• Gene id: 79825

Gene Summary

• Gene Symbol: EFCC1   Gene   UCSC   Ensembl
• Aliases: C3orf73, CCDC48
• Gene name: EF-hand and coiled-coil domain containing 1
• Alternate names: EF-hand and coiled-coil domain-containing protein 1, EF-hand domain-containing protein ENSP00000381169, coiled-coil domain containing 48, coiled-coil domain-containing protein 48,
• Gene location: 3q21.3 (129001303: 129040741)     Exons: 14     NC_000003.12
• OMIM: 618403

Protein Summary

• Protein general information: Q9HA90  
  • Name: EF hand and coiled coil domain containing protein 1 (Coiled coil domain containing protein 48)
  • Length: 598  
  • Mass: 65701
• Sequence:

  MEPVSTGAEAGMEGAGGDPYRRPARRTQWLLSALAHHYGLDRGVENEIVVLATGLDQYLQEVFHHLDCRGAGRLP
  RADFRALCAVLGLRAEGATTAGQAAGDGNSRDVTPGDAAAELATDGDSDTDEEARLALRAEPPELTFRQFHARLC
  GYFGTRAGPRLPRGALSEHIETQIRLRRPRRRRRPPCAPGPDSGPDCERVARLEEENSSLRELVEDLRAALQSSD
  ARCLALQVGLWKSQASTHEMGHGGPEAAVRELRQAQGALAAAEARAGRLRRGQAEVRRRAEEARQVVLRSLHRVR
  ELEALAQQVPGLQRWVRRLEAELQRYRSEDSQLPTPQLANPEPGDKSNEPEDAGTRDPDPTPEGAWQSDSSSGSR
  ALDEVDEQLFRSVEGQAASDEEEVEEERWQEEKKTPAAEAKTLLARLSSCRGRCDDQTAEKLMTYFGHFGGANHA
  HTLGELEACIAMLVEQLRTQGCGGRTLGTSEEEAELQQKVEENEHLRLELQMVETERVRLSLLEEKLVDVLQLLQ
  RLRDLNISKRALGKILLSTLDAFRDPTHEGRPSPAAILDALHQALAACQLLRRQPSAPASAAAALTNPLLVSC

• Structural information:
  • Protein Domains: (54..8-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR031601  IPR002048  
  • Prosite: PS50222
  • STRING: ENSP00000414597
• Other Databases: GeneCards:  EFCC1  Malacards:  EFCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function

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