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Aliases for HIF1AN Gene

Aliases for HIF1AN Gene

  • Hypoxia Inducible Factor 1 Alpha Subunit Inhibitor 2 3 5
  • Hypoxia-Inducible Factor Asparagine Hydroxylase 3 4
  • Peptide-Aspartate Beta-Dioxygenase 2 3
  • Factor Inhibiting HIF-1 3 4
  • FIH-1 3 4
  • FIH1 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

Previous GeneCards Identifiers for HIF1AN Gene

  • GC10P101188
  • GC10P101529
  • GC10P102420
  • GC10P101960
  • GC10P102285
  • GC10P095924

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 and Anemia Of Prematurity. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and HIF-2-alpha transcription factor network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 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. An important paralog of this gene is HSPBAP1.

UniProtKB/Swiss-Prot for HIF1AN Gene

  • Hydroxylates HIF-1 alpha at Asn-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

Additional gene information for HIF1AN Gene

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

Genomics for HIF1AN Gene

GeneHancer (GH) Regulatory Elements for HIF1AN Gene

Promoters and enhancers for HIF1AN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I100535 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 556.8 +6.9 6865 1.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B E2F8 HIF1AN SEC31B PHBP9 CWF19L1 SLC25A28 MRPL43 SLF2 SEMA4G NDUFB8 ENSG00000274660
GH10I100528 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 249 2.5 PKNOX1 ATF1 ZFP64 SIN3A DMAP1 ZNF48 YY1 ETS1 POLR2B ZNF143 ENSG00000255339 HIF1AN NDUFB8 SEC31B
GH10I100369 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -156.6 -156628 6.8 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3 NFYC MEF2D GLIS1 OLMALINC PHBP9 SEC31B EBAG9P1 LOC101927300 ENSG00000231188 SCD CHUK ENSG00000272572 ENSG00000255339
GH10I100481 Enhancer 1.1 Ensembl ENCODE 11.1 -46.6 -46647 2 CLOCK ATF1 ARID4B GLI4 ZNF2 BRCA1 ZNF48 ZNF121 GLIS2 ZNF143 SEC31B MRPL43 HIF1AN NDUFB8 ENSG00000255339 SLC25A28 LZTS2 LOC105378452 GC10M100500 WNT8B
GH10I100339 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.1 -189.8 -189794 1 CTCF FOXA2 SIN3A RAD21 ZNF335 CC2D1A POLR2A FOXK2 ARID2 ZNF143 PKD2L1 SEC31B HIF1AN NDUFB8 ENSG00000255339 ENSG00000231188 BLOC1S2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIF1AN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIF1AN gene promoter:

Genomic Locations for HIF1AN Gene

Genomic Locations for HIF1AN Gene
chr10:100,529,072-100,559,998
(GRCh38/hg38)
Size:
30,927 bases
Orientation:
Plus strand
chr10:102,288,829-102,319,755
(GRCh37/hg19)

Genomic View for HIF1AN Gene

Genes around HIF1AN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIF1AN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIF1AN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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). Interacts with NECAB3; the interaction is indirect and seems to be mediated by APBA3.

    Three dimensional structures from OCA and Proteopedia for HIF1AN Gene

neXtProt entry for HIF1AN Gene

Post-translational modifications for HIF1AN Gene

  • Ubiquitination at posLast=115115 and isoforms=131

Other Protein References for HIF1AN Gene

No data available for DME Specific Peptides for HIF1AN Gene

Domains & Families for HIF1AN Gene

Gene Families for HIF1AN Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HIF1AN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HIF1AN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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 domain protein]-L-histidine + 2-oxoglutarate + O(2) = [ankyrin-repeat domain protein]-(3S)-3-hydroxy-L-histidine + succinate + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
[Ankyrin-repeat domain protein]-L-asparagine + 2-oxoglutarate + O(2) = [ankyrin-repeat domain protein]-(3S)-3-hydroxy-L-asparagine + succinate + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
[Ankyrin-repeat domain protein]-L-aspartate + 2-oxoglutarate + O(2) = [ankyrin-repeat domain protein]-(3S)-3-hydroxy-L-aspartate + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Hydroxylates HIF-1 alpha at Asn-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

Phenotypes From GWAS Catalog 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:0016491 oxidoreductase activity IEA --
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:

Animal Model Products

CRISPR Products

miRNA for HIF1AN Gene

miRTarBase miRNAs that target HIF1AN

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIF1AN gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIF1AN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 colocalizes_with nucleus IEA,IDA 18299578
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 14734545
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IEA,IDA 19726677
genes like me logo Genes that share ontologies with HIF1AN: view

Pathways & Interactions for HIF1AN Gene

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

SIGNOR curated interactions for HIF1AN Gene

Inactivates:

Gene Ontology (GO) - Biological Process for HIF1AN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of 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
genes like me logo Genes that share ontologies with HIF1AN: view

Drugs & Compounds for HIF1AN Gene

(10) Drugs for HIF1AN Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Tartaric acid Approved Pharma Enzyme, catalytic activity 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
D-tartaric acid Experimental Pharma Target 0

(5) Additional Compounds for HIF1AN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7

(1) ApexBio Compounds for HIF1AN Gene

Compound Action Cas Number
BAY 87-2243 HIF-1 inhibitor,potent and selective 1227158-85-1
genes like me logo Genes that share compounds with HIF1AN: view

Drug Products

Transcripts for HIF1AN Gene

Unigene Clusters for HIF1AN Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for HIF1AN Gene

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

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for HIF1AN Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.5) and Fetal Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HIF1AN Gene



Protein tissue co-expression partners for HIF1AN Gene

NURSA nuclear receptor signaling pathways regulating expression of HIF1AN Gene:

HIF1AN

SOURCE GeneReport for Unigene cluster for HIF1AN Gene:

Hs.500788

Evidence on tissue expression from TISSUES for HIF1AN Gene

  • Nervous system(4.6)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with HIF1AN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIF1AN Gene

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 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia HIF1AN 33 34
  • 94.46 (n)
oppossum
(Monodelphis domestica)
Mammalia HIF1AN 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIF1AN 33 34
  • 93.87 (n)
mouse
(Mus musculus)
Mammalia Hif1an 33 16 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Hif1an 33
  • 91.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HIF1AN 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIF1AN 33 34
  • 80.83 (n)
lizard
(Anolis carolinensis)
Reptilia HIF1AN 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hif1an 33
  • 77.44 (n)
MGC76135 33
zebrafish
(Danio rerio)
Actinopterygii hif1an 33 34
  • 75.08 (n)
Dr.13371 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13324 33
Species where no ortholog for HIF1AN was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000149170 -- 100,551,526(+) C/A 3_prime_UTR_variant
rs1000184123 -- 100,534,006(+) C/T upstream_transcript_variant
rs1000369682 -- 100,551,909(+) C/T 3_prime_UTR_variant
rs1000408468 -- 100,546,232(+) T/C intron_variant
rs1000593922 -- 100,535,759(+) T/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv831963 CNV loss 17160897
nsv831962 CNV gain 17160897
nsv7519 CNV insertion 18451855
esv2759779 CNV gain+loss 17122850
dgv277e212 CNV loss 25503493

Variation tolerance for HIF1AN Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.97; 79.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIF1AN Gene

Human Gene Mutation Database (HGMD)
HIF1AN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIF1AN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIF1AN Gene

Disorders for HIF1AN Gene

MalaCards: The human disease database

(5) MalaCards diseases for HIF1AN Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypoxia
anemia of prematurity
acute mountain sickness
  • altitude anoxia
severe pre-eclampsia
  • antepartum severe pre-eclampsia
renal cell carcinoma, nonpapillary
  • rcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIF1AN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HIF1AN: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 PC … Semenza GL (Genes & development 2001) 2 3 4 22 58
  2. 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 (The Journal of biological chemistry 2009) 3 4 22 58
  3. 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 (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 22 58
  4. Substrate requirements of the oxygen-sensing asparaginyl hydroxylase factor-inhibiting hypoxia-inducible factor. (PMID: 14734545) Linke S … Peet DJ (The Journal of biological chemistry 2004) 3 4 22 58
  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 SE (The Journal of biological chemistry 2003) 3 4 22 58

Products for HIF1AN Gene

Sources for HIF1AN Gene

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