ELMO3 engulfment and cell motility 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELMO3provided by HGNC
Official Full Name: engulfment and cell motility 3provided by HGNC
Primary source: HGNC:HGNC:17289
See related: Ensembl:ENSG00000102890 MIM:606422; AllianceGenome:HGNC:17289
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CED12; CED-12; ELMO-3
Summary: 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 with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]
Expression: Broad expression in duodenum (RPKM 15.2), skin (RPKM 12.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67199131..67204004)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72993415..72998288)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67233034..67237907)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELMO3 might serve as a clinical prognostic marker of patients with minor salivary gland carcinoma
Title: ELMO3 - a Negative Prognostic Marker in Minor Salivary Gland Carcinoma.
the results indicate that ELMO3 participates in the processes of cell growth, invasion, and migration, and ELMO3 is expected to be a potential diagnostic and prognostic marker for gastric cancer.
Title: Silencing ELMO3 Inhibits the Growth, Invasion, and Metastasis of Gastric Cancer.
the silencing of ELMO3 inhibited cell proliferation, invasion, metastasis, and F-actin polymerization, and induced Gap 1 (G1) phase cell cycle arrest, demonstrating that ELMO3 is involved in the processes of growth, invasion and metastasis of Colorectal Cancer
Title: Knockdown of ELMO3 Suppresses Growth, Invasion and Metastasis of Colorectal Cancer.
The purpose of this study was to asses ELMO3 expression in postoperatively irradiated head and neck squamous cell carcinoma patients.
Title: ELMO3 expression indicates a poor prognosis in head and neck squamous cell carcinoma - a short report.
The over-expression of ELMO3 was a potential diagnostic and prognostic marker for non-small cell lung cancer.
Title: ELMO3 is a novel biomarker for diagnosis and prognosis of non-small cell lung cancer.
The present study reports the first characterization of the ELMO3 promoter and suggests a significant role of CDX2 in the basal transcriptional regulation of the intestine-specific expression of ELMO3, possibly through interaction with SP1.
Title: Control of intestinal promoter activity of the cellular migratory regulator gene ELMO3 by CDX2 and SP1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70934 (e-PCR)
- UniSTS:89353

G20763 (e-PCR)
- UniSTS:82834

A006F26 (e-PCR)
- UniSTS:82835

E2F4_601 (e-PCR)
- UniSTS:277179

E2F4_V13 (e-PCR)
- UniSTS:277179

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: engulfment and cell motility protein 3

Names: ced-12 homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_024712.5 → NP_078988.3 engulfment and cell motility protein 3

Status: REVIEWED

Source sequence(s)

AC040160, BC034410, DA872517

Consensus CDS

CCDS10833.3

UniProtKB/Swiss-Prot

B4DV86, Q96BJ8, Q9H8A5

UniProtKB/TrEMBL

F8W9E7

Related

ENSP00000377566.3, ENST00000393997.8

Conserved Domains (3) summary

cd13359
Location:534 → 663

PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

pfam04727
Location:292 → 463

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:116 → 267

DUF3361; Domain of unknown function (DUF3361)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67199131..67204004

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450447.2 → XP_024306215.1 engulfment and cell motility protein 3 isoform X1

Conserved Domains (3) summary

pfam04727
Location:115 → 286

ELMO_CED12; ELMO/CED-12 family

pfam11841
Location:3 → 90

DUF3361; Domain of unknown function (DUF3361)

cl17171
Location:357 → 486

PH-like; Pleckstrin homology-like domain