Format

Send to:

Choose Destination

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

Gene ID: 55531, updated on 24-Nov-2020

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
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
Expression
Biased expression in brain (RPKM 21.6), skin (RPKM 11.2) and 2 other tissues See more
Orthologs

Genomic context

See ELMOD1 in Genome Data Viewer
Location:
11q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (107591009..107666779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107461817..107537505)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene alkB homolog 8, tRNA methyltransferase Neighboring gene uncharacterized LOC112267904 Neighboring gene SUCLG2 pseudogene 3 Neighboring gene MOB-like protein phocein 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?

Phenotypes

Associated conditions

Description Tests
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25337, DKFZp547C176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ELMO domain-containing protein 1
Names
ELMO/CED-12 domain containing 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_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/Swiss-Prot
    Q8N336
    Related
    ENSP00000412257.2, ENST00000443271.2
    Conserved Domains (1) summary
    pfam04727
    Location:119290
    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/Swiss-Prot
    Q8N336
    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
    Q8N336
    Related
    ENSP00000265840.7, ENST00000265840.12
    Conserved Domains (1) summary
    pfam04727
    Location:119298
    ELMO_CED12; ELMO/CED-12 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    107591009..107666779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017994.2XP_016873483.1  ELMO domain-containing protein 1 isoform X1

  2. XM_017017995.2XP_016873484.1  ELMO domain-containing protein 1 isoform X1

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.
Support Center