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

Gene ID: 84173, updated on 13-Feb-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:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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_001135021.1NP_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, DA294897
    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, ENST00000409013.7
    Conserved Domains (1) summary
    pfam04727
    Location:159308
    ELMO_CED12; ELMO/CED-12 family
  3. NM_001135023.1NP_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, DA294897
    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_001329791.1NP_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_001329792.1NP_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_001329793.1NP_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.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 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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