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Aliases for HIF1AN Gene

Aliases for HIF1AN Gene

  • Hypoxia Inducible Factor 1, Alpha Subunit Inhibitor 2 3
  • FIH1 3 4 6
  • Hypoxia-Inducible Factor Asparagine Hydroxylase 3 4
  • Peptide-Aspartate Beta-Dioxygenase 2 3
  • Factor Inhibiting HIF-1 3 4
  • FIH-1 3 4
  • Hypoxia-Inducible Factor 1-Alpha Inhibitor 3
  • Factor Inhibiting HIF1 3
  • EC 1.14.11.30 4
  • EC 1.14.11.n4 4

External Ids for HIF1AN Gene

Summaries for HIF1AN Gene

GeneCards Summary for HIF1AN Gene

HIF1AN (Hypoxia Inducible Factor 1, Alpha Subunit Inhibitor) is a Protein Coding gene. Diseases associated with HIF1AN include hypoxia. Among its related pathways are Angiogenesis (CST) and Cellular Senescence. GO annotations related to this gene include protein homodimerization activity and NF-kappaB binding. An important paralog of this gene is HSPBAP1.

UniProtKB/Swiss-Prot for HIF1AN Gene

  • Hydroxylates HIF-1 alpha at Asp-803 in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation.

Gene Wiki entry for HIF1AN Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIF1AN Gene

Genomics for HIF1AN Gene

Genomic Location for HIF1AN Gene

Start:
100,529,072 bp from pter
End:
100,559,998 bp from pter
Size:
30,927 bases
Orientation:
Plus strand

Genomic View for HIF1AN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HIF1AN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIF1AN Gene

Regulatory Elements for HIF1AN Gene

Proteins for HIF1AN Gene

  • Protein details for HIF1AN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWT6-HIF1N_HUMAN
    Recommended name:
    Hypoxia-inducible factor 1-alpha inhibitor
    Protein Accession:
    Q9NWT6
    Secondary Accessions:
    • D3DR69
    • Q5W147
    • Q969Q7
    • Q9NPV5

    Protein attributes for HIF1AN Gene

    Size:
    349 amino acids
    Molecular mass:
    40285 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Homodimer; homodimerization is essential for catalytic activity. Interacts with VHL and HIF1A. Part of a complex with VHL, HIF1A and HDAC1 or HDAC2 or HDAC3. Interacts with NFKB1 and NFKBIA. Interacts with NOTCH1, NOTCH2 and NOTCH3 but not with NOTCH4. Interacts with APBA3; binding inhibits HIF1AN binding to HIF1A. Interacts with TNKS2. Interacts with PPP1R12A. Interacts with ASB4 (By similarity). Interacts with UBE3A. Interacts with ANKS3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for HIF1AN Gene

neXtProt entry for HIF1AN Gene

Proteomics data for HIF1AN Gene at MOPED

Post-translational modifications for HIF1AN Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys115 and Lys131

Other Protein References for HIF1AN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HIF1AN Gene

Domains for HIF1AN Gene

Protein Domains for HIF1AN Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

HIF1N_HUMAN
Domain:
  • Contains 1 JmjC domain.:
    • Q9NWT6
genes like me logo Genes that share domains with HIF1AN: view

No data available for Gene Families for HIF1AN Gene

Function for HIF1AN Gene

Molecular function for HIF1AN Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=100 uM for HIF1A (788-822) peptide {ECO:0000269 PubMed:14701857}; KM=160 uM for HIF2A (832-866) peptide {ECO:0000269 PubMed:14701857}; KM=0.5 uM for Fe(2+) {ECO:0000269 PubMed:14701857}; KM=25 uM for 2-oxoglutarate {ECO:0000269 PubMed:14701857}; KM=260 uM for ascorbate {ECO:0000269 PubMed:14701857}; KM=90 uM for O(2) {ECO:0000269 PubMed:14701857}; Note=The kinetic constants are determined for the recombinant FLAG-His-tagged protein.;
UniProtKB/Swiss-Prot CatalyticActivity: Hypoxia-inducible factor-L-asparagine + 2-oxoglutarate + O(2) = hypoxia-inducible factor-(3S)-3-hydroxy-L-asparagine + succinate + CO(2)
UniProtKB/Swiss-Prot CatalyticActivity: Ankyrin-repeat-L-histidine + 2-oxoglutarate + O(2) = ankyrin-repeat-(3S)-3-hydroxy-L-histidine + succinate + CO(2)
UniProtKB/Swiss-Prot Function: Hydroxylates HIF-1 alpha at Asp-803 in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation.

