ENSG00000245848


Homo sapiens

Features
Gene ID: ENSG00000245848
  
Biological name :CEBPA
  
Synonyms : CCAAT/enhancer binding protein alpha / CEBPA / P49715
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.11
Gene start: 33299934
Gene end: 33302564
  
Corresponding Affymetrix probe sets: 204039_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427514
NCBI entrez gene - 1050     See in Manteia.
OMIM - 116897
RefSeq - NM_001287435
RefSeq - NM_004364
RefSeq - NM_001285829
RefSeq - NM_001287424
RefSeq Peptide - NP_001272758
RefSeq Peptide - NP_001274353
RefSeq Peptide - NP_001274364
RefSeq Peptide - NP_004355
swissprot - P49715
Ensembl - ENSG00000245848
  
Related genetic diseases (OMIM): 601626 - ?Leukemia, acute myeloid, 601626

This gene has been taged as a transcription factor by TFT
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
 cebpaENSDARG00000036074Danio rerio
 CEBPAENSGALG00000026525Gallus gallus
 CebpaENSMUSG00000034957Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CEBPE / Q15744 / CCAAT/enhancer binding protein epsilonENSG0000009206732
CEBPB / P17676 / CCAAT/enhancer binding protein betaENSG0000017221628
CEBPD / P49716 / CCAAT/enhancer binding protein deltaENSG0000022186923
CEBPG / P53567 / CCAAT/enhancer binding protein gammaENSG0000015387912


Protein motifs (from Interpro)
Interpro ID Name
 IPR004827  Basic-leucine zipper domain
 IPR016468  CCAAT/enhancer-binding protein, chordates


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000050 urea cycle IEA
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 biological_processGO:0006351 transcription, DNA-templated NAS
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007005 mitochondrion organization IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway NAS
 biological_processGO:0030099 myeloid cell differentiation IEA
 biological_processGO:0030225 macrophage differentiation IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030851 granulocyte differentiation IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process TAS
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0045444 fat cell differentiation IEA
 biological_processGO:0045600 positive regulation of fat cell differentiation IEA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IEA
 biological_processGO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity TAS
 biological_processGO:0045786 negative regulation of cell cycle IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0045945 positive regulation of transcription by RNA polymerase III IDA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0050872 white fat cell differentiation IEA
 biological_processGO:0050873 brown fat cell differentiation IEA
 biological_processGO:0055088 lipid homeostasis IEA
 biological_processGO:0071285 cellular response to lithium ion IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 cellular_componentGO:0005634 nucleus NAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IMP
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding TAS
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA


Pathways (from Reactome)
Pathway description
Transcriptional regulation of white adipocyte differentiation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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