HIF1A hypoxia inducible factor 1 subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIF1Aprovided by HGNC
Official Full Name: hypoxia inducible factor 1 subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:4910
See related: Ensembl:ENSG00000100644 MIM:603348; AllianceGenome:HGNC:4910
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; HIF-1-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]
Expression: Broad expression in bone marrow (RPKM 164.2), gall bladder (RPKM 101.1) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q23.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (61695513..61748258)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (55902080..55954826)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (62162231..62214976)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitophagy mediated by HIF-1alpha/FUNDC1 signaling in tubular cells protects against renal ischemia/reperfusion injury.
Title: Mitophagy mediated by HIF-1α/FUNDC1 signaling in tubular cells protects against renal ischemia/reperfusion injury.
Expression of HIF-1alpha and Nestin in oral squamous cell carcinoma and its association with vasculogenic mimicry.
Title: Expression of HIF-1α and Nestin in oral squamous cell carcinoma and its association with vasculogenic mimicry.
The DUX4-HIF1alpha Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.
Title: The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.
IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions.
Title: IFI16 Is Indispensable for Promoting HIF-1α-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions.
HIF-1alpha Mediates Immunosuppression and Chemoresistance in Colorectal Cancer by Inhibiting CXCL9, -10 and -11.
Title: HIF-1α Mediates Immunosuppression and Chemoresistance in Colorectal Cancer by Inhibiting CXCL9, -10 and -11.
The Regulatory Mechanism of Hypoxia-inducible Factor 1 and its Clinical Significance.
Title: The Regulatory Mechanism of Hypoxia-inducible Factor 1 and its Clinical Significance.
HIF1A transcriptional regulation of COX4I2 impacts angiogenesis in pheochromocytoma.
Title: HIF1A transcriptional regulation of COX4I2 impacts angiogenesis in pheochromocytoma.
A reductionist perspective on HIF-1alpha's role in cell proliferation under non-hypoxic conditions.
Title: A reductionist perspective on HIF-1α's role in cell proliferation under non-hypoxic conditions.
The Relation of VEGFA, VEGFR2, VEGI, and HIF1A Genetic Variants and Their Serum Protein Levels with Breast Cancer in Egyptian Patients.
Title: The Relation of VEGFA, VEGFR2, VEGI, and HIF1A Genetic Variants and Their Serum Protein Levels with Breast Cancer in Egyptian Patients.
Canonical Wnt signaling promotes HSC glycolysis and liver fibrosis through an LDH-A/HIF-1alpha transcriptional complex.
Title: Canonical Wnt signaling promotes HSC glycolysis and liver fibrosis through an LDH-A/HIF-1α transcriptional complex.

Submit: New GeneRIF Correction See all GeneRIFs (3460)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with select biomarker traits in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Reactive oxygen species generation and activation of HIF-1alpha plays a critical role in HIV-1 gp120-mediated upregulation of PDGF-BB in human primary pulmonary arterial endothelial cells	PubMed
Vpr	vpr	Activation of the HIV-1 LTR by HIV-1 Vpr is HIF-1alpha 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 Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables E-box binding	IEA Inferred from Electronic Annotation more info
enables Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables p53 binding	EXP Inferred from Experiment more info	PubMed
enables p53 binding	IDA Inferred from Direct Assay more info	PubMed
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription regulator activator activity	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	EXP Inferred from Experiment more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B-1 B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in TOR signaling	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in axonal transport of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in cardiac ventricle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in collagen metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in connective tissue replacement involved in inflammatory response wound healing	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in elastin metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic placenta development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation involved in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in glandular epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in heart looping	IEA Inferred from Electronic Annotation more info
involved_in hemoglobin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hypoxia-inducible factor-1alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in intestinal epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in intracellular glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular oxygen homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in iris morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in lactate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lactation	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TOR signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of thymocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neural crest cell migration	IEA Inferred from Electronic Annotation more info
involved_in neural fold elevation formation	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IC Inferred by Curator more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chemokine production	TAS Traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of chemokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell proliferation	IC Inferred by Curator more info	PubMed
involved_in positive regulation of epithelial cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of erythrocyte differentiation	IC Inferred by Curator more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hormone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitophagy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nitric-oxide synthase activity	TAS Traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of signaling receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial growth factor receptor signaling pathway	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of aerobic respiration	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein neddylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transforming growth factor beta2 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to iron ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in retina vasculature development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of euchromatin	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: hypoxia-inducible factor 1-alpha

Names: ARNT interacting protein; 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 subunit; hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor); hypoxia-inducible factor1alpha; member of PAS protein 1; member of PAS superfamily 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

5113..57858

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243084.2 → NP_001230013.1 hypoxia-inducible factor 1-alpha isoform 3

See identical proteins and their annotated locations for NP_001230013.1

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

B2R617

Related

ENSP00000437955.1, ENST00000539097.2

Conserved Domains (5) summary

smart00091
Location:117 → 172

PAS; PAS domain

cd19727
Location:37 → 107

bHLH-PAS_HIF1a_PASD8; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins

pfam08447
Location:278 → 363

PAS_3; PAS fold

pfam08778
Location:813 → 849

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

pfam11413
Location:575 → 605

HIF-1; Hypoxia-inducible factor-1
NM_001530.4 → NP_001521.1 hypoxia-inducible factor 1-alpha isoform 1

See identical proteins and their annotated locations for NP_001521.1

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/Swiss-Prot

C0LZJ3, Q16665, Q53XP6, Q96PT9, Q9UPB1

UniProtKB/TrEMBL

B2R617, D0VY79

Related

ENSP00000338018.4, ENST00000337138.9

Conserved Domains (5) summary

smart00091
Location:93 → 148

PAS; PAS domain

cd00083
Location:15 → 68

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, ...

pfam08778
Location:789 → 825

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

pfam08447
Location:254 → 339

PAS_3; PAS fold

pfam11413
Location:552 → 581

HIF-1; Hypoxia-inducible factor-1
NM_181054.3 → NP_851397.1 hypoxia-inducible factor 1-alpha isoform 2

See identical proteins and their annotated locations for NP_851397.1

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/TrEMBL

B4DL76

Related

ENSP00000323326.6, ENST00000323441.10

Conserved Domains (4) summary

smart00091
Location:93 → 148

PAS; PAS domain

pfam08447
Location:254 → 339

PAS_3; PAS fold

cd19727
Location:13 → 83

bHLH-PAS_HIF1a_PASD8; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 1-alpha (HIF1a) and similar proteins

pfam11413
Location:554 → 581

HIF-1; Hypoxia-inducible factor-1