ENSG00000185630


Homo sapiens

Features
Gene ID: ENSG00000185630
  
Biological name :PBX1
  
Synonyms : P40424 / PBX1 / PBX homeobox 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q23.3
Gene start: 164555584
Gene end: 164899296
  
Corresponding Affymetrix probe sets: 205253_at (Human Genome U133 Plus 2.0 Array)   212148_at (Human Genome U133 Plus 2.0 Array)   212151_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453331
Ensembl peptide - ENSP00000453262
Ensembl peptide - ENSP00000473998
Ensembl peptide - ENSP00000485692
Ensembl peptide - ENSP00000483563
Ensembl peptide - ENSP00000341455
Ensembl peptide - ENSP00000356872
Ensembl peptide - ENSP00000405890
Ensembl peptide - ENSP00000439943
Ensembl peptide - ENSP00000452727
Ensembl peptide - ENSP00000452804
Ensembl peptide - ENSP00000453163
Ensembl peptide - ENSP00000453188
NCBI entrez gene - 5087     See in Manteia.
OMIM - 176310
RefSeq - XM_017001396
RefSeq - NM_001204961
RefSeq - NM_001204963
RefSeq - NM_001353130
RefSeq - NM_002585
RefSeq - XM_005245228
RefSeq - XM_005245229
RefSeq - XM_011509590
RefSeq - XM_011509591
RefSeq - XM_011509592
RefSeq - XM_017001395
RefSeq Peptide - NP_001191890
RefSeq Peptide - NP_001191892
RefSeq Peptide - NP_001340059
RefSeq Peptide - NP_001340060
RefSeq Peptide - NP_002576
swissprot - F8WA05
swissprot - H0YKH1
swissprot - H0YLB0
swissprot - H0YLD4
swissprot - H0YLF5
swissprot - H0YLM3
swissprot - H0YLT4
swissprot - Q53YC7
swissprot - P40424
swissprot - S4R377
swissprot - A0A024R919
swissprot - A0A0A0MTI0
swissprot - A0A087X0P4
Ensembl - ENSG00000185630
  
Related genetic diseases (OMIM): 617641 - Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641

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
 pbx1aENSDARG00000100494Danio rerio
 pbx1bENSDARG00000101131Danio rerio
 PBX1ENSGALG00000003429Gallus gallus
 Pbx1ENSMUSG00000052534Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PBX3 / P40426 / PBX homeobox 3ENSG0000016708183
PBX2 / P40425 / PBX homeobox 2ENSG0000020430474
PBX4 / Q9BYU1 / PBX homeobox 4ENSG0000010571758


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR005542  PBX
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001655 urogenital system development IEA
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0007221 positive regulation of transcription of Notch receptor target TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007548 sex differentiation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009887 animal organ morphogenesis IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009954 proximal/distal pattern formation IEA
 biological_processGO:0010971 positive regulation of G2/M transition of mitotic cell cycle IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030278 regulation of ossification IEA
 biological_processGO:0030325 adrenal gland development IEA
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0035019 somatic stem cell population maintenance TAS
 biological_processGO:0035162 embryonic hemopoiesis IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0045665 negative regulation of neuron differentiation IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048536 spleen development IEA
 biological_processGO:0048538 thymus development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048706 embryonic skeletal system development IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Transcriptional regulation of pluripotent stem cells
Activation of anterior HOX genes in hindbrain development during early embryogenesis
NOTCH3 Intracellular Domain Regulates Transcription


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000120094 HOXB1 / P14653 / homeobox B1  / complex
 ENSG00000143995 MEIS1 / O00470 / Meis homeobox 1  / complex
 ENSG00000160199 P55347 / PKNOX1 / PBX/knotted 1 homeobox 1  / complex






 

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