ENSG00000100883


Homo sapiens

Features
Gene ID: ENSG00000100883
  
Biological name :SRP54
  
Synonyms : P61011 / signal recognition particle 54 / SRP54
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q13.2
Gene start: 34981957
Gene end: 35029567
  
Corresponding Affymetrix probe sets: 1557504_at (Human Genome U133 Plus 2.0 Array)   1557505_a_at (Human Genome U133 Plus 2.0 Array)   203605_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451818
Ensembl peptide - ENSP00000451775
Ensembl peptide - ENSP00000486764
Ensembl peptide - ENSP00000216774
Ensembl peptide - ENSP00000440629
Ensembl peptide - ENSP00000451037
Ensembl peptide - ENSP00000451313
Ensembl peptide - ENSP00000451647
NCBI entrez gene - 6729     See in Manteia.
OMIM - 604857
RefSeq - XM_017021615
RefSeq - NM_001146282
RefSeq - NM_003136
RefSeq - XM_005268024
RefSeq - XM_011537106
RefSeq Peptide - NP_001139754
RefSeq Peptide - NP_003127
swissprot - G3V346
swissprot - G3V3L9
swissprot - G3V480
swissprot - P61011
swissprot - G3V4F7
swissprot - A0A0D9SFN7
Ensembl - ENSG00000100883
  
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
 srp54ENSDARG00000098367Danio rerio
 SRP54ENSGALG00000023135Gallus gallus
 Srp54ENSMUSG00000112449Mus musculus
 Srp54ENSMUSG00000073079Mus musculus
 Srp54bENSMUSG00000079108Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000897  Signal recognition particle, SRP54 subunit, GTPase domain
 IPR003593  AAA+ ATPase domain
 IPR004125  Signal recognition particle, SRP54 subunit, M-domain
 IPR006325  Signal recognition particle, SRP54 subunit, eukaryotic
 IPR013822  Signal recognition particle, SRP54 subunit, helical bundle
 IPR022941  Signal recognition particle, SRP54 subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036225  SRP/SRP receptor, N-terminal
 IPR036891  Signal recognition particle, SRP54 subunit, M-domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006614 SRP-dependent cotranslational protein targeting to membrane IEA
 biological_processGO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation ISS
 biological_processGO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition ISS
 biological_processGO:0042493 response to drug IDA
 biological_processGO:0045047 protein targeting to ER IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005786 signal recognition particle, endoplasmic reticulum targeting IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0048500 signal recognition particle IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0008144 drug binding IDA
 molecular_functionGO:0008312 7S RNA binding IDA
 molecular_functionGO:0019003 GDP binding IDA
 molecular_functionGO:0030942 endoplasmic reticulum signal peptide binding IDA
 molecular_functionGO:0043021 ribonucleoprotein complex binding IDA


Pathways (from Reactome)
Pathway description
SRP-dependent cotranslational protein targeting to membrane


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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