ENSG00000140598


Homo sapiens

Features
Gene ID: ENSG00000140598
  
Biological name :EFL1
  
Synonyms : EFL1 / elongation factor like GTPase 1 / Q7Z2Z2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q25.2
Gene start: 82130230
Gene end: 82262763
  
Corresponding Affymetrix probe sets: 218973_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000454186
Ensembl peptide - ENSP00000452825
Ensembl peptide - ENSP00000452990
Ensembl peptide - ENSP00000268206
Ensembl peptide - ENSP00000352418
Ensembl peptide - ENSP00000452687
NCBI entrez gene - 79631     See in Manteia.
OMIM - 617538
RefSeq - XM_011522000
RefSeq - NM_001040610
RefSeq - NM_001322844
RefSeq - NM_001322845
RefSeq - NM_024580
RefSeq Peptide - NP_001309774
RefSeq Peptide - NP_001035700
RefSeq Peptide - NP_001309773
RefSeq Peptide - NP_078856
swissprot - H0YNW8
swissprot - H0YKI9
swissprot - Q7Z2Z2
swissprot - H0YK75
swissprot - H0YKY7
Ensembl - ENSG00000140598
  
Related genetic diseases (OMIM): 617941 - Shwachman-Diamond syndrome 2, 617941
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
 efl1ENSDARG00000079672Danio rerio
 EFL1ENSGALG00000006225Gallus gallus
 Efl1ENSMUSG00000038563Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000640  Elongation factor EFG, domain V-like
 IPR000795  Transcription factor, GTP-binding domain
 IPR005225  Small GTP-binding protein domain
 IPR009000  Translation protein, beta-barrel domain superfamily
 IPR014721  Ribosomal protein S5 domain 2-type fold, subgroup
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035647  EF-G domain III/V-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006412 translation IEA
 biological_processGO:0006414 translational elongation IEA
 biological_processGO:0042254 ribosome biogenesis IEA
 biological_processGO:0042256 mature ribosome assembly IMP
 biological_processGO:0046039 GTP metabolic process IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003746 translation elongation factor activity IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0043022 ribosome binding IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000670 Carious teeth 
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 HP:0000691 Microdontia 
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 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001873 Thrombocytopenia 
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 HP:0001875 Neutropenia 
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 HP:0001903 Anemia 
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 HP:0001915 Aplastic anemia 
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 HP:0002024 Malabsorption 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002719 Recurrent infections 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002863 Myelodysplasia 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004808 Acute myeloid leukemia "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators]
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 HP:0005528 Bone marrow hypoplasia 
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0010306 Short thorax "Reduced inferior to superior extent of the thorax." [HPO:curators]
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 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
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 HP:0100651 Diabetes mellitus Type I 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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