HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [ Homo sapiens ]

Gene ID: 3091, updated on 20-May-2012

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Summary

Official Symbol: HIF1Aprovided by HGNC
Official Full Name: hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)provided by HGNC
Primary source: HGNC:4910
See related: Ensembl:ENSG00000100644; HPRD:04517; MIM:603348; Vega:OTTHUMG00000140344
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HIF1; MOP1; PASD8; bHLHe78; HIF-1alpha; HIF1-ALPHA
Summary: This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]

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Genomic context

Location :: 14q23.2

Sequence :: Chromosome: 14; NC_000014.8 (62162119..62214977)

See HIF1A in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

soluble ErbB4 intracellular domain promotes HIF-1alpha stability and signaling via a novel mechanism.
Title: Interaction with ErbB4 promotes hypoxia-inducible factor-1α signaling.
Data suggest that conditions that mimic hypoxia increase vascular endothelial growth factor (VEGF) expression via HIF-1a and decrease stromal cell-derived factor-1 (SDF-1) expression in HIF-1a-independent manner in endometrial stromal cells.
Title: Hypoxic stress simultaneously stimulates vascular endothelial growth factor via hypoxia-inducible factor-1α and inhibits stromal cell-derived factor-1 in human endometrial stromal cells.
HIF-1alpha might reduce proliferation and survivin expression in primary human osteoblasts independently from cellular hypoxia. HIF-1alpha promoted the loss of the characteristic osteoblastic marker, osteocalcin in vitro.
Title: Hypoxic downregulation of cellular proliferation and loss of phenotype stability in human osteoblasts is mediated by HIF-1α.
Linear regression analysis revealed no correlation between basal HIF-1alpha levels and the survival fraction at either 2 or 4 Gy in all tumor cell lines investigated.
Title: Basal HIF-1α expression levels are not predictive for radiosensitivity of human cancer cell lines.
RSUME critically regulates HIF-1a and VEGF-A production and thus might play an important role in pituitary tumour neovascularisation
Title: RSUME is implicated in HIF-1-induced VEGF-A production in pituitary tumour cells.
Hypoxia-inducible factor-1alpha (HIF-1alpha) induced activation of Notch pathway is essential for hypoxia-mediated maintenance of glioblastoma stem cells.
Title: HIF-1α is critical for hypoxia-mediated maintenance of glioblastoma stem cells by activating Notch signaling pathway.
HIF-1alpha expression in primary hepatocellular carcinoma was associated with External beam radiotherapy response of abdominal metastatic lymph nodes and poor prognosis.
Title: The expression of HIF-1α in primary hepatocellular carcinoma and its correlation with radiotherapy response and clinical outcome.
sequential activation of two transcription factors, HIF and Sp1, is required to stimulate transcription of Abcc8 following cerebral ischemia.
Title: Sequential activation of hypoxia-inducible factor 1 and specificity protein 1 is required for hypoxia-induced transcriptional stimulation of Abcc8.
These results identify FHL proteins as negative regulators of HIF-1 activity, which may provide a mechanism by which they suppress tumor growth.
Title: Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1.
we have demonstrated that HIF-1alpha and HSP90 play an important role in the tumorigenesis of papillary thyroid carcinoma
Title: HIF-1α and HSP90: target molecules selected from a tumorigenic papillary thyroid carcinoma cell line.

Submit: New GeneRIF Correction See all (1184)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association with select biomarker traits in the Framingham Heart Study.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001521.1	NP_001659.1	ARNT	BIND	PubMed	HIF-1alpha interacts with HIF-1beta
NP_001521.1	NP_848514.1	ARNT	BIND	PubMed	HIF-1alpha isoform 1 interacts with HIF-1beta isoform 3
NP_001521.1	NP_478102.1	CDKN2A	BIND	PubMed	p14ARF interacts with HIF-1alpha.
NP_001521.1	NP_006828.1	COPS5	BIND	PubMed	Jab1 interacts with HIF-1alpha.
NP_001521.1	NP_071334.1	EGLN1	BIND	PubMed	HIF-1 alpha interacts with PHD2.
NP_001521.1	NP_071356.1	EGLN3	BIND	PubMed	HIF-1 alpha interacts with PHD3.
NP_001521.1	L16588.1	EPO	BIND	PubMed	HIF1A (HIF-1-alpha) interacts with the EPO gene 3(prime) enhancer.
NP_001521.1	NP_006803.1	OS9	BIND	PubMed	HIF-1 alpha interacts with OS-9.
NP_001521.1	NP_000312.1	RB1	BIND	PubMed	RB1 (pRB) interacts with HIF1A (HIF-1-alpha).
NP_001521.1	NP_000537.2	TP53	BIND	PubMed	HIF-1alpha interacts with p53
NP_001521.1	NP_000537.2	TP53	BIND	PubMed	p53 interacts with HIF-1 alpha.
NP_001521.1	AF095785.1	VEGFA	BIND	PubMed	HIF1A (HIF-1-alpha) interacts with the VEGF promoter.
NP_001521.1	NP_000542.1	VHL	BIND	PubMed	HIF1A (HIF-1alpha) interacts with VHL.
NP_001521.1	NP_000542.1	VHL	BIND	PubMed	The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-alpha (HIF-1 alpha)
NP_001521.1		VHL	BIND	PubMed	Hydroxylated HIF-1 alpha interacts with VHL. This interaction was modeled on a demonstrated interaction between human hydroxylated HIF-1 alpha and an unspecified isoform of VHL from an unspecified species.
NP_001521.1			BIND	PubMed	HIF-1 alpha interacts with p53 dimer.
NP_001521.1			BIND	PubMed	Hydroxylated HIF-1 alpha interacts with the ElonginBC-VHL complex.
NP_851397.1	NP_001659.1	ARNT	BIND	PubMed	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 1
NP_851397.1	NP_848514.1	ARNT	BIND	PubMed	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 3
NP_851397.1	NP_000537.2	TP53	BIND	PubMed	p53 interacts with HIF-1 alpha.
NP_851397.1			BIND	PubMed	HIF-1 alpha interacts with p53 dimer.
Q16665	P27695	APEX1	HPRD	PubMed
Q16665	P10275	AR	HPRD	PubMed
Q16665	P27540	ARNT	HPRD	PubMed
Q16665	Q9HBZ2	ARNT2	HPRD	PubMed
Q16665	O00327	ARNTL	HPRD	PubMed
Q16665	Q8N726	CDKN2A	HPRD	PubMed
Q16665	Q99967	CITED2	HPRD	PubMed
Q16665	Q92905	COPS5	HPRD	PubMed
Q16665	Q92793	CREBBP	HPRD	PubMed
Q16665	P68400	CSNK2A1	HPRD	PubMed
Q16665	P35222	CTNNB1	HPRD	PubMed
Q16665	P51398	DAP3	HPRD	PubMed
Q16665	Q9GZT9	EGLN1	HPRD	PubMed
Q16665	Q96KS0	EGLN2	HPRD	PubMed
Q16665	Q9H6Z9	EGLN3	HPRD	PubMed
Q16665	Q09472	EP300	HPRD	PubMed
Q16665	Q13547	HDAC1	HPRD	PubMed
Q16665	Q9NWT6	HIF1AN	HPRD	PubMed
Q16665	Hypoxia inducible factor 3 alpha subunit	HIF3A	HPRD	PubMed
Q16665	P07900	HSP90AA1	HPRD	PubMed
Q16665	P05412	JUN	HPRD	PubMed
Q16665	P27361	MAPK3	HPRD	PubMed
Q16665	P61244	MAX	HPRD	PubMed
Q16665	Q00987	MDM2	HPRD	PubMed
Q16665	Q13330	MTA1	HPRD	PubMed
Q16665	P41227	NAA10	HPRD	PubMed
Q16665	ARD1 homolog B	NAA11	HPRD	PubMed
Q16665	Q15788	NCOA1	HPRD	PubMed
Q16665	Q15596	NCOA2	HPRD	PubMed
Q16665	Q99608	NDN	HPRD	PubMed
Q16665	Q13438	OS9	HPRD	PubMed
Q16665	O15534	PER1	HPRD	PubMed
Q16665	P00558	PGK1	HPRD	PubMed
Q16665	O14818	PSMA7	HPRD	PubMed
Q16665	Q9UHD8	SEPT9	HPRD	PubMed
Q16665	P08047	SP1	HPRD	PubMed
Q16665	O60224	SSX4B	HPRD	PubMed
Q16665	P40763	STAT3	HPRD	PubMed
Q16665	P04637	TP53	HPRD	PubMed
Q16665	Testis specific, 1	TSGA10	HPRD	PubMed
Q16665	P40337	VHL	HPRD	PubMed
Q16665	Q6RSH7	VHLL	HPRD	PubMed
BioGRID:109338	BioGRID:106825	APEX1	BioGRID	PubMed	Reconstituted Complex
	NP_001659.1	ARNT	BIND	PubMed	Arnt interacts with HIF1-alpha.
BioGRID:109338	BioGRID:106898	ARNT	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:109338	BioGRID:106899	ARNTL	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:109338	BioGRID:120308	BANP	BioGRID	PubMed	Affinity Capture-MS
	Z85996.1	CDKN1A	BIND	PubMed	HIF-1alpha interacts with CDKN1A promoter.
BioGRID:109338	BioGRID:127317	COMMD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
BioGRID:109338	BioGRID:114031	CUL2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109338	BioGRID:113587	DAP3	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:125184	EGLN2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:125185	EGLN3	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex
BioGRID:109338	BioGRID:116298	FAF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:116806	FAF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:120581	FBXW7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:115671	GNB2L1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109316	HDAC2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:115106	HDAC4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:115330	HDAC6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:120794	HIF1AN	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109558	HSP90AB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109928	JUN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:110319	MAX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:110340	MCM3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:110344	MCM7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:110358	MDM2	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:109338	BioGRID:114562	MTA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:250505	Mapk1	BioGRID	PubMed	Biochemical Activity
BioGRID:109338	BioGRID:113881	NAA10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:114200	NCOA1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:109407	NR4A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:121014	NSFL1C	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:207880	Naa10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:116156	OS9	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109338	BioGRID:106652	PARP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:111661	PSMA7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:111675	PSMC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:202111	Per1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:116067	RUVBL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:112210	SAT1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:125190	SAT2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:116015	SEPT9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:112479	SMARCA2	BioGRID	PubMed	Co-localization
BioGRID:109338	BioGRID:112481	SMARCA4	BioGRID	PubMed	Co-localization
	NP_612482.2	SP1	BIND	PubMed	Sp1 interacts with HIF-1alpha.
BioGRID:109338	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:112637	SSX4	BioGRID	PubMed	Two-hybrid
BioGRID:109338	BioGRID:112651	STAT3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:112783	TCEB1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109338	BioGRID:112785	TCEB2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109338	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109338	BioGRID:119239	UBXN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:117507	UBXN7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:116077	USP20	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:109338	BioGRID:113258	VCP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Protein-peptide; Reconstituted Complex
BioGRID:109338	BioGRID:133800	VHLL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:246987	Vhl	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:115470	ZNF197	BioGRID	PubMed	Affinity Capture-Western
	NC_000002.9		BIND	PubMed	HIF-1alpha interacts with MSH2 promoter.
	NC_000002.9		BIND	PubMed	HIF-1alpha interacts with MSH6 promoter.

Function	Evidence Code	Pubs
Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
histone acetyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
histone deacetylase binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	TAS Traceable Author Statement more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info
contributes_to sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
sequence-specific distal enhancer binding RNA polymerase II transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to sequence-specific distal enhancer binding RNA polymerase II transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
signal transducer activity	IEA Inferred from Electronic Annotation more info
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
B-1 B cell homeostasis	IEA Inferred from Electronic Annotation more info
cardiac ventricle morphogenesis	IEA Inferred from Electronic Annotation more info
cartilage development	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info
cellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
cellular response to hypoxia	IDA Inferred from Direct Assay more info
cellular response to hypoxia	IEP Inferred from Expression Pattern more info
cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
collagen metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
connective tissue replacement involved in inflammatory response wound healing	ISS Inferred from Sequence or Structural Similarity more info	PubMed
elastin metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
embryonic placenta development	IEA Inferred from Electronic Annotation more info
epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info	PubMed
glucose homeostasis	IEA Inferred from Electronic Annotation more info
heart looping	IEA Inferred from Electronic Annotation more info
hemoglobin biosynthetic process	IEA Inferred from Electronic Annotation more info
lactate metabolic process	IEA Inferred from Electronic Annotation more info
mRNA transcription from RNA polymerase II promoter	IC Inferred by Curator more info	PubMed
muscle cell homeostasis	IEA Inferred from Electronic Annotation more info
negative regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
negative regulation of growth	IEA Inferred from Electronic Annotation more info
negative regulation of mesenchymal cell apoptosis	IEA Inferred from Electronic Annotation more info
neural crest cell migration	IEA Inferred from Electronic Annotation more info
neural fold elevation formation	IEA Inferred from Electronic Annotation more info
outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
oxygen homeostasis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of angiogenesis	IC Inferred by Curator more info	PubMed
positive regulation of chemokine production	TAS Traceable Author Statement more info	PubMed
positive regulation of chemokine-mediated signaling pathway	IC Inferred by Curator more info	PubMed
positive regulation of endothelial cell proliferation	IC Inferred by Curator more info	PubMed
positive regulation of epithelial cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of erythrocyte differentiation	IC Inferred by Curator more info	PubMed
positive regulation of glycolysis	IC Inferred by Curator more info	PubMed
positive regulation of hormone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of nitric-oxide synthase activity	TAS Traceable Author Statement more info	PubMed
positive regulation of receptor biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info
positive regulation of vascular endothelial growth factor receptor signaling pathway	IC Inferred by Curator more info	PubMed
positive regulation vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
regulation of transforming growth factor beta2 production	IMP Inferred from Mutant Phenotype more info	PubMed
response to glucose stimulus	IEA Inferred from Electronic Annotation more info
response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
response to muscle activity	IEA Inferred from Electronic Annotation more info
signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
microtubule-based flagellum	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

Preferred Names: hypoxia-inducible factor 1-alpha

Names: hypoxia-inducible factor 1-alpha; HIF-1-alpha; member of PAS protein 1; ARNT interacting protein; ARNT-interacting protein; member of PAS superfamily 1; PAS domain-containing protein 8; basic-helix-loop-helix-PAS protein MOP1; class E basic helix-loop-helix protein 78; hypoxia-inducible factor 1 alpha isoform I.3; hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029606.1 RefSeqGene

Range

5001..57859

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243084.1 → NP_001230013.1 hypoxia-inducible factor 1-alpha isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate in-frame acceptor splice site at the next exon compared to variant 1. This results in a longer isoform (3, also known as isoform I.3) with a distinct N-terminus compared to isoform 1. This isoform is transcriptionally active, and is upregulated in activated human T lymphocytes (PMID:18638657).

Source sequence(s)

BC012527, CN264320, FJ790247, X72726

UniProtKB/TrEMBL

C0LZJ3

UniProtKB/Swiss-Prot

Q16665

Conserved Domains (5) summary

cd00130
Location:263 – 362
Blast Score: 173

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08778
Location:811 – 850
Blast Score: 198

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam08447
Location:278 – 363
Blast Score: 201

PAS_3; PAS fold

pfam11413
Location:573 – 602
Blast Score: 144

HIF-1; Hypoxia-inducible factor-1

cl00081
Location:61 – 92
Blast Score: 83

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
NM_001530.3 → NP_001521.1 hypoxia-inducible factor 1-alpha isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.

Source sequence(s)

BC012527, CN264295, DC344032

Consensus CDS

CCDS9753.1

UniProtKB/TrEMBL

D0VY79

UniProtKB/Swiss-Prot

Q16665

Related

ENSP00000338018, OTTHUMP00000179061, ENST00000337138, OTTHUMT00000276977

Conserved Domains (5) summary

cd00130
Location:239 – 338
Blast Score: 173

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08778
Location:787 – 826
Blast Score: 198

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam08447
Location:254 – 339
Blast Score: 202

PAS_3; PAS fold

pfam11413
Location:549 – 578
Blast Score: 143

HIF-1; Hypoxia-inducible factor-1

cl00081
Location:37 – 68
Blast Score: 84

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
NM_181054.2 → NP_851397.1 hypoxia-inducible factor 1-alpha isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks the penultimate coding exon compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AB073325, BC012527, CN264295, DC344032

Consensus CDS

CCDS9754.1

UniProtKB/Swiss-Prot

Q16665

Related

ENSP00000323326, OTTHUMP00000179062, ENST00000323441, OTTHUMT00000276978

Conserved Domains (4) summary

cd00130
Location:239 – 338
Blast Score: 173

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam08447
Location:254 – 339
Blast Score: 200

PAS_3; PAS fold

pfam11413
Location:549 – 578
Blast Score: 143

HIF-1; Hypoxia-inducible factor-1

cl00081
Location:37 – 68
Blast Score: 85

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

62162119..62214977

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

42326005..42378869

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF050127.1	AAC68568.1
genomic	AF208487.1	AAF20149.1
genomic	AL137129.4 (84762..137499)	None
genomic	CH471061.1	EAW80806.1
		EAW80807.1
		EAW80808.1
		EAW80809.1
mRNA	AB073325.1	BAB70608.1
mRNA	AB500182.1	BAI49183.1
mRNA	AF207601.1	AAF20139.1
mRNA	AF207602.1	AAF20140.1
mRNA	AF304431.1	AAG43026.1
mRNA	AJ227916.1	None
mRNA	AK093749.1	None
mRNA	AK296876.1	BAG59438.1
mRNA	AK299551.1	BAG61496.1
mRNA	AK304315.1	BAG65167.1
mRNA	AK304436.1	BAG65259.1
mRNA	AK312397.1	BAG35314.1
mRNA	AU123241.1	None
mRNA	BC012527.2	AAH12527.1
mRNA	BT009776.1	AAP88778.1
mRNA	BX648795.1	None
mRNA	CN264295.1	None
mRNA	CN264320.1	None
mRNA	DC344032.1	None
mRNA	FJ790247.1	ACN88547.1
mRNA	U22431.1	AAC50152.1
mRNA	U29165.1	AAC51210.1
mRNA	X72726.1	None