ENSG00000146247


Homo sapiens

Features
Gene ID: ENSG00000146247
  
Biological name :PHIP
  
Synonyms : PHIP / pleckstrin homology domain interacting protein / Q8WWQ0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q14.1
Gene start: 78935867
Gene end: 79078236
  
Corresponding Affymetrix probe sets: 1557362_at (Human Genome U133 Plus 2.0 Array)   1557363_a_at (Human Genome U133 Plus 2.0 Array)   212542_s_at (Human Genome U133 Plus 2.0 Array)   213074_at (Human Genome U133 Plus 2.0 Array)   244811_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000275034
NCBI entrez gene - 55023     See in Manteia.
OMIM - 612870
RefSeq - XM_017010990
RefSeq - NM_017934
RefSeq - XM_011535919
RefSeq - XM_017010989
RefSeq - XM_005248729
RefSeq - XM_011535918
RefSeq Peptide - NP_060404
swissprot - Q8WWQ0
Ensembl - ENSG00000146247
  
Related genetic diseases (OMIM): 617991 - Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
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
 phipENSDARG00000015970Danio rerio
 PHIPENSGALG00000015889Gallus gallus
 PhipENSMUSG00000032253Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BRWD3 / Q6RI45 / bromodomain and WD repeat domain containing 3ENSG0000016528855
BRWD1 / Q9NSI6 / bromodomain and WD repeat domain containing 1ENSG0000018565853


Protein motifs (from Interpro)
Interpro ID Name
 IPR001487  Bromodomain
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR018359  Bromodomain, conserved site
 IPR019775  WD40 repeat, conserved site
 IPR028738  PH-interacting protein
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036427  Bromodomain-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001932 regulation of protein phosphorylation ISS
 biological_processGO:0007010 cytoskeleton organization IMP
 biological_processGO:0008284 positive regulation of cell proliferation ISS
 biological_processGO:0008286 insulin receptor signaling pathway NAS
 biological_processGO:0008360 regulation of cell shape IBA
 biological_processGO:0022604 regulation of cell morphogenesis IMP
 biological_processGO:0043066 negative regulation of apoptotic process ISS
 biological_processGO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway ISS
 biological_processGO:0045840 positive regulation of mitotic nuclear division ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005158 insulin receptor binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0070577 lysine-acetylated histone binding IDA


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






 

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