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ELMO1 engulfment and cell motility 1 [ Homo sapiens (human) ]

Gene ID: 9844, updated on 1-Jun-2020

Summary

Official Symbol
ELMO1provided by HGNC
Official Full Name
engulfment and cell motility 1provided by HGNC
Primary source
HGNC:HGNC:16286
See related
Ensembl:ENSG00000155849 MIM:606420
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-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 promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Broad expression in brain (RPKM 17.7), thyroid (RPKM 16.1) and 22 other tissues See more
Orthologs

Genomic context

See ELMO1 in Genome Data Viewer
Location:
7p14.2-p14.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (36852906..37449326, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36892511..37488895, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyloxyacyl hydrolase Neighboring gene AOAH intronic transcript 1 Neighboring gene uncharacterized LOC105375235 Neighboring gene nucleophosmin 1 pseudogene 18 Neighboring gene microRNA 1200 Neighboring gene ELMO1 antisense RNA 1 Neighboring gene ribosomal protein S17 pseudogene 13 Neighboring gene origin-enriched sequence 8 Neighboring gene RNA, U6 small nuclear 565, pseudogene Neighboring gene ribosomal protein S10 pseudogene 14 Neighboring gene NECAP endocytosis associated 1 pseudogene 1 Neighboring gene G protein-coupled receptor 141

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
NHGRI GWA Catalog
A genome-wide association study of the Protein C anticoagulant pathway.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.
NHGRI GWA Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0281, MGC126406

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
Rac protein signal transduction IGI
Inferred from Genetic Interaction
more info
PubMed 
actin cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
cell migration IEA
Inferred from Electronic Annotation
more info
 
cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell motility IGI
Inferred from Genetic Interaction
more info
PubMed 
phagocytosis, engulfment IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
guanyl-nucleotide exchange factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
engulfment and cell motility protein 1
Names
ced-12 homolog 1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001039459.2NP_001034548.1  engulfment and cell motility protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001034548.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC007349, BC064635, BI600726
    Consensus CDS
    CCDS5450.1
    UniProtKB/Swiss-Prot
    Q92556
    Related
    ENSP00000379355.2, ENST00000396040.6
    Conserved Domains (1) summary
    cd13359
    Location:66195
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
  2. NM_001206480.2NP_001193409.1  engulfment and cell motility protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001193409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC007349, AF398885, AK314349, DA238090, DA312397
    Consensus CDS
    CCDS5449.1
    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Related
    ENSP00000394458.1, ENST00000448602.5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  3. NM_001206482.1NP_001193411.1  engulfment and cell motility protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001193411.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC007349, AK291784
    Consensus CDS
    CCDS5449.1
    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Related
    ENSP00000406952.1, ENST00000442504.5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  4. NM_014800.10NP_055615.8  engulfment and cell motility protein 1 isoform 1

    See identical proteins and their annotated locations for NP_055615.8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 4 and 5 encode the same isoform.
    Source sequence(s)
    AC007349, AC078843, AL136787
    Consensus CDS
    CCDS5449.1
    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Related
    ENSP00000312185.4, ENST00000310758.8
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  5. NM_130442.3NP_569709.1  engulfment and cell motility protein 1 isoform 2

    See identical proteins and their annotated locations for NP_569709.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AC007349, BC077074, DC366992
    UniProtKB/Swiss-Prot
    Q92556
    Related
    ENSP00000379360.3, ENST00000396045.7
    Conserved Domains (1) summary
    cd13359
    Location:66195
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain

RNA

  1. NR_038120.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' exon structure and lacks an alternate internal exon compared to variant 1 and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007349, AK301151, DC366992

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    36852906..37449326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249919.3XP_005249976.1  engulfment and cell motility protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005249976.1

    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  2. XM_011515654.2XP_011513956.1  engulfment and cell motility protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513956.1

    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  3. XM_024447008.1XP_024302776.1  engulfment and cell motility protein 1 isoform X1

    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  4. XM_017012839.1XP_016868328.1  engulfment and cell motility protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)
  5. XM_006715805.1XP_006715868.1  engulfment and cell motility protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715868.1

    UniProtKB/Swiss-Prot
    Q92556
    UniProtKB/TrEMBL
    A4D1X5
    Conserved Domains (3) summary
    cd13359
    Location:546675
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:304476
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115279
    DUF3361; Domain of unknown function (DUF3361)

RNA

  1. XR_001744894.2 RNA Sequence

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