ELMO1 (engulfment and cell motility 1)

Gene

• Entrez ID: 9844
• Gene name: Engulfment and cell motility 1
• Gene symbol: ELMO1
• Synonyms: CED-12, CED12, ELMO-1
• Chromosome: 7
• Chromosome location: 7p14.2-p14.1
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT714044	hsa-miR-21-3p	HITS-CLIP	19536157
MIRT714043	hsa-miR-3591-3p	HITS-CLIP	19536157
MIRT714042	hsa-miR-1323	HITS-CLIP	19536157
MIRT714041	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT714040	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT714039	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT714038	hsa-miR-4267	HITS-CLIP	19536157
MIRT714037	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT727779	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727778	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT714044	hsa-miR-21-3p	HITS-CLIP	19536157
MIRT714043	hsa-miR-3591-3p	HITS-CLIP	19536157
MIRT714042	hsa-miR-1323	HITS-CLIP	19536157
MIRT714041	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT714040	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT714039	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT714038	hsa-miR-4267	HITS-CLIP	19536157
MIRT714037	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT960811	hsa-miR-1293	CLIP-seq
MIRT960812	hsa-miR-3185	CLIP-seq
MIRT960813	hsa-miR-3646	CLIP-seq
MIRT960814	hsa-miR-3714	CLIP-seq
MIRT960815	hsa-miR-4483	CLIP-seq
MIRT960816	hsa-miR-1202	CLIP-seq
MIRT960817	hsa-miR-1237	CLIP-seq
MIRT960818	hsa-miR-1260	CLIP-seq
MIRT960819	hsa-miR-1260b	CLIP-seq
MIRT960820	hsa-miR-130a	CLIP-seq
MIRT960821	hsa-miR-130b	CLIP-seq
MIRT960822	hsa-miR-148a	CLIP-seq
MIRT960823	hsa-miR-148b	CLIP-seq
MIRT960824	hsa-miR-152	CLIP-seq
MIRT960825	hsa-miR-1825	CLIP-seq
MIRT960826	hsa-miR-185	CLIP-seq
MIRT960827	hsa-miR-188-3p	CLIP-seq
MIRT960828	hsa-miR-1915	CLIP-seq
MIRT960829	hsa-miR-199a-5p	CLIP-seq
MIRT960830	hsa-miR-199b-5p	CLIP-seq
MIRT960831	hsa-miR-19a	CLIP-seq
MIRT960832	hsa-miR-19b	CLIP-seq
MIRT960833	hsa-miR-301a	CLIP-seq
MIRT960834	hsa-miR-301b	CLIP-seq
MIRT960835	hsa-miR-3074-5p	CLIP-seq
MIRT960836	hsa-miR-3156-3p	CLIP-seq
MIRT960837	hsa-miR-3194-5p	CLIP-seq
MIRT960838	hsa-miR-365	CLIP-seq
MIRT960839	hsa-miR-3653	CLIP-seq
MIRT960840	hsa-miR-3658	CLIP-seq
MIRT960841	hsa-miR-3660	CLIP-seq
MIRT960842	hsa-miR-3666	CLIP-seq
MIRT960843	hsa-miR-3913-3p	CLIP-seq
MIRT960844	hsa-miR-3925-3p	CLIP-seq
MIRT960845	hsa-miR-3972	CLIP-seq
MIRT960846	hsa-miR-4256	CLIP-seq
MIRT960847	hsa-miR-4270	CLIP-seq
MIRT960848	hsa-miR-4295	CLIP-seq
MIRT960849	hsa-miR-4306	CLIP-seq
MIRT960850	hsa-miR-4434	CLIP-seq
MIRT960851	hsa-miR-4441	CLIP-seq
MIRT960852	hsa-miR-4516	CLIP-seq
MIRT960853	hsa-miR-4517	CLIP-seq
MIRT960854	hsa-miR-4519	CLIP-seq
MIRT960855	hsa-miR-451b	CLIP-seq
MIRT960856	hsa-miR-4526	CLIP-seq
MIRT960857	hsa-miR-4535	CLIP-seq
MIRT960858	hsa-miR-454	CLIP-seq
MIRT960859	hsa-miR-4644	CLIP-seq
MIRT960860	hsa-miR-4656	CLIP-seq
MIRT960861	hsa-miR-4688	CLIP-seq
MIRT960862	hsa-miR-4726-3p	CLIP-seq
MIRT960863	hsa-miR-4766-5p	CLIP-seq
MIRT960864	hsa-miR-4768-3p	CLIP-seq
MIRT960865	hsa-miR-4776-5p	CLIP-seq
MIRT960866	hsa-miR-489	CLIP-seq
MIRT960867	hsa-miR-548ag	CLIP-seq
MIRT960868	hsa-miR-548ai	CLIP-seq
MIRT960869	hsa-miR-665	CLIP-seq
MIRT960870	hsa-miR-711	CLIP-seq
MIRT960835	hsa-miR-3074-5p	CLIP-seq
MIRT1984759	hsa-miR-3179	CLIP-seq
MIRT1984760	hsa-miR-3685	CLIP-seq
MIRT1984761	hsa-miR-4299	CLIP-seq
MIRT1984762	hsa-miR-548q	CLIP-seq
MIRT1984763	hsa-miR-622	CLIP-seq
MIRT1984760	hsa-miR-3685	CLIP-seq
MIRT1984763	hsa-miR-622	CLIP-seq
MIRT2522924	hsa-miR-1294	CLIP-seq
MIRT2522925	hsa-miR-2115	CLIP-seq
MIRT2522926	hsa-miR-218	CLIP-seq
MIRT2522927	hsa-miR-3692	CLIP-seq
MIRT2522928	hsa-miR-4316	CLIP-seq
MIRT2522929	hsa-miR-4677-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	12134158
GO:0005515	Function	Protein binding	IPI	12029088, 12134158, 12879077, 15247908, 15723800, 18768751, 24567399, 25416956, 28514442, 31515488
GO:0005737	Component	Cytoplasm	IDA	11595183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	11595183
GO:0006911	Process	Phagocytosis, engulfment	IGI	11595183
GO:0006915	Process	Apoptotic process	NAS	11595183
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016477	Process	Cell migration	IEA
GO:0016601	Process	Rac protein signal transduction	IGI	11595183
GO:0017124	Function	SH3 domain binding	IPI	12029088
GO:0030036	Process	Actin cytoskeleton organization	IGI	11595183
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IBA	21873635
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IDA	12134158
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048870	Process	Cell motility	IBA	21873635
GO:0048870	Process	Cell motility	IGI	11595183
GO:0050690	Process	Regulation of defense response to virus by virus	TAS
GO:0050790	Process	Regulation of catalytic activity	IEA

Other IDs

• MIM: 606420
• HGNC: 16286
• e!Ensembl: ENSG00000155849

Protein

• UniProt ID: Q92556
• Protein name: Engulfment and cell motility protein 1 (Protein ced-12 homolog)
• Protein function: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May en
• PDB: 2RQR, 2VSZ, 3A98, 6JPP, 6TGB, 6TGC, 7DPA, 7Y4A, 8JHK, 8XM7, 8ZJ2, 8ZJI, 8ZJJ, 8ZJK, 8ZJL, 8ZJM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11841	DUF3361	115 → 280	Domain of unknown function (DUF3361)	Family
  PF04727	ELMO_CED12	303 → 481	ELMO/CED-12 family	Family
  PF16457	PH_12	548 → 674	Pleckstrin homology domain	Domain

• Sequence:

  MPPPADIVKVAIEWPGAYPKLMEIDQKKPLSAIIKEVCDGWSLANHEYFALQHADSSNFY
  ITEKNRNEIKNGTILRLTTSPAQNAQQLHERIQSSSMDAKLEALKDLASLSRDVTFAQEF
  INLDGISLLTQMVESGTERYQKLQKIMKPCFGDMLSFTLTAFVELMDHGIVSWDTFSVAF
  IKKIASFVNKSAIDISILQRSLAILESMVLNSHDLYQKVAQEITIGQLIPHLQGSDQEIQ
  TYTIAVINALFLKAPDERRQEMANILAQKQLRSIILTHVIRAQRAINNEMAHQLYVLQVL
  TFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLG
  FINHVNPAMDFTQTPPGMLALDNMLYFAKHHQDAYIRIVLENSSREDKHECPFGRSSIEL
  TKMLCEILKVGELPSETCNDFHPMFFTHDRSFEEFFCICIQLLNKTWKEMRATSEDFNKV
  MQVVKEQVMRALTTKPSSLDQFKSKLQNLSYTEILKIRQSERMNQEDFQSRPILELKEKI
  QPEILELIKQQRLNRLVEGTCFRKLNARRRQDKFWYCRLSPNHKVLHYGDLEESPQGEVP
  HDSLQDKLPVADIKAVVTGKDCPHMKEKGALKQNKEVLELAFSILYDSNCQLNFIAPDKH
  EYCIWTDGLNALLGKDMMSDLTRNDLDTLLSMEIKLRLLDLENIQIPDAPPPIPKEPSNY
  DFVYDCN

• Sequence length: 727

Pathways

KEGG:

Chemokine signaling pathway
Efferocytosis
Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection

Reactome:

Nef and signal transduction
Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
FCGR3A-mediated phagocytosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	23535033
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	21383967, 30595370, 30595370
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	30595370
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	23143594, 25574825
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23143596, 26546613

Unknown
Disease name	Disease term	dbSNP ID	References
Biliary cirrhosis	Biliary cirrhosis, Primary biliary cirrhosis		21399635, 22961000, 21399635
Celiac disease	Celiac Disease	rs2305764, rs35218876	22057235, 25920553, 20190752, 26546613, 23143596
Diabetic nephropathy	Diabetic Nephropathy		17942768
Esophageal cancer	Adenocarcinoma Of Esophagus		23525077
Glomerulosclerosis	Nodular glomerulosclerosis		17942768
Immune system diseases	Immune System Diseases		21383967
Stevens-johnson syndrome	Toxic Epidermal Necrolysis, Stevens-Johnson Syndrome, Drug-Induced Stevens Johnson Syndrome, Mycoplasma-Induced Stevens-Johnson Syndrome, Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum		25811541