• Gene id: 55531

Gene Summary

• Gene Symbol: ELMOD1   Gene   UCSC   Ensembl
• Gene name: ELMO domain containing 1
• Alternate names: ELMO domain-containing protein 1, ELMO/CED-12 domain containing 1,
• Gene location: 11q22.3 (: )     Exons:     
• OMIM: 606377

Protein Summary

• Protein general information: Q8N336  
  • Name: ELMO domain containing protein 1
  • Length: 334  
  • Mass: 39052
• Sequence:

  MKHFLRMLIQVCLYFYCKFLWRCLKFVMRKLTGRCELQRICYNTKPGASRTMKIETSLRDSKSKLLQTSVSVHPD
  AIEKTIEDIMELKKINPDVNPQLGISLQACLLQIVGYRNLIADVEKLRREAYDSDNPQHEEMLLKLWKFLKPNTP
  LESRISKQWCEIGFQGDDPKTDFRGMGLLGLYNLQYFAERDATAAQQVLSDSLHPKCRDITKEEISKFSKAEWEK
  KRMDKAIGYSFAIVGINITDLAYNLLVSGALKTHFYNIAPEAPTLSHFQQTFCYLMHEFHKFWIEEDPMDIMEFN
  RVREKFRKRIIKQLQNPDMALCPHFAASEGLINM

• Structural information:
  • Protein Domains: (133..31-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664"-)
  • Interpro: IPR006816  IPR030722  
  • Prosite: PS51335
  • STRING: ENSP00000265840
• Other Databases: GeneCards:  ELMOD1  Malacards:  ELMOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray