• Gene id: 64344

Gene Summary

• Gene Symbol: HIF3A   Gene   UCSC   Ensembl
• Aliases: HIF-3A, HIF3-alpha-1, IPAS, MOP7, PASD7, bHLHe17
• Gene name: hypoxia inducible factor 3 subunit alpha
• Alternate names: hypoxia-inducible factor 3-alpha, PAS domain-containing protein 7, basic-helix-loop-helix-PAS protein MOP7, class E basic helix-loop-helix protein 17, hypoxia inducible factor 3 alpha subunit, inhibitory PAS domain protein, member of PAS protein 7,
• Gene location: 19q13.32 (46297041: 46343432)     Exons: 18     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain fo
• OMIM: 609976

Protein Summary

• Protein general information: Q9Y2N7  
  • Name: Hypoxia inducible factor 3 alpha (HIF 3 alpha) (HIF3 alpha) (Basic helix loop helix PAS protein MOP7) (Class E basic helix loop helix protein 17) (bHLHe17) (HIF3 alpha 1) (Inhibitory PAS domain protein) (IPAS) (Member of PAS protein 7) (PAS domain contain
  • Length: 669  
  • Mass: 72433
  • Tissue specificity: Expressed in vascular cells (at protein level) (PubMed
• Sequence:

  MALGLQRARSTTELRKEKSRDAARSRRSQETEVLYQLAHTLPFARGVSAHLDKASIMRLTISYLRMHRLCAAGEW
  NQVGAGGEPLDACYLKALEGFVMVLTAEGDMAYLSENVSKHLGLSQLELIGHSIFDFIHPCDQEELQDALTPQQT
  LSRRKVEAPTERCFSLRMKSTLTSRGRTLNLKAATWKVLNCSGHMRAYKPPAQTSPAGSPDSEPPLQCLVLICEA
  IPHPGSLEPPLGRGAFLSRHSLDMKFTYCDDRIAEVAGYSPDDLIGCSAYEYIHALDSDAVSKSIHTLLSKGQAV
  TGQYRFLARSGGYLWTQTQATVVSGGRGPQSESIVCVHFLISQVEETGVVLSLEQTEQHSRRPIQRGAPSQKDTP
  NPGDSLDTPGPRILAFLHPPSLSEAALAADPRRFCSPDLRRLLGPILDGASVAATPSTPLATRHPQSPLSADLPD
  ELPVGTENVHRLFTSGKDTEAVETDLDIAQDADALDLEMLAPYISMDDDFQLNASEQLPRAYHRPLGAVPRPRAR
  SFHGLSPPALEPSLLPRWGSDPRLSCSSPSRGDPSASSPMAGARKRTLAQSSEDEDEGVELLGVRPPKRSPSPEH
  ENFLLFPLSLSFLLTGGPAPGSLQDPSTPLLNLNEPLGLGPSLLSPYSDEDTTQPGGPFQPRAGSAQAD

• Structural information:
  • Protein Domains: (14..6-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (82..15-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (227..29-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140"-)
  • Interpro: IPR011598  IPR021537  IPR036638  IPR001610  IPR000014   IPR035965  IPR013767  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 4WN5
  • PDBsum: 4WN5
  • STRING: ENSP00000366898
• Other Databases: GeneCards:  HIF3A  Malacards:  HIF3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	is active in
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R