Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HIF1AN (hypoxia inducible factor 1 subunit alpha inhibitor)

Identity

Alias_symbol (synonym)FLJ20615
DKFZp762F1811
FLJ22027
FIH1
Other alias
HGNC (Hugo) HIF1AN
LocusID (NCBI) 55662
Atlas_Id 40822
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100535884 and ends at 100553924 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BTRC (10q24.32) / HIF1AN (10q24.31)HIF1AN (10q24.31) / HIF1AN (10q24.31)BTRC 10q24.32 / HIF1AN 10q24.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  BTRC/HIF1AN (10q24)

External links

Nomenclature
HGNC (Hugo)HIF1AN   17113
Cards
Entrez_Gene (NCBI)HIF1AN  55662  hypoxia inducible factor 1 subunit alpha inhibitor
AliasesFIH1
GeneCards (Weizmann)HIF1AN
Ensembl hg19 (Hinxton)ENSG00000166135 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166135 [Gene_View]  ENSG00000166135 [Sequence]  chr10:100535884-100553924 [Contig_View]  HIF1AN [Vega]
ICGC DataPortalENSG00000166135
TCGA cBioPortalHIF1AN
AceView (NCBI)HIF1AN
Genatlas (Paris)HIF1AN
WikiGenes55662
SOURCE (Princeton)HIF1AN
Genetics Home Reference (NIH)HIF1AN
Genomic and cartography
GoldenPath hg38 (UCSC)HIF1AN  -     chr10:100535884-100553924 +  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIF1AN  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathHIF1AN - 10q24.31 [CytoView hg19]  HIF1AN - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000166135
Mapping of homologs : NCBIHIF1AN [Mapview hg19]  HIF1AN [Mapview hg38]
OMIM606615   
Gene and transcription
Genbank (Entrez)AF395830 AK000622 AK025680 AK295353 AL359615
RefSeq transcript (Entrez)NM_017902
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HIF1AN
Cluster EST : UnigeneHs.500788 [ NCBI ]
CGAP (NCI)Hs.500788
Alternative Splicing GalleryENSG00000166135
Gene ExpressionHIF1AN [ NCBI-GEO ]   HIF1AN [ EBI - ARRAY_EXPRESS ]   HIF1AN [ SEEK ]   HIF1AN [ MEM ]
Gene Expression Viewer (FireBrowse)HIF1AN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55662
GTEX Portal (Tissue expression)HIF1AN
Human Protein AtlasENSG00000166135-HIF1AN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWT6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWT6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWT6
Splice isoforms : SwissVarQ9NWT6
Catalytic activity : Enzyme1.14.11.30 [ Enzyme-Expasy ]   1.14.11.301.14.11.30 [ IntEnz-EBI ]   1.14.11.30 [ BRENDA ]   1.14.11.30 [ KEGG ]   
PhosPhoSitePlusQ9NWT6
Domaine pattern : Prosite (Expaxy)JMJC (PS51184)   
Domains : Interpro (EBI)FIH-1    FIH-1_dom_II    JmjC_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)JmjC (SM00558)  
Conserved Domain (NCBI)HIF1AN
DMDM Disease mutations55662
Blocks (Seattle)HIF1AN
PDB