Enzyme Numbers (IUBMB) for HIF1AN Gene

Gene Ontology (GO) - Molecular Function for HIF1AN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IPI 17573339
GO:0005506 iron ion binding IDA 12446723
GO:0005515 protein binding IPI 11641274
GO:0008270 zinc ion binding IDA 12446723
GO:0016706 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 --
genes like me logo Genes that share ontologies with HIF1AN: view
genes like me logo Genes that share phenotypes with HIF1AN: view

Animal Models for HIF1AN Gene

MGI Knock Outs for HIF1AN:

No data available for Transcription Factor Targeting and HOMER Transcription for HIF1AN Gene

Localization for HIF1AN Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIF1AN Gene

Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly cytoplasmic localization, but interaction with NOTCH1 results in nuclear localization and interaction with ABPA3 results in perinuclear localization in macrophages.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HIF1AN Gene COMPARTMENTS Subcellular localization image for HIF1AN gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HIF1AN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 colocalizes_with nucleus IDA 18299578
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IDA 19726677
genes like me logo Genes that share ontologies with HIF1AN: view

Pathways for HIF1AN Gene

genes like me logo Genes that share pathways with HIF1AN: view

Gene Ontology (GO) - Biological Process for HIF1AN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0036138 peptidyl-histidine hydroxylation IDA 21251231
GO:0042264 peptidyl-aspartic acid hydroxylation IDA 21177872
GO:0042265 peptidyl-asparagine hydroxylation IMP 19245366
GO:0045663 positive regulation of myoblast differentiation IDA 18299578
genes like me logo Genes that share ontologies with HIF1AN: view

Compounds for HIF1AN Gene

(5) HMDB Compounds for HIF1AN Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Iron
  • Armco iron
7439-89-6
Oxoglutaric acid
  • 2-Ketoglutarate
328-50-7
Oxygen
  • Oxygen
7782-44-7
Succinic acid
  • 1,2-Ethanedicarboxylate
110-15-6

(2) Drugbank Compounds for HIF1AN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
D-tartaric acid
  • (-)-Tartaric acid
147-71-7 target
N-(CARBOXYCARBONYL)-D-PHENYLALANINE
target

(7) Novoseek inferred chemical compound relationships for HIF1AN Gene

Compound -log(P) Hits PubMed IDs
alpha-ketoglutarate 77.2 5
asparagine 76 11
proline 55.4 4
oxygen 33 9
cobalt 30.6 1
genes like me logo Genes that share compounds with HIF1AN: view

Transcripts for HIF1AN Gene

Unigene Clusters for HIF1AN Gene

Hypoxia inducible factor 1, alpha subunit inhibitor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HIF1AN Gene

No ASD Table

Relevant External Links for HIF1AN Gene

GeneLoc Exon Structure for
HIF1AN
ECgene alternative splicing isoforms for
HIF1AN

Expression for HIF1AN Gene

mRNA expression in normal human tissues for HIF1AN Gene

mRNA differential expression in normal tissues according to GTEx for HIF1AN Gene

This gene is overexpressed in Muscle - Skeletal (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HIF1AN Gene

SOURCE GeneReport for Unigene cluster for HIF1AN Gene Hs.500788

genes like me logo Genes that share expressions with HIF1AN: view

Orthologs for HIF1AN Gene

This gene was present in the common ancestor of chordates.

