ENSG00000124440


Homo sapiens

Features
Gene ID: ENSG00000124440
  
Biological name :HIF3A
  
Synonyms : HIF3A / hypoxia inducible factor 3 alpha subunit / Q9Y2N7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.32
Gene start: 46297046
Gene end: 46343433
  
Corresponding Affymetrix probe sets: 1555318_at (Human Genome U133 Plus 2.0 Array)   1556069_s_at (Human Genome U133 Plus 2.0 Array)   219319_at (Human Genome U133 Plus 2.0 Array)   222123_s_at (Human Genome U133 Plus 2.0 Array)   222124_at (Human Genome U133 Plus 2.0 Array)   232669_at (Human Genome U133 Plus 2.0 Array)   233517_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435200
Ensembl peptide - ENSP00000434700
Ensembl peptide - ENSP00000435532
Ensembl peptide - ENSP00000471560
Ensembl peptide - ENSP00000469031
Ensembl peptide - ENSP00000244303
Ensembl peptide - ENSP00000300862
Ensembl peptide - ENSP00000366898
Ensembl peptide - ENSP00000432613
Ensembl peptide - ENSP00000432809
Ensembl peptide - ENSP00000434653
NCBI entrez gene - 64344     See in Manteia.
OMIM - 609976
RefSeq - XM_017027142
RefSeq - XM_005259156
RefSeq - XM_017027132
RefSeq - XM_017027133
RefSeq - XM_017027134
RefSeq - XM_017027135
RefSeq - XM_017027136
RefSeq - XM_017027137
RefSeq - XM_017027138
RefSeq - XM_017027139
RefSeq - XM_017027140
RefSeq - XM_017027141
RefSeq - NM_022462
RefSeq - NM_152794
RefSeq - NM_152795
RefSeq - NM_152796
RefSeq - XM_005259152
RefSeq - XM_005259153
RefSeq - XM_005259155
RefSeq Peptide - NP_690007
RefSeq Peptide - NP_690008
RefSeq Peptide - NP_690009
RefSeq Peptide - NP_071907
swissprot - M0R104
swissprot - E9PJR0
swissprot - E9PNQ7
swissprot - Q9Y2N7
swissprot - E9PLC8
swissprot - H0YDZ5
swissprot - H0YE02
Ensembl - ENSG00000124440
  

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
 hif1alENSDARG00000100826Danio rerio
 Hif3aENSMUSG00000004328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPAS1 / Q99814 / endothelial PAS domain protein 1ENSG0000011601640
HIF1A / Q16665 / hypoxia inducible factor 1 alpha subunitENSG0000010064440
NPAS3 / Q8IXF0 / neuronal PAS domain protein 3ENSG0000015132225
SIM2 / Q14190 / single-minded family bHLH transcription factor 2ENSG0000015926324
SIM1 / P81133 / single-minded family bHLH transcription factor 1ENSG0000011224624
NPAS1 / Q99742 / neuronal PAS domain protein 1ENSG0000013075121
ARNT2 / Q9HBZ2 / aryl hydrocarbon receptor nuclear translocator 2ENSG0000017237917
CLOCK / O15516 / clock circadian regulatorENSG0000013485217
ARNT / P27540 / aryl hydrocarbon receptor nuclear translocatorENSG0000014343716
NPAS2 / Q99743 / neuronal PAS domain protein 2ENSG0000017048516
ARNTL2 / Q8WYA1 / aryl hydrocarbon receptor nuclear translocator like 2ENSG0000002915315
ARNTL / O00327 / aryl hydrocarbon receptor nuclear translocator likeENSG0000013379414


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR001610  PAC motif
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR013655  PAS fold-3
 IPR013767  PAS fold
 IPR021537  Hypoxia-inducible factor, alpha subunit
 IPR035965  PAS domain superfamily
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001666 response to hypoxia 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:0006915 apoptotic process IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IBA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression by Hypoxia-inducible Factor
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
Neddylation


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / reaction / complex
 ENSG00000109332 P61077 / UBE2D3 / ubiquitin conjugating enzyme E2 D3  / reaction
 ENSG00000134086 VHL / P40337 / von Hippel-Lindau tumor suppressor  / complex / reaction
 ENSG00000131508 P62837 / UBE2D2 / ubiquitin conjugating enzyme E2 D2  / reaction
 ENSG00000154582 ELOC / Q15369 / elongin C  / complex / reaction
 ENSG00000108094 CUL2 / Q13617 / cullin 2  / complex / reaction
 ENSG00000103363 ELOB / Q15370 / elongin B  / complex / reaction
 ENSG00000072401 P51668 / UBE2D1 / ubiquitin conjugating enzyme E2 D1  / reaction
 ENSG00000129521 EGLN3 / Q9H6Z9 / egl-9 family hypoxia inducible factor 3  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex
 ENSG00000269858 EGLN2 / Q96KS0 / egl-9 family hypoxia inducible factor 2  / reaction
 ENSG00000144791 LIMD1 / Q9UGP4 / LIM domains containing 1  / complex / reaction
 ENSG00000143437 ARNT / P27540 / aryl hydrocarbon receptor nuclear translocator  / complex / reaction
 ENSG00000135766 EGLN1 / Q9GZT9 / egl-9 family hypoxia inducible factor 1  / reaction / complex






 

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