ENSG00000179151


Homo sapiens

Features
Gene ID: ENSG00000179151
  
Biological name :EDC3
  
Synonyms : EDC3 / enhancer of mRNA decapping 3 / Q96F86
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q24.1
Gene start: 74630558
Gene end: 74696292
  
Corresponding Affymetrix probe sets: 219207_at (Human Genome U133 Plus 2.0 Array)   226042_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457523
Ensembl peptide - ENSP00000457156
Ensembl peptide - ENSP00000457170
Ensembl peptide - ENSP00000320503
Ensembl peptide - ENSP00000401343
Ensembl peptide - ENSP00000454317
Ensembl peptide - ENSP00000454885
Ensembl peptide - ENSP00000455393
Ensembl peptide - ENSP00000455503
Ensembl peptide - ENSP00000455580
Ensembl peptide - ENSP00000455589
Ensembl peptide - ENSP00000455682
Ensembl peptide - ENSP00000455870
Ensembl peptide - ENSP00000456805
Ensembl peptide - ENSP00000457128
NCBI entrez gene - 80153     See in Manteia.
OMIM - 609842
RefSeq - NM_001142444
RefSeq - NM_001142443
RefSeq - NM_001351378
RefSeq - NM_001351379
RefSeq - NM_025083
RefSeq - XM_011522092
RefSeq Peptide - NP_001338308
RefSeq Peptide - NP_079359
RefSeq Peptide - NP_001338307
RefSeq Peptide - NP_001135915
RefSeq Peptide - NP_001135916
swissprot - H3BU87
swissprot - H3BMB8
swissprot - Q96F86
swissprot - H3BNJ7
swissprot - H3BPN4
swissprot - H3BPW9
swissprot - H3BQ37
swissprot - H3BQP5
swissprot - H3BQA1
swissprot - H3BSQ0
swissprot - H3BTD6
swissprot - H3BTF8
swissprot - H3BTH0
Ensembl - ENSG00000179151
  
Related genetic diseases (OMIM): 616460 - ?Mental retardation, autosomal recessive 50, 616460
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 edc3ENSDARG00000051931Danio rerio
 EDC3ENSGALG00000040181Gallus gallus
 Edc3ENSMUSG00000038957Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004443  YjeF N-terminal domain
 IPR019050  FDF domain
 IPR025609  Lsm14-like, N-terminal
 IPR025762  DFDF domain
 IPR034107  Lsm16, N-terminal
 IPR036652  YjeF N-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0031087 deadenylation-independent decapping of nuclear-transcribed mRNA IEA
 biological_processGO:0033962 cytoplasmic mRNA processing body assembly IBA
 biological_processGO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA
 cellular_componentGO:0000932 P-body IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:1990174 phosphodiesterase decapping endonuclease activity IMP


Pathways (from Reactome)
Pathway description
mRNA decay by 5 to 3 exoribonuclease


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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