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

Gene ID: 55662, updated on 13-Jan-2019

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
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
Expression
Ubiquitous expression in testis (RPKM 12.2), skin (RPKM 8.6) and 25 other tissues See more
Orthologs

Genomic context

See HIF1AN in Genome Data Viewer
Location:
10q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (100535884..100553924)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102295641..102313681)

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 Sharpr-MPRA regulatory region 13917

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI 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
NHGRI GWA Catalog

Pathways from BioSystems

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
NF-kappaB binding IPI
Inferred from Physical Interaction
more info
PubMed 
Notch binding IPI
Inferred from Physical Interaction
more info
PubMed 
ankyrin repeat binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ankyrin repeat binding IPI
Inferred from Physical Interaction
more info
PubMed 
carboxylic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
hypoxia-inducible factor-asparagine oxygenase activity IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors EXP
Inferred from Experiment
more info
PubMed 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen sensor activity NAS
Non-traceable Author Statement
more info
PubMed 
peptidyl-asparagine 3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-asparagine 3-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-asparagine 3-dioxygenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-histidine dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-histidine dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
negative regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter in response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-asparagine hydroxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-asparagine hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-asparagine hydroxylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-aspartic acid hydroxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-aspartic acid hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-histidine hydroxylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-histidine hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vasculogenesis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
XP_011538243.1

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.

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
    Q9NWT6
    Related
    ENSP00000299163.4, ENST00000299163.6
    Conserved Domains (1) summary
    pfam13621
    Location:53297
    Cupin_8; Cupin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    100535884..100553924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539941.1XP_011538243.1  hypoxia-inducible factor 1-alpha inhibitor isoform X2

    Conserved Domains (1) summary
    pfam13621
    Location:3190
    Cupin_8; Cupin-like domain
  2. XM_011539940.2XP_011538242.1  hypoxia-inducible factor 1-alpha inhibitor isoform X1

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