• Gene id: 9844

Gene Summary

• Gene Symbol: ELMO1   Gene   UCSC   Ensembl
• Aliases: CED-12, CED12, ELMO-1
• Gene name: engulfment and cell motility 1
• Alternate names: engulfment and cell motility protein 1, ced-12 homolog 1,
• Gene location: 7p14.2-p14.1 (37449325: 36852905)     Exons: 29     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may
• OMIM: 102595

Protein Summary

• Protein general information: Q92556  
  • Name: Engulfment and cell motility protein 1 (Protein ced 12 homolog)
  • Length: 727  
  • Mass: 83829
  • Tissue specificity: Widely expressed, with a higher expression in the spleen and placenta.
• Sequence:

  MPPPADIVKVAIEWPGAYPKLMEIDQKKPLSAIIKEVCDGWSLANHEYFALQHADSSNFYITEKNRNEIKNGTIL
  RLTTSPAQNAQQLHERIQSSSMDAKLEALKDLASLSRDVTFAQEFINLDGISLLTQMVESGTERYQKLQKIMKPC
  FGDMLSFTLTAFVELMDHGIVSWDTFSVAFIKKIASFVNKSAIDISILQRSLAILESMVLNSHDLYQKVAQEITI
  GQLIPHLQGSDQEIQTYTIAVINALFLKAPDERRQEMANILAQKQLRSIILTHVIRAQRAINNEMAHQLYVLQVL
  TFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFINHVNPAMDFTQTP
  PGMLALDNMLYFAKHHQDAYIRIVLENSSREDKHECPFGRSSIELTKMLCEILKVGELPSETCNDFHPMFFTHDR
  SFEEFFCICIQLLNKTWKEMRATSEDFNKVMQVVKEQVMRALTTKPSSLDQFKSKLQNLSYTEILKIRQSERMNQ
  EDFQSRPILELKEKIQPEILELIKQQRLNRLVEGTCFRKLNARRRQDKFWYCRLSPNHKVLHYGDLEESPQGEVP
  HDSLQDKLPVADIKAVVTGKDCPHMKEKGALKQNKEVLELAFSILYDSNCQLNFIAPDKHEYCIWTDGLNALLGK
  DMMSDLTRNDLDTLLSMEIKLRLLDLENIQIPDAPPPIPKEPSNYDFVYDCN

• Structural information:
  • Protein Domains: (319..49-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664-)
    (555..67-)
    (/note="PH"-)
  • Interpro: IPR011989  IPR016024  IPR024574  IPR030715  IPR006816   IPR011993  IPR001849  
  • Prosite: PS51335
  • PDB: 2RQR 2VSZ 3A98
  • PDBsum: 2RQR 2VSZ 3A98
  • DIP: 31095
  • STRING: ENSP00000312185
• Other Databases: GeneCards:  ELMO1  Malacards:  ELMO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048870	cell motility	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0032045	guanyl-nucleotide exchange factor complex	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006909	phagocytosis	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0032045	guanyl-nucleotide exchange factor complex	IDA	cellular component
GO:0032045	guanyl-nucleotide exchange factor complex	IEA	cellular component
GO:0030029	actin filament-based process	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0006911	phagocytosis, engulfment	IGI	biological process
GO:0030036	actin cytoskeleton organization	IGI	biological process
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0016601	Rac protein signal transduction	IGI	biological process
GO:0048870	cell motility	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04062	Chemokine signaling pathway
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray