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    ELMOD1 ELMO domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55531, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ELMOD1provided by HGNC
    Official Full Name
    ELMO domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25334
    See related
    Ensembl:ENSG00000110675 MIM:615456; AllianceGenome:HGNC:25334
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables GTPase activator activity. Predicted to act upstream of or within cilium assembly and protein transport. Predicted to be active in Golgi apparatus; cilium; and glutamatergic synapse. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 21.6), skin (RPKM 11.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELMOD1 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (107591147..107666779)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (107598213..107673917)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107461873..107537505)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene alkB homolog 8, tRNA methyltransferase Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:107435812-107436330 and GRCh37_chr11:107436331-107436847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5472 Neighboring gene SUCLG2 pseudogene 3 Neighboring gene METTL5 pseudogene 4 Neighboring gene MOB-like protein phocein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:107524845-107525346 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:107578451-107579242 Neighboring gene sarcolipin Neighboring gene sorting nexin 7 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder. Miryounesi M, et al. J Mol Neurosci, 2019 Oct. PMID 31327155
    2. [Association of the ELMO1 gene (snp rs1345365) with development of type 2 diabetes mellitus in the Mexican mestizo population]. Alberto Ramirez-Garcia S, et al. Invest Clin, 2015 Dec. PMID 29938964
    3. Cell adhesion controlled by adhesion G protein-coupled receptor GPR124/ADGRA2 is mediated by a protein complex comprising intersectins and Elmo-Dock. Hernández-Vásquez MN, et al. J Biol Chem, 2017 Jul 21. PMID 28600358, Free PMC Article
    4. Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. Ivanova AA, et al. J Biol Chem, 2014 Apr 18. PMID 24616099, Free PMC Article
    5. ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. Bowzard JB, et al. J Biol Chem, 2007 Jun 15. PMID 17452337

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELMOD1 mutation segregates with intellectual disability and autism spectrum disorder in Iranian family.
      Title: ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder.
    2. Data suggest that GPR124 promotes cell adhesion via interaction with Elmo1-Dock180 and intersectin 1/2; this constitutes a previously unrecognized heteromeric complex that is putatively involved in GPR124-dependent adhesive/angiogenic responses in vascular endothelial cells. (GPR124 = G-protein coupled receptor 124; Elmo1 = ELMO domain-containing protein 1; Dock180 = dedicator of cytokinesis protein 1 180 kDa)
      Title: Cell adhesion controlled by adhesion G protein-coupled receptor GPR124/ADGRA2 is mediated by a protein complex comprising intersectins and Elmo-Dock.
    3. The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity.
      Title: Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • FLJ25337, DKFZp547C176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ELMO domain-containing protein 1
    Names
    ELMO/CED-12 domain containing 1

    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)

    1. NM_001130037.2 → NP_001123509.1  ELMO domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001123509.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AP000889, AP002353
      Consensus CDS
      CCDS44724.1
      UniProtKB/TrEMBL
      B4DM88
      Related
      ENSP00000412257.2, ENST00000443271.2
      Conserved Domains (1) summary
      pfam04727
      Location:119 → 295
      ELMO_CED12; ELMO/CED-12 family

    2. NM_001308018.2 → NP_001294947.1  ELMO domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate exon in the 5' coding region that results in use of a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA450353, AK297351, AK303689, AL359601, AP002353
      Consensus CDS
      CCDS76472.1
      UniProtKB/TrEMBL
      B4DM88, E9PLM8
      Related
      ENSP00000433232.1, ENST00000531234.5
      Conserved Domains (1) summary
      pfam04727
      Location:113 → 292
      ELMO_CED12; ELMO/CED-12 family

    3. NM_018712.4 → NP_061182.3  ELMO domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_061182.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest isoform (1).
      Source sequence(s)
      AP002353, BC028725, DC375486
      Consensus CDS
      CCDS44723.1
      UniProtKB/Swiss-Prot
      B4E167, G5E9S5, Q8N336, Q9NPW3
      UniProtKB/TrEMBL
      B4DM88
      Related
      ENSP00000265840.7, ENST00000265840.12
      Conserved Domains (1) summary
      pfam04727
      Location:119 → 303
      ELMO_CED12; ELMO/CED-12 family

    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

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      107591147..107666779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      107598213..107673917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039772.1: Suppressed sequence

      Description
      NM_001039772.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.

    2. NR_028328.1: Suppressed sequence

      Description
      NR_028328.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N336.3 GenPept UniProtKB/Swiss-Prot:Q8N336

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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