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    ELMOD3 ELMO domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 84173, updated on 17-Jun-2019

    Summary

    Official Symbol
    ELMOD3provided by HGNC
    Official Full Name
    ELMO domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:26158
    See related
    Ensembl:ENSG00000115459 MIM:615427
    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
    LST3; RBED1; RBM29; DFNB88
    Summary
    This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in fat (RPKM 29.3), skin (RPKM 5.6) and 24 other tissues See more
    Orthologs

    Genomic context

    See ELMOD3 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (85354394..85391752)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85581843..85618875)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene trans-golgi network protein 2 Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 2 Neighboring gene retinol saturase Neighboring gene RNA, 7SL, cytoplasmic 113, pseudogene Neighboring gene capping actin protein, gelsolin like Neighboring gene uncharacterized LOC105374841 Neighboring gene SH2 domain containing 6

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21977, FLJ35601, MGC111036

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    kinocilium IEA
    Inferred from Electronic Annotation
    more info
     
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ELMO domain-containing protein 3
    Names
    ELMO/CED-12 domain containing 3
    RNA binding motif and ELMO/CED-12 domain 1
    RNA-binding motif and ELMO domain-containing protein 1
    RNA-binding motif protein 29
    deafness, autosomal recessive 88
    liver-specific organic anion transporter 3TM12
    organic anion transporter LST-3b

    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.

    Genomic

    1. NG_051291.1 RefSeqGene

      Range
      5327..42359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135021.2NP_001128493.1  ELMO domain-containing protein 3

      See identical proteins and their annotated locations for NP_001128493.1

      Status: REVIEWED

      Source sequence(s)
      AF258573, AK025630, BC112324
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Related
      ENSP00000386248.3, ENST00000409344.7
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family
    2. NM_001135022.2NP_001128494.1  ELMO domain-containing protein 3

      See identical proteins and their annotated locations for NP_001128494.1

      Status: REVIEWED

      Source sequence(s)
      AF258573, AK025630, BC010991, DA294897
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Related
      ENSP00000387139.3, ENST00000409013.8
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family
    3. NM_001135023.2NP_001128495.1  ELMO domain-containing protein 3

      See identical proteins and their annotated locations for NP_001128495.1

      Status: REVIEWED

      Source sequence(s)
      AF258573, AK025630, BC112324
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Related
      ENSP00000377434.4, ENST00000393852.8
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family
    4. NM_001329791.2NP_001316720.1  ELMO domain-containing protein 3

      Status: REVIEWED

      Source sequence(s)
      AC062037
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Related
      ENSP00000386304.2, ENST00000409890.6
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family
    5. NM_001329792.2NP_001316721.1  ELMO domain-containing protein 3

      Status: REVIEWED

      Source sequence(s)
      AC062037
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family
    6. NM_001329793.2NP_001316722.1  ELMO domain-containing protein 3

      Status: REVIEWED

      Source sequence(s)
      AC062037
      Consensus CDS
      CCDS46352.1
      UniProtKB/Swiss-Prot
      Q96FG2
      Conserved Domains (1) summary
      pfam04727
      Location:159308
      ELMO_CED12; ELMO/CED-12 family

    RNA

    1. NR_138131.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC062037
    2. NR_138132.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC062037
    3. NR_138133.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC062037
      Related
      ENST00000423095.7

    RefSeqs of Annotated Genomes: Homo sapiens 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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      85354394..85391752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453170.1XP_024308938.1  ELMO domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      pfam04727
      Location:155308
      ELMO_CED12; ELMO/CED-12 family
    2. XM_024453169.1XP_024308937.1  ELMO domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      pfam04727
      Location:155308
      ELMO_CED12; ELMO/CED-12 family
    3. XM_024453171.1XP_024308939.1  ELMO domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      pfam04727
      Location:155308
      ELMO_CED12; ELMO/CED-12 family
    4. XM_024453172.1XP_024308940.1  ELMO domain-containing protein 3 isoform X1

      Related
      ENSP00000318264.7, ENST00000315658.11
      Conserved Domains (1) summary
      pfam04727
      Location:155308
      ELMO_CED12; ELMO/CED-12 family

    RNA

    1. XR_001738978.1 RNA Sequence

    2. XR_001738979.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032213.4: Suppressed sequence

      Description
      NM_032213.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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