ENSG00000171634


Homo sapiens

Features
Gene ID: ENSG00000171634
  
Biological name :BPTF
  
Synonyms : BPTF / bromodomain PHD finger transcription factor / Q12830
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q24.2
Gene start: 67825524
Gene end: 67984378
  
Corresponding Affymetrix probe sets: 207186_s_at (Human Genome U133 Plus 2.0 Array)   209271_at (Human Genome U133 Plus 2.0 Array)   230056_at (Human Genome U133 Plus 2.0 Array)   231953_at (Human Genome U133 Plus 2.0 Array)   232909_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000463736
Ensembl peptide - ENSP00000462703
Ensembl peptide - ENSP00000463776
Ensembl peptide - ENSP00000496182
Ensembl peptide - ENSP00000463845
Ensembl peptide - ENSP00000307208
Ensembl peptide - ENSP00000315454
Ensembl peptide - ENSP00000334351
Ensembl peptide - ENSP00000343837
Ensembl peptide - ENSP00000388405
Ensembl peptide - ENSP00000440854
Ensembl peptide - ENSP00000443949
Ensembl peptide - ENSP00000462535
NCBI entrez gene - 2186     See in Manteia.
OMIM - 601819
RefSeq - XM_017024354
RefSeq - XM_005257157
RefSeq - XM_005257158
RefSeq - XM_005257159
RefSeq - XM_005257160
RefSeq - XM_005257161
RefSeq - XM_011524520
RefSeq - XM_011524521
RefSeq - XM_011524522
RefSeq - XM_011524523
RefSeq - XM_011524524
RefSeq - XM_011524525
RefSeq - XM_011524526
RefSeq - XM_017024353
RefSeq - NM_004459
RefSeq - NM_182641
RefSeq - XM_005257150
RefSeq - XM_005257151
RefSeq - XM_005257152
RefSeq - XM_005257153
RefSeq - XM_005257154
RefSeq - XM_005257155
RefSeq - XM_005257156
RefSeq Peptide - NP_004450
RefSeq Peptide - NP_872579
swissprot - F5GXF5
swissprot - F5H176
swissprot - J3KSK9
swissprot - J3KSY0
swissprot - E9PE19
swissprot - J3QQK4
swissprot - J3QQQ8
swissprot - Q12830
swissprot - A0A0A0MR81
swissprot - J3QLW4
swissprot - E7ETD6
Ensembl - ENSG00000171634
  
Related genetic diseases (OMIM): 617755 - Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755
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
 bptfENSDARG00000077361Danio rerio
 BPTFENSGALG00000038222Gallus gallus
 BptfENSMUSG00000040481Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CECR2 / Q9BXF3 / CECR2, histone acetyl-lysine readerENSG000000999548
KAT2B / Q92831 / lysine acetyltransferase 2BENSG000001141668
KAT2A / Q92830 / lysine acetyltransferase 2AENSG000001087737


Protein motifs (from Interpro)
Interpro ID Name
 IPR001487  Bromodomain
 IPR001965  Zinc finger, PHD-type
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR018359  Bromodomain, conserved site
 IPR018501  DDT domain
 IPR019786  Zinc finger, PHD-type, conserved site
 IPR019787  Zinc finger, PHD-finger
 IPR028941  WHIM2 domain
 IPR028942  WHIM1 domain
 IPR036427  Bromodomain-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006338 chromatin remodeling IDA
 biological_processGO:0006351 transcription, DNA-templated IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0007492 endoderm development IEA
 biological_processGO:0009611 response to wounding IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:1990090 cellular response to nerve growth factor stimulus IEA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0016589 NURF complex IDA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0044297 cell body IEA
 cellular_componentGO:0048188 Set1C/COMPASS complex IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008094 DNA-dependent ATPase activity IDA
 molecular_functionGO:0008134 transcription factor binding IDA
 molecular_functionGO:0035064 methylated histone binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IMP
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr