Aliases for HIF1AN Gene
Aliases for HIF1AN Gene
External Ids for HIF1AN Gene
- HGNC: 17113
- Entrez Gene: 55662
- Ensembl: ENSG00000166135
- OMIM: 606615
- UniProtKB: Q9NWT6
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 Photodynamic therapy-induced HIF-1 survival signaling. 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 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.
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
Regulatory Elements for HIF1AN Gene
Enhancers for HIF1AN Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIF1AN on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIF1AN gene promoter:
Regulatory Element Products
Genomic Location for HIF1AN Gene
- Chromosome:
- 10
- 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
Genes around HIF1AN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.31 by Ensembl
- 10q24.31 by Entrez Gene
- 10q24.31 by HGNC
HIF1AN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for HIF1AN Gene
Post-translational modifications for HIF1AN Gene
Other Protein References for HIF1AN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HIF1AN
- R&D Systems Antibodies for HIF1AN (FIH-1/HIF-1AN)
- Cell Signaling Technology (CST) Antibodies for HIF1AN (HIF1AN)
-
Custom Antibody ServicesOriGene Antibodies for HIF1AN
- Novus Biologicals Antibodies for HIF1AN
-
Cloud-Clone Corp. Antibodies for HIF1AN
- Invitrogen Antibodies for HIF1AN
- antibodies-online Antibodies for HIF1AN: See all 140
- GeneTex M6pr antibody for HIF1AN
- GeneTex HIF1AN antibody for HIF1AN
-
Santa Cruz Biotechnology (SCBT) Antibodies for HIF1AN
Protein Products
-
OriGene Purified Proteins for HIF1AN
- Search Origene for MassSpec and Protein Over-expression Lysates for HIF1AN
- Origene Custom Protein Services for HIF1AN
- ProSpec Recombinant Proteins for HIF1AN
-
Cloud-Clone Corp. Proteins for HIF1AN
- Search GeneTex for Proteins for HIF1AN
Assay Products
-
Cloud-Clone Corp Assay Kits for HIF1AN
No data available for DME Specific Peptides for HIF1AN Gene
Domains & Families for HIF1AN Gene
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
No data available for Gene Families and 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-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
| 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 | -- |
Phenotypes for HIF1AN Gene
- MGI mutant phenotypes for HIF1AN:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HIF1AN:
Animal Models for HIF1AN Gene
- MGI Knock Outs for HIF1AN:
-
- Hif1an tm1.2Rsjo
Animal Model Products
-
Taconic Biosciences Mouse Models for HIF1AN
-
ViGene Biosciences lentiviral particle packaged cDNA for HIF1AN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF1AN gene
- Search ViGene Biosciences for HIF1AN
CRISPR Products
-
OriGene CRISPR knockouts for HIF1AN
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF1AN
- GenScript: Design CRISPR guide RNA sequences for HIF1AN
miRNA for HIF1AN Gene
- miRTarBase miRNAs that target HIF1AN
-
- hsa-mir-31-5p (MIRT006468)
- hsa-mir-148b-3p (MIRT019390)
- hsa-mir-130b-3p (MIRT020305)
- hsa-mir-19b-3p (MIRT031231)
- hsa-mir-1301-3p (MIRT036066)
- hsa-mir-296-3p (MIRT038515)
- hsa-mir-193b-3p (MIRT041433)
- hsa-mir-328-3p (MIRT043794)
- hsa-mir-23b-3p (MIRT046339)
- hsa-let-7e-5p (MIRT051688)
- hsa-mir-3653-5p (MIRT261002)
- hsa-mir-20a-5p (MIRT440506)
- hsa-mir-106b-5p (MIRT440507)
- hsa-mir-3188 (MIRT612903)
- hsa-mir-500b-3p (MIRT612904)
- hsa-mir-1912 (MIRT612905)
- hsa-mir-1295b-5p (MIRT612906)
- hsa-mir-362-3p (MIRT612907)
- hsa-mir-329-3p (MIRT612908)
- hsa-mir-8485 (MIRT612909)
- hsa-mir-3911 (MIRT615876)
- hsa-mir-4800-5p (MIRT615877)
- hsa-mir-3138 (MIRT615878)
- hsa-mir-648 (MIRT634654)
- hsa-mir-5195-5p (MIRT634655)
- hsa-mir-7641 (MIRT638610)
- hsa-mir-4695-3p (MIRT638611)
- hsa-mir-6787-3p (MIRT638612)
- hsa-mir-6890-3p (MIRT638613)
- hsa-mir-4757-3p (MIRT638614)
- hsa-mir-500a-3p (MIRT638615)
- hsa-mir-4327 (MIRT638616)
- hsa-mir-587 (MIRT657417)
- hsa-mir-3140-3p (MIRT657418)
- hsa-mir-640 (MIRT657419)
- hsa-mir-6821-3p (MIRT657420)
- hsa-mir-4474-5p (MIRT657421)
- hsa-mir-6790-3p (MIRT657422)
- hsa-mir-371a-5p (MIRT657423)
- hsa-mir-1224-3p (MIRT657424)
- hsa-mir-3934-5p (MIRT657425)
- hsa-mir-764 (MIRT657426)
- hsa-mir-125a-3p (MIRT657427)
- hsa-mir-378a-5p (MIRT675381)
- hsa-mir-372-5p (MIRT675382)
- hsa-mir-616-5p (MIRT675383)
- hsa-mir-373-5p (MIRT675384)
- hsa-mir-371b-5p (MIRT675385)
- hsa-mir-6778-3p (MIRT679377)
- hsa-mir-150-5p (MIRT679378)
- hsa-mir-4302 (MIRT702955)
- hsa-mir-3187-3p (MIRT718938)
- hsa-mir-4435 (MIRT718939)
- hsa-mir-588 (MIRT718940)
- hsa-mir-4701-5p (MIRT718941)
- hsa-mir-548s (MIRT718942)
- hsa-mir-599 (MIRT718943)
- hsa-mir-1238-3p (MIRT718944)
- hsa-mir-670-3p (MIRT718945)
- hsa-mir-3161 (MIRT718946)
- hsa-mir-6816-3p (MIRT718947)
- hsa-mir-8080 (MIRT718948)
- hsa-mir-8064 (MIRT723926)
- hsa-mir-4671-5p (MIRT723927)
- hsa-mir-519d-3p (MIRT727496)
- hsa-mir-93-5p (MIRT727497)
- hsa-mir-20b-5p (MIRT727498)
- hsa-mir-17-5p (MIRT727499)
miRNA Products
- Search ViGene Biosciences for HIF1AN
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIF1AN
- Browse OriGene Inhibitory RNA Products For HIF1AN
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF1AN gene
Clone Products
-
OriGene ORF clones in human for HIF1AN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HIF1AN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HIF1AN
Cell Line Products
-
Horizon Cell Lines for HIF1AN
-
ViGene Biosciences adenoviral particle packaged cDNA for HIF1AN gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIF1AN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF1AN gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| 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 |
Pathways & Interactions for HIF1AN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIF Repressor Pathways | ||
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | Angiogenesis (CST) | ||
| 4 | Translational Control | ||
| 5 | HIF1Alpha Pathway | ||
Pathways by source for HIF1AN Gene
1 GeneTex pathway for HIF1AN Gene
2 Cell Signaling Technology pathways for HIF1AN Gene
4 Reactome pathways for HIF1AN Gene
1 R&D Systems pathway for HIF1AN Gene
1 Qiagen pathway for HIF1AN Gene
Interacting Proteins for HIF1AN Gene
Selected Interacting proteins:
ENSP00000299163
Q9NWT6-HIF1N_HUMAN
for HIF1AN Gene via
STRING
MINT
IID
UniProtKB
| 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 |
Drugs & Compounds for HIF1AN Gene
| 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, Vet_approved | Pharma | 0 | |||
| Succinic acid | Approved | Nutra | Full agonist, Agonist | 0 | ||
| D-tartaric acid | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
|||
| Oxoglutaric acid |
|
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 |
Transcripts for HIF1AN Gene
mRNA/cDNA for HIF1AN Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (235) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIF1AN Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIF1AN
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF1AN
- GenScript: Design CRISPR guide RNA sequences for HIF1AN
miRNA Products
- Search ViGene Biosciences for HIF1AN
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIF1AN
- Browse OriGene Inhibitory RNA Products For HIF1AN
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF1AN gene
Clone Products
-
OriGene ORF clones in human for HIF1AN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HIF1AN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HIF1AN
Flow Cytometry Products
Expression for HIF1AN Gene
mRNA differential expression in normal tissues according to GTEx for HIF1AN Gene
This gene is overexpressed in Muscle - Skeletal (x4.3).