Orthologs for HIF1AN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIF1AN 36
  • 99.81 (n)
  • 99.71 (a)
HIF1AN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIF1AN 36
  • 93.87 (n)
  • 98.22 (a)
HIF1AN 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIF1AN 36
  • 94.46 (n)
  • 97.42 (a)
HIF1AN 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hif1an 36
  • 91.12 (n)
  • 97.13 (a)
Hif1an 16
Hif1an 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HIF1AN 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIF1AN 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hif1an 36
  • 91.12 (n)
  • 97.13 (a)
chicken
(Gallus gallus)
Aves HIF1AN 36
  • 80.83 (n)
  • 89.68 (a)
HIF1AN 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIF1AN 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hif1an 36
  • 77.44 (n)
  • 87.01 (a)
MGC76135 36
zebrafish
(Danio rerio)
Actinopterygii Dr.13371 36
hif1an 36
  • 75.08 (n)
  • 84.31 (a)
hif1an 37
  • 80 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13324 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 57 (a)
OneToOne
Species with no ortholog for HIF1AN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HIF1AN Gene

ENSEMBL:
Gene Tree for HIF1AN (if available)
TreeFam:
Gene Tree for HIF1AN (if available)

Paralogs for HIF1AN Gene

Paralogs for HIF1AN Gene

genes like me logo Genes that share paralogs with HIF1AN: view

Variants for HIF1AN Gene

Sequence variations from dbSNP and Humsavar for HIF1AN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs11292 -- 100,553,850(-) CATTG(C/T)TTCAG utr-variant-3-prime
rs1044906 -- 100,549,926(+) GGGTT(C/T)TCTGA utr-variant-3-prime
rs1044908 -- 100,549,928(+) GTTCT(C/T)TGATG utr-variant-3-prime
rs1054399 -- 100,552,808(+) TTTTG(C/T)CCATG utr-variant-3-prime
rs1057806 -- 100,548,353(+) GCCCC(A/T)GCACC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HIF1AN Gene

Variant ID Type Subtype PubMed ID
essv24916 CNV CNV 17122850
nsv831962 CNV Gain 17160897
dgv811n71 CNV Loss 21882294
nsv831963 CNV Loss 17160897
nsv895957 CNV Gain 21882294
nsv7519 CNV Insertion 18451855

Relevant External Links for HIF1AN Gene

HapMap Linkage Disequilibrium report
HIF1AN
Human Gene Mutation Database (HGMD)
HIF1AN

Disorders for HIF1AN Gene

(1) MalaCards Diseases for HIF1AN Gene

Search for HIF1AN Gene in MalaCards »

(2) Novoseek inferred disease relationships for HIF1AN Gene

Disease -log(P) Hits PubMed IDs
carcinoma renal cell 36.1 1
tumors 7.78 1

Relevant External Links for HIF1AN

Genetic Association Database (GAD)
HIF1AN
Human Genome Epidemiology (HuGE) Navigator
HIF1AN
genes like me logo Genes that share disorders with HIF1AN: view

No data available for UniProtKB/Swiss-Prot for HIF1AN Gene

Publications for HIF1AN Gene

  1. FIH-1: a novel protein that interacts with HIF-1alpha and VHL to mediate repression of HIF-1 transcriptional activity. (PMID: 11641274) Mahon P.C. … Semenza G.L. (Genes Dev. 2001) 2 3 4 23
  2. Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways. (PMID: 18299578) Zheng X. … Poellinger L. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4 23
  3. Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1. (PMID: 19726677) Sakamoto T. … Seiki M. (J. Biol. Chem. 2009) 3 4 23
  4. Structure of factor-inhibiting hypoxia-inducible factor 1: an asparaginyl hydroxylase involved in the hypoxic response pathway. (PMID: 12432100) Dann C.E. III … Deisenhofer J. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  5. Structure of human FIH-1 reveals a unique active site pocket and interaction sites for HIF-1 and von Hippel-Lindau. (PMID: 12482756) Lee C. … Ryu S.E. (J. Biol. Chem. 2003) 3 4 23

Products for HIF1AN Gene

Sources for HIF1AN Gene

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