• Gene id: 84455

Gene Summary

• Gene Symbol: EFCAB7   Gene   UCSC   Ensembl
• Gene name: EF-hand calcium binding domain 7
• Alternate names: EF-hand calcium-binding domain-containing protein 7,
• Gene location: 1p31.3 (63523320: 63585400)     Exons: 17     NC_000001.11
• OMIM: 617632

Protein Summary

• Protein general information: A8K855  
  • Name: EF hand calcium binding domain containing protein 7
  • Length: 629  
  • Mass: 71981
• Sequence:

  MAISPRSDATFSSQKSTPSESPRTKKFPLTEEEIFYMNCRAAYLTVFKSSLENIISKDQLYLALQHAGRNPSQKT
  INKYWTPQTAKLNFDDFCIILRKEKPTSKAELLKSFKQLDVNDDGCILHTDLYKFLTKRGEKMTREEVNAIINLA
  DVNADGKFDYIKFCKLYMTTNEQCLKTTLEKLEVDSKLMRHQFGNHIEGSPERDPSPVPKPSPKITRKTDPETFL
  NKGDTRSSLLSATRKFKTSVSFTVTMGANGNRNSKLMEPNLIKDWQHMQSKGCFFLEEDGEIISHQYRMQIAQRS
  MVYLTIKPLNLSQVEGKPSPWLSVDTALYILKENESQANLQLVCFTELRNREVFGWTGELGPGIYWLIPSTTGCR
  LRKKIKPVTDEAQLVYRDETGELFLTKEFKSTLSDIFEVIDLDGNGLLSLEEYNFFELRTSGEKCDEDAWAVCRE
  NFDTKRNELTRQGFMDLNLMEANDREGDPCDLWVTLHSMGYNKALELTEACPFVIDIYAEKCKPKIKAVHMEACS
  GQLEKAICKSVLSNGDAKVMDGYENIIVHTYSCDTWITSVIENKSDEKVIIHISNELSKNCINNRGLNIFAVEVG
  PKSTMVCQHVMPLNERQEWIYYCIYSLIS

• Structural information:
  • Protein Domains: (102..13-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (138..17-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (403..43-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000360129
• Other Databases: GeneCards:  EFCAB7  Malacards:  EFCAB7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:1903569	positive regulation of protein localization to ciliary membrane	ISS	biological process
GO:0042307	positive regulation of protein import into nucleus	ISS	biological process
GO:0098797	plasma membrane protein complex	ISS	cellular component
GO:0060170	ciliary membrane	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0060170	ciliary membrane	IEA	cellular component

Diseases

Associated diseases	References
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)