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
NURSA nuclear receptor signaling pathways regulating expression of HIF1AN Gene:
HIF1ANSOURCE GeneReport for Unigene cluster for HIF1AN Gene:
Hs.500788Evidence on tissue expression from TISSUES for HIF1AN Gene
- Nervous system(4.6)
- Muscle(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for HIF1AN
-
OriGene qPCR primer pairs for HIF1AN
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIF1AN 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HIF1AN 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HIF1AN 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HIF1AN 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hif1an 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hif1an 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HIF1AN 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HIF1AN 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HIF1AN 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hif1an 34 |
|
||
| MGC76135 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | hif1an 34 35 |
|
||
| Dr.13371 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.13324 34 |
|
- 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)
Paralogs for HIF1AN Gene
Variants for HIF1AN Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000149170 | -- | 100,551,526(+) | AGTTG(A/C)CAGCC | utr-variant-3-prime | |
| rs1000184123 | -- | 100,534,006(+) | CTGCA(C/T)CTCCC | upstream-variant-2KB | |
| rs1000369682 | -- | 100,551,909(+) | CTACC(C/T)AGGCT | utr-variant-3-prime | |
| rs1000408468 | -- | 100,546,232(+) | CCCTG(C/T)CTCTA | intron-variant | |
| rs1000593922 | -- | 100,535,759(+) | GAGCC(A/T)AGGAT | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv277e212 | CNV | loss | 25503493 |
| esv2759779 | CNV | gain+loss | 17122850 |
| nsv7519 | CNV | insertion | 18451855 |
| nsv831962 | CNV | gain | 17160897 |
| nsv831963 | CNV | loss | 17160897 |
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)
Relevant External Links for HIF1AN Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIF1AN Gene
Disorders for HIF1AN Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoxia |
|
|
| anemia of prematurity |
|
|
| acute mountain sickness |
|
|
| severe pre-eclampsia |
|
|
| pre-eclampsia |
|
|
Search HIF1AN in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIF1AN
No data available for UniProtKB/Swiss-Prot and Genatlas for HIF1AN Gene
Publications for HIF1AN Gene
- 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 22 64
- 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 22 64
- 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 22 64
- Substrate requirements of the oxygen-sensing asparaginyl hydroxylase factor-inhibiting hypoxia-inducible factor. (PMID: 14734545) Linke S. … Peet D.J. (J. Biol. Chem. 2004) 3 4 22 64
- 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 22 64
Products for HIF1AN Gene
- R&D Systems Antibodies for HIF1AN (FIH-1/HIF-1AN)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HIF1AN
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HIF1AN
- Search Origene for MassSpec and Protein Over-expression Lysates for HIF1AN
- Origene Custom Protein Services for HIF1AN
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIF1AN
- Browse OriGene Inhibitory RNA Products For HIF1AN
- OriGene qPCR primer pairs and template standards for HIF1AN
- OriGene qPCR primer pairs for HIF1AN
- OriGene CRISPR knockouts for HIF1AN
- OriGene ORF clones in human for HIF1AN
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HIF1AN
- GenScript: Next-day shipping cDNA ORF clone for HIF1AN in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HIF1AN
- GenScript Custom Assay Services for HIF1AN
- GenScript Custom overexpressing Cell Line Services for HIF1AN
- GenScript: Design CRISPR guide RNA sequences for HIF1AN
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HIF1AN
- Cell Signaling Technology (CST) Antibodies for HIF1AN (HIF1AN)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for HIF1AN
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HIF1AN
- Novus Biologicals proteins and lysates for HIF1AN
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for HIF1AN
- Cloud-Clone Corp. Antibodies for HIF1AN
- Cloud-Clone Corp. Proteins for HIF1AN
- Cloud-Clone Corp Assay Kits for HIF1AN
- Taconic Biosciences Mouse Models for HIF1AN
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for HIF1AN
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for HIF1AN
- Addgene plasmids for HIF1AN
- GeneTex M6pr antibody for HIF1AN
- GeneTex HIF1AN antibody for HIF1AN
- Search GeneTex for Proteins for HIF1AN
- ViGene Biosciences adenoviral particle packaged cDNA for HIF1AN gene
- ViGene Biosciences lentiviral particle packaged cDNA for HIF1AN gene
- ViGene Biosciences ready-to-package AAV shRNAs for HIF1AN gene
- Search ViGene Biosciences for HIF1AN
- Santa Cruz Biotechnology (SCBT) Antibodies for HIF1AN
- Search Santa Cruz Biotechnology (SCBT) for HIF1AN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HIF1AN
- Horizon Cell Lines for HIF1AN
- Cyagen custom Knockout/knockin (KOKI) mouse models for HIF1AN
- VectorBuilder custom plasmid, inducible vectors for HIF1AN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HIF1AN
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIF1AN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer