• Gene id: 79767

Gene Summary

• Gene Symbol: ELMO3   Gene   UCSC   Ensembl
• Aliases: CED-12, CED12, ELMO-3
• Gene name: engulfment and cell motility 3
• Alternate names: engulfment and cell motility protein 3, ced-12 homolog 3,
• Gene location: 16q22.1 (67199130: 67204028)     Exons: 20     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact wit
• OMIM: 600609

Protein Summary

• Protein general information: Q96BJ8  
  • Name: Engulfment and cell motility protein 3
  • Length: 720  
  • Mass: 81467
• Sequence:

  MAPPRNVVKIAIKMRDAIPQLIQLDQAKPLAAVLKEVCDAWSLTHSERYALQFADGHRRYITENNRAEIKNGSIL
  CLSTAPDLEAEQLLGGLQSNSPEGRREALRRLVPLASDMIFAREVISRNGLQILGTIIEDGDDLGEVLALSLRAF
  SELMEHGVVSWETLSIPFVRKVVCYVNMNLMDASVPPLALGLLESVTLSSPALGQLVKSEVPLDRLLVHLQVMNQ
  QLQTKAMALLTALLQGASPVERKHMLDYLWQRNLRQFIYKNIIHSAAPMGDEMAHHLYVLQALMLGLLEPRMRTP
  LDPYSQEQREQLQVLRQAAFEVEGESSGAGLSADRRRSLCAREFRKLGFSNSNPAQDLERVPPGLLALDNMLYFS
  RNAPSAYSRFVLENSSREDKHECPFARGSIQLTVLLCELLRVGEPCSETAQDFSPMFFGQDQSFHELFCVGIQLL
  NKTWKEMRATQEDFDKVMQVVREQLARTLALKPTSLELFRTKVNALTYGEVLRLRQTERLHQEGTLAPPILELRE
  KLKPELMGLIRQQRLLRLCEGTLFRKISSRRRQDKLWFCCLSPNHKLLQYGDMEEGASPPTLESLPEQLPVADMR
  ALLTGKDCPHVREKGSGKQNKDLYELAFSISYDRGEEEAYLNFIAPSKREFYLWTDGLSALLGSPMGSEQTRLDL
  EQLLTMETKLRLLELENVPIPERPPPVPPPPTNFNFCYDCSIAEP

• Structural information:
  • Protein Domains: (307..47-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664-)
    (542..66-)
    (/note="PH"-)
  • Interpro: IPR016024  IPR024574  IPR030719  IPR006816  IPR011993   IPR001849  
  • Prosite: PS51335
  • STRING: ENSP00000377566
• Other Databases: GeneCards:  ELMO3  Malacards:  ELMO3

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:0005515	protein binding	IPI	molecular function
GO:0016477	cell migration	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray