HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIF1ANprovided by HGNC
Official Full Name: hypoxia inducible factor 1 subunit alpha inhibitorprovided by HGNC
Primary source: HGNC:HGNC:17113
See related: Ensembl:ENSG00000166135 MIM:606615; AllianceGenome:HGNC:17113
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FIH1
Summary: Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in several processes, including negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; and protein hydroxylation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 12.2), skin (RPKM 8.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (100535943..100559998)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (101419020..101443061)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (102295700..102319755)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.
Title: Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.
The Asparagine Hydroxylase FIH: A Unique Oxygen Sensor.
Title: The Asparagine Hydroxylase FIH: A Unique Oxygen Sensor.
Factor inhibiting HIF can catalyze two asparaginyl hydroxylations in VNVN motifs of ankyrin fold proteins.
Title: Factor inhibiting HIF can catalyze two asparaginyl hydroxylations in VNVN motifs of ankyrin fold proteins.
High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.
Title: High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases.
TMEM161B-AS1 suppresses proliferation, invasion and glycolysis by targeting miR-23a-3p/HIF1AN signal axis in oesophageal squamous cell carcinoma.
Title: TMEM161B-AS1 suppresses proliferation, invasion and glycolysis by targeting miR-23a-3p/HIF1AN signal axis in oesophageal squamous cell carcinoma.
CASC2 inhibits the growth, migration, and invasion of thyroid cancer cells through sponging miR-18a-5p/FIH1 axis.
Title: CASC2 inhibits the growth, migration, and invasion of thyroid cancer cells through sponging miR-18a-5p/FIH1 axis.
miR212 promotes renal interstitial fibrosis by inhibiting hypoxiainducible factor 1alpha inhibitor.
Title: miR‑212 promotes renal interstitial fibrosis by inhibiting hypoxia‑inducible factor 1‑α inhibitor.
Authors provide evidence, based on the application of genetic interventions and small molecule inhibition of the HIF hydroxylases, that the nuclear localization of FIH is governed by two opposing processes: nuclear entry by 'coupling' with HIF1alpha for importin beta1-mediated nuclear import and active export via a Leptomycin B-sensitive exportin1-dependent pathway.
Title: Nuclear entry and export of FIH are mediated by HIF1α and exportin1, respectively.
Low FIH expression is associated with lung cancer.
Title: MicroRNA-31-5p enhances the Warburg effect via targeting FIH.
ANKDD1A directly interacts with FIH1 and inhibits the transcriptional activity of HIF1alpha by upregulating FIH1. ANKDD1A decreases the half-life of HIF1alpha by upregulating FIH1, decreases glucose uptake and lactate production, inhibits glioblastoma multiforme (GBM) autophagy, and induces apoptosis in GBM cells under hypoxia
Title: Hypermethylated gene ANKDD1A is a candidate tumor suppressor that interacts with FIH1 and decreases HIF1α stability to inhibit cell autophagy in the glioblastoma multiforme hypoxia microenvironment.

Submit: New GeneRIF Correction See all GeneRIFs (74)

Phenotypes

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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 study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_15337-15338:1017677542:1 (e-PCR)
- UniSTS:267817

MARC_15337-15338:1027969576:1 (e-PCR)
- UniSTS:267817

A007K11 (e-PCR)
- UniSTS:77353

HIF1AN_3604 (e-PCR)
- UniSTS:462242

STS-W37897 (e-PCR)
- UniSTS:82102

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables [protein]-asparagine 3-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables [protein]-asparagine 3-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables [protein]-asparagine 3-dioxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ankyrin repeat binding	IBA Inferred from Biological aspect of Ancestor more info
enables ankyrin repeat binding	IPI Inferred from Physical Interaction more info	PubMed
enables carboxylic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed
enables oxygen sensor activity	NAS Non-traceable Author Statement more info	PubMed
enables peptidyl-aspartic acid 3-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-histidine dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-histidine dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vasculogenesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
colocalizes_with nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hypoxia-inducible factor 1-alpha inhibitor

Names: FIH-1; factor inhibiting HIF-1; factor inhibiting HIF1; hypoxia inducible factor 1 alpha subunit inhibitor; hypoxia-inducible factor asparagine hydroxylase; peptide-aspartate beta-dioxygenase

NP_060372.2

EC 1.14.11.30

EC 1.14.11.n4

XP_011538242.1

EC 1.14.11.30

EC 1.14.11.n4

XP_054222224.1

EC 1.14.11.30

EC 1.14.11.n4

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.

mRNA and Protein(s)

NM_017902.3 → NP_060372.2 hypoxia-inducible factor 1-alpha inhibitor

See identical proteins and their annotated locations for NP_060372.2

Status: VALIDATED

Source sequence(s)

AF395830, AL133352, AW015561

Consensus CDS

CCDS7498.1

UniProtKB/Swiss-Prot

D3DR69, Q5W147, Q969Q7, Q9NPV5, Q9NWT6

UniProtKB/TrEMBL

B4DI08

Related

ENSP00000299163.4, ENST00000299163.7

Conserved Domains (1) summary

pfam13621
Location:53 → 297

Cupin_8; Cupin-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

100535943..100559998

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539940.3 → XP_011538242.1 hypoxia-inducible factor 1-alpha inhibitor isoform X1

UniProtKB/TrEMBL

B4DI08

Conserved Domains (1) summary

pfam13621
Location:80 → 317

Cupin_8; Cupin-like domain