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HIF3A

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
HIF3A
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

4WN5

Identifiers
AliasesHIF3A, HIF-3A, IPAS, MOP7, PASD7, bHLHe17, HIF3-alpha-1, hypoxia inducible factor 3 alpha subunit, hypoxia inducible factor 3 subunit alpha
External IDsOMIM:609976;MGI:1859778;HomoloGene:9646;GeneCards:HIF3A;OMA:HIF3A - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for HIF3A
Genomic location for HIF3A
Band19q13.32Start46,297,042bp[1]
End46,343,433bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for HIF3A
Genomic location for HIF3A
Band7|7 A2Start16,765,432bp[2]
End16,796,352bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastric mucosa

  • apex of heart

  • right lung

  • left uterine tube

  • muscle layer of sigmoid colon

  • right auricle of heart

  • sural nerve

  • left ventricle

  • popliteal artery

  • tibial arteries
Top expressed in
  • fetal liver hematopoietic progenitor cell

  • left lung lobe

  • external carotid artery

  • internal carotid artery

  • fossa

  • human fetus

  • atrium

  • efferent ductule

  • umbilical cord

  • migratory enteric neural crest cell
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

64344

53417

Ensembl

ENSG00000124440

ENSMUSG00000004328

UniProt

Q9Y2N7

Q0VBL6

RefSeq (mRNA)

NM_022462
NM_152794
NM_152795
NM_152796

NM_001162950
NM_016868

RefSeq (protein)

NP_071907
NP_690007
NP_690008
NP_690009

NP_001156422
NP_058564

Location (UCSC)Chr 19: 46.3 – 46.34 MbChr 7: 16.77 – 16.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hypoxia-inducible factor 3 alpha is aprotein that in humans is encoded by theHIF3Agene.[5][6][7]

Function

[edit]

The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunitheterodimerictranscription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. At least three transcript variants encoding three different isoforms have been found for this gene.[7]

In rats, it plays a negative role in the adaptation to hypoxia, because the inhibition of HIF-3α expression leads to an increase in physical endurance.[8]

Clinical significance

[edit]

DNA methylation in theintrons of HIF3A is associated withBMI an adiposity.[9]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000124440Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000004328Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Hara S, Hamada J, Kobayashi C, Kondo Y, Imura N (Sep 2001). "Expression and characterization of hypoxia-inducible factor (HIF)-3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha".Biochem Biophys Res Commun.287 (4):808–13.Bibcode:2001BBRC..287..808H.doi:10.1006/bbrc.2001.5659.PMID 11573933.
  6. ^Makino Y, Cao R, Svensson K, Bertilsson G, Asman M, Tanaka H, Cao Y, Berkenstam A, Poellinger L (Dec 2001). "Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression".Nature.414 (6863):550–4.Bibcode:2001Natur.414..550M.doi:10.1038/35107085.PMID 11734856.S2CID 4389117.
  7. ^ab"Entrez Gene: HIF3A hypoxia inducible factor 3, alpha subunit".
  8. ^Drevytska T, Gavenauskas B, Drozdovska S, Nosar V, Dosenko V, Mankovska I (2012)."HIF-3α mRNA expression changes in different tissues and their role in adaptation to intermittent hypoxia and physical exercise".Pathophysiology.19 (3):205–14.doi:10.1016/j.pathophys.2012.06.002.PMID 22884965.
  9. ^Dick KJ, Nelson CP, Tsaprouni L, Sandling JK, Aïssi D, Wahl S, Meduri E, Morange PE, Gagnon F, Grallert H, Waldenberger M, Peters A, Erdmann J, Hengstenberg C, Cambien F, Goodall AH, Ouwehand WH, Schunkert H, Thompson JR, Spector TD, Gieger C, Trégouët DA, Deloukas P, Samani NJ (2014)."DNA methylation and body-mass index: a genome-wide analysis".Lancet.383 (9933):1990–1998.doi:10.1016/S0140-6736(13)62674-4.PMID 24630777.S2CID 18026508.

Further reading

[edit]
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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