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

    Gene ID: 55531, updated on 5-Mar-2024

    Summary

    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 be involved in positive regulation of GTPase activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 21.6), skin (RPKM 11.2) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ELMOD1 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (107591147..107666779)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (107598213..107673917)
    105.20220307 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001130037.2NP_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:119295
      ELMO_CED12; ELMO/CED-12 family
    2. NM_001308018.2NP_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:113292
      ELMO_CED12; ELMO/CED-12 family
    3. NM_018712.4NP_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:119303
      ELMO_CED12; ELMO/CED-12 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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.