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

Gene ID: 55662, updated on 13-Nov-2022

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
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Genomic context

See HIF1AN in Genome Data Viewer
Location:
10q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100535943..100559998)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101419030..101443061)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102295700..102319755)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SEC31 homolog B, COPII coat complex component Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 Neighboring gene paired box 2 Neighboring gene VISTA enhancer hs229 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:102649745-102650944

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20615, FLJ22027, DKFZp762F1811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-oxoglutarate-dependent dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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
XP_011538242.1

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)

  1. NM_017902.3NP_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
    Q9NPV5, Q9NWT6
    Related
    ENSP00000299163.4, ENST00000299163.7
    Conserved Domains (1) summary
    pfam13621
    Location:53297
    Cupin_8; Cupin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    100535943..100559998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam13621
    Location:80317
    Cupin_8; Cupin-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    101419030..101443061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)