86664
• Sequence:

  MALADKRLENLQIYKVLQCVRNKDKKQIEKLTKLGYPELINYTEPINGLSALHLASVSNDIDMVSFLLDLGAHPD
  VQDRMGCTPTMRAAELGHELSMEILAKAKADMTIVDNEGKGVLFYCILPTKRHYRCALIALEHGADVNNSTYEGK
  PIFLRACEDAHDVKDVCLTFLEKGANPNAINSSTGRTALMEASREGVVEIVRGILERGGEVNAFDNDRHHAAHFA
  AKGGFFDILKLLFAYNGDVGLISINGNTPLHYAAMGGFADCCKYIAQRGCDLKWKNLDHKTPRAVAKEGGFKAAS
  KEIRRAERIANKLARPGAKNPNPLWALRLHDWSVEREAFLREAFAVLDRGDGSISKNDFVMVLEERQDYASSEQL
  AAIAHLHEKTRGGGVNINEFFKGTRYLNKSFVLGSYGPKKKEKGMGKKGKKGKFVLPLPICVIPEYAFPRRQDGG
  PPYYMIETYKNVTDSSRFNRDHPPEHPIQDDSVWYIDDSEKVFSNINIITKAGDLASLKKAFESGIPVDMKDNYY
  KTPLMTACASGNIDVVKFLLEKGANVNATDNFLWTPLHFACHAGQQDIVELLVESGALIDAASINNSTPLNRAIE
  SCRLDTVKYLLDIGAKFQLENRKGHSAMDVAKAYADYRIIDLIKEKLDNLPKPAENQKLKGKTPPILKTEGPEIK
  KEEELLSSIYGVPTTSEGKKVQKGNVVHLNSLITSGYTKKVDITFIPRRIWSPEATTAELIRKRELRRERFTHEV
  DFDDFMMPFQKNITEKARALEAALKT

• Structural information:
  • Protein Domains: (335..36-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR011992  IPR002048  
  • Prosite: PS50297 PS50088 PS50222
  • STRING: ENSP00000367631
• Other Databases: GeneCards:  ANKEF1  Malacards:  ANKEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R