• Gene id: 90141

Gene Summary

• Gene Symbol: EFCAB11   Gene   UCSC   Ensembl
• Aliases: C14orf143
• Gene name: EF-hand calcium binding domain 11
• Alternate names: EF-hand calcium-binding domain-containing protein 11, EF-hand domain-containing protein C14orf143,
• Gene location: 14q32.11 (89954776: 89794668)     Exons: 9     NC_000014.9
• OMIM: 0

Protein Summary

• Protein general information: Q9BUY7  
  • Name: EF hand calcium binding domain containing protein 11
  • Length: 163  
  • Mass: 19225
• Sequence:

  MFFSEARARSRTWEASPSEHRKWVEVFKACDEDHKGYLSREDFKTAVVMLFGYKPSKIEVDSVMSSINPNTSGIL
  LEGFLNIVRKKKEAQRYRNEVRHIFTAFDTYYRGFLTLEDFKKAFRQVAPKLPERTVLEVFREVDRDSDGHVSFR
  DFEYALNYGQKEA

• Structural information:
  • Protein Domains: (18..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (91..12-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (127..16-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000326267
• Other Databases: GeneCards:  EFCAB11  Malacards:  EFCAB11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030234	enzyme regulator activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0019722	calcium-mediated signaling	IBA	biological process
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray