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

Gene ID: 3091, updated on 19-May-2013

Summary

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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; HIF-1A; 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]

Genomic context

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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

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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

hypoxia-inducible factor-1alpha (HIF-1alpha) has a radiation protective effect on human oral squamous cell carcinoma cell lines
Title: Radiation protective effect of hypoxia-inducible factor-1α (HIF-1α) on human oral squamous cell carcinoma cell lines.
The hypoxia-mediated HIF-1alpha-dependent up-regulation of NRP-1 is a critical molecular event involved in the vasculogenic mimicry and tumor formation by fibrosarcoma cells in vivo.
Title: Vasculogenic mimicry of HT1080 tumour cells in vivo: critical role of HIF-1α-neuropilin-1 axis.
these findings show for the first time a direct link between TG2, NF-kappaB, and HIF-1alpha, demonstrating TG2's important role in cancer progression.
Title: Tissue transglutaminase constitutively activates HIF-1α promoter and nuclear factor-κB via a non-canonical pathway.
Data suggest that, in preeclampsia, HIF1a is overexpressed in placenta which results in upregulation of sFLT-1 (soluble vascular endothelial growth factor receptor-1), sENG (soluble endoglin), and endothelin-1. [REVIEW]
Title: The role of hypoxia and hypoxia-inducible factor-1alpha in preeclampsia pathogenesis.
HIF-1alpha and microlymphatic vessel density play important roles in the development of rectal cancer,which may promote lymphatic micrometastasis.
Title: [Association of hypoxia-inducible factor 1α expression with microlymphatic vessel density and lymph node micrometastasis in rectal cancer].
CoCl(2) dose- and time-dependently increases the expression of HIF-1alpha, and significantly inhibits the proliferation of HL-60 cells.
Title: [Effect of hypoxia on the proliferation and hypoxia inducible factor-1α expression in human leukemia HL-60 cells].
Hyperbaric oxygenation combined with As(2)O(3) can increase the expression of caspase 3 mRNA and decrease the expression of HIF-1a and VEGF mRNA in K562 cells.
Title: [Effects of hyperbaric oxygenation combined with As(2)O(3) on proliferation of K562 cells and associated mechanism].
The HIF1alpha-mediated hypoxic signal pathway contributes to MUC17 expression, and DNA methylation of hypoxia responsive element could be a determinant of the hypoxic inducibility of MUC17 in pancreatic cancer cells.
Title: Expression of MUC17 is regulated by HIF1α-mediated hypoxic responses and requires a methylation-free hypoxia responsible element in pancreatic cancer.
HIF-1alpha overexpression indicated unfavourable prognosis and could serve as an additional prognostic factor in neuroendocrine breast cancer.
Title: Immunohistochemical expression and prognostic significance of HIF-1α and VEGF-C in neuroendocrine breast cancer.
Atypical osteoclast HIF-driven metabolic pathway may be an adaptive mechanism to permit rapid bone resorption in the short term while ensuring curtailment of the process in the absence of re-oxygenation.
Title: Differential regulation of HIF-mediated pathways increases mitochondrial metabolism and ATP production in hypoxic osteoclasts.

Submit: New GeneRIF Correction See all (1350)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

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

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Reactive oxygen species generation and activation of HIF-1a plays a critical role in HIV-1 gp120-mediated upregulation of PDGF-BB in human primary pulmonary arterial endothelial cells	PubMed
Vpr, p15	vpr	Activation of the HIV-1 LTR by HIV-1 Vpr is HIF-1a dependent	PubMed
	vpr	HIV-1 Vpr induces HIF-1alpha expression, which involves the presence of Sp1 and the p65 subunit of NFkappaB transcription factors	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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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:198207	Arntl	BioGRID	PubMed	Two-hybrid
BioGRID:109338	BioGRID:120308	BANP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109338	BioGRID:107068	BCL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107083	BCR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:122654	BHLHE41	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107273	CAPN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107432	CDC34	BioGRID	PubMed	Biochemical Activity
	Z85996.1	CDKN1A	BIND	PubMed	HIF-1alpha interacts with CDKN1A promoter.
BioGRID:109338	BioGRID:107463	CDKN2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:127317	COMMD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
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:205030	Cops5	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109338	BioGRID:113587	DAP3	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:119920	DCUN1D1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:109569	DNAJB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; 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; Two-hybrid
BioGRID:109338	BioGRID:108348	EPAS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109338	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109338	BioGRID:108459	F12	BioGRID	PubMed	Affinity Capture-Western
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; Negative Genetic; Reconstituted Complex
BioGRID:109338	BioGRID:109316	HDAC2	BioGRID	PubMed	Reconstituted Complex
BioGRID:109338	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western; Negative Genetic; 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:119613	HDAC7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:115083	HDAC9	BioGRID	PubMed	Negative Genetic
BioGRID:109338	BioGRID:120794	HIF1AN	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:109338	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:109558	HSP90AB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
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:114375	KAT2B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:120927	KDM3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:110114	LAMP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:110272	MAFG	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:109338	BioGRID:113688	MAFK	BioGRID	PubMed	Reconstituted Complex
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; Two-hybrid
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:110772	NDN	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109338	BioGRID:110815	NEDD8	BioGRID	PubMed	Affinity Capture-Western
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:113497	PCGF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:111332	PKM	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
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:115952	PTGES3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:202111	Per1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:111824	RAD23B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:115301	RBX1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:111902	RELA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:121582	RPTOR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:107308	RUNX2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:116067	RUVBL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:117445	RWDD3	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:110263	SMAD3	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
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-Luminescence; Affinity Capture-Western; Reconstituted Complex
BioGRID:109338	BioGRID:112592	SRC	BioGRID	PubMed	Co-localization
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; Affinity Capture-Western
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:113169	UBE2D1	BioGRID	PubMed	Biochemical Activity
BioGRID:109338	BioGRID:119239	UBXN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:117507	UBXN7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109338	BioGRID:116078	USP19	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
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; Far Western; PCA; Protein-peptide; Reconstituted Complex; Two-hybrid
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.

Pathways from BioSystems

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AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
Adipogenesis, organism-specific biosystem (from WikiPathways)
Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
Angiogenesis, organism-specific biosystem (from WikiPathways)
Angiogenesis, organism-specific biosystemThis pathway is a concise and simplified version of the basic proteins involved in angiogenesis. The proces is regulated by hyopoxia, which results in the transcription of eg. VEGF1, FGF2, PDGFbeta, ...
Cellular response to hypoxia, organism-specific biosystem (from REACTOME)
Cellular response to hypoxia, organism-specific biosystemOxygen plays a central role in the functioning of human cells: it is both essential for normal metabolism and toxic. To begin the annotation of stress responses in Reactome, we have annotated one asp...
Cellular responses to stress, organism-specific biosystem (from REACTOME)
Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
Circadian Clock, organism-specific biosystem (from REACTOME)
Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 heterodimer transactivates CRY and PER genes by binding E-box element...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystemFBXW7 (FBW7) is a component of the SCF (SKP1, CUL1, and F-box protein) ubiquitin ligase complex SCF-FBW7 which is involved in the degradation of NOTCH1 (Oberg et al. 2001, Wu et al. 2001, Fryer et al...
HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
HIF-1-alpha transcription factor network, organism-specific biosystem
HIF-1-alpha transcription factor network
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem (from Pathway Interaction Database)
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha, organism-specific biosystem
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
Notch-mediated HES/HEY network, organism-specific biosystem
Notch-mediated HES/HEY network
Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
Oxygen-dependent Asparagine Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF1AN (FIH, FIH-1) forms a homodimer that hydroxylates an asparagine residue on HIF1A and HIF2A (Hewitson et al. 2002, Lando et al. 2002, Metzen et al. 2003, Lancaster et al. 2004). The hydroxylatio...
Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystem (from REACTOME)
Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha, organism-specific biosystemHIF-alpha subunits, comprising HIF1A (Bruick and McKnight 2001, Ivan et al. 2001, Jaakkola et al. 2001), HIF2A (Percy et al. 2008, Furlow et al. 2009), and HIF3A (Maynard et al. 2003), are hydroxylat...
PDGFR-beta signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
PDGFR-beta signaling pathway, organism-specific biosystem
PDGFR-beta signaling pathway
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Proteoglycans in cancer, organism-specific biosystem (from KEGG)
Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
Proteoglycans in cancer, conserved biosystem (from KEGG)
Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
Regulation of Gene Expression by Hypoxia-inducible Factor, organism-specific biosystem (from REACTOME)
Regulation of Gene Expression by Hypoxia-inducible Factor, organism-specific biosystemHIF-alpha (HIF1A, HIF2A (EPAS1), HIF3A) is translocated to the nucleus, possibly by two pathways: importin 4/7 (Chachami et al. 2009) and importin alpha/beta (Depping et al. 2008). Once in the nucleu...
Regulation of Hypoxia-inducible Factor (HIF) by Oxygen, organism-specific biosystem (from REACTOME)
Regulation of Hypoxia-inducible Factor (HIF) by Oxygen, organism-specific biosystemIn the presence of oxygen members of the transcription factor family HIF-alpha, comprising HIF1A, HIF2A (EPAS1), and HIF3A, are hydroxylated on proline residues by PHD1 (EGLN2), PHD2 (EGLN1), and PHD...
Renal cell carcinoma, organism-specific biosystem (from KEGG)
Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Renal cell carcinoma, conserved biosystem (from KEGG)
Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by NOTCH, organism-specific biosystem (from REACTOME)
Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem
Signaling events mediated by VEGFR1 and VEGFR2
VEGFR1 specific signals, organism-specific biosystem (from Pathway Interaction Database)
VEGFR1 specific signals, organism-specific biosystem
VEGFR1 specific signals
mTOR signaling pathway, organism-specific biosystem (from KEGG)
mTOR signaling pathway, organism-specific biosystem
mTOR signaling pathway
mTOR signaling pathway, conserved biosystem (from KEGG)
mTOR signaling pathway, conserved biosystem
mTOR signaling pathway

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

HIF1A (e-PCR)
- UniSTS:511803

D14S87E (e-PCR)
- UniSTS:147519

RH70592 (e-PCR)
- UniSTS:32832

MARC_6691-6694:992007331:1 (e-PCR)
- UniSTS:231249

MARC_6693-6692:992007336:1 (e-PCR)
- UniSTS:231250

G35879 (e-PCR)
- UniSTS:25950

D15S1477 (e-PCR)
- UniSTS:474482

GDB:198178 (e-PCR)
- UniSTS:156030

D11S3114 (e-PCR)
- UniSTS:152207

PMC212228P1 (e-PCR)
- UniSTS:272018

PMC212228P2 (e-PCR)
- UniSTS:272019

PMC212228P3 (e-PCR)
- UniSTS:272020

L17877 (e-PCR)
- UniSTS:61334

SHGC-32981 (e-PCR)
- UniSTS:68512

SGC35483 (e-PCR)
- UniSTS:72875

MARC_11585-11586:1002657151:1 (e-PCR)
- UniSTS:267233

MARC_11585-11586:1007154223:1 (e-PCR)
- UniSTS:267233

D14S87E (e-PCR)
- UniSTS:147452

HIF1A (e-PCR)
- UniSTS:278524

SHGC-83122 (e-PCR)
- UniSTS:101119

Genotypes

See HIF1A SNP Geneview Report
See HIF1A SNP Genotype Report
See HIF1A SNP Variation Viewer Report

Homology

Homologs of the HIF1A gene: The HIF1A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and fruit fly.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IEA Inferred from Electronic Annotation more info
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enzyme binding	IPI Inferred from Physical Interaction 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 binding transcription factor activity	IDA Inferred from Direct Assay more info
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
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
ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
B-1 B cell homeostasis	IEA Inferred from Electronic Annotation more info
Notch signaling pathway	TAS Traceable Author Statement more info
angiogenesis	IEA Inferred from Electronic Annotation more info
axon transport of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac ventricle morphogenesis	IEA Inferred from Electronic Annotation more info
cartilage development	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	PubMed
cellular response to hypoxia	IEP Inferred from Expression Pattern more info
cellular response to hypoxia	TAS Traceable Author Statement more info
cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
cellular response to stress	TAS Traceable Author Statement more info
cerebral cortex development	IEA Inferred from Electronic Annotation more info
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
digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
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 cell differentiation involved in mammary gland alveolus 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
intestinal epithelial cell maturation	IEA Inferred from Electronic Annotation more info
lactate metabolic process	IEA Inferred from Electronic Annotation more info
lactation	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 TOR signaling cascade	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 apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptotic process	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 insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
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 transcription from RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IDA Inferred from Direct Assay more info
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	IMP Inferred from Mutant Phenotype 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 gene expression	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS Traceable Author Statement more info
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 transforming growth factor beta2 production	IMP Inferred from Mutant Phenotype more info	PubMed
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
retina vasculature development in camera-type eye	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
visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
nucleolus	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info
transcription factor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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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; hypoxia-inducible factor1alpha; 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)

NCBI Reference Sequences (RefSeq)

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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

Consensus CDS

CCDS58324.1

UniProtKB/Swiss-Prot

Q16665

Related

ENSP00000437955, ENST00000539097

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

smart00353
Location:61 – 92
Blast Score: 83

HLH; helix loop helix 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
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

smart00353
Location:37 – 68
Blast Score: 84

HLH; helix loop helix 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
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 ...

smart00353
Location:37 – 68
Blast Score: 85

HLH; helix loop helix domain

pfam08447
Location:254 – 339
Blast Score: 200

PAS_3; PAS fold

pfam11413
Location:549 – 578
Blast Score: 143

HIF-1; Hypoxia-inducible factor-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p10 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)

Alternate CHM1_1.0

Genomic

NC_018925.1 Alternate CHM1_1.0

Range

43146939..43199875

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01018302.1 (74490..127354)	None
genomic	AF050127.1	AAC68568.1
genomic	AF208487.1	AAF20149.1
genomic	AL137129.4 (84763..137500)	None
genomic	AMYH01005776.1 (281989..326651)	None
genomic	AMYH01005777.1	None
genomic	CH471061.1	EAW80806.1
		EAW80807.1
		EAW80808.1
		EAW80809.1
mRNA	AB073325.1	BAB70608.1
mRNA	AB500182.1	BAI49183.1
mRNA	AB733094.1	BAM28632.1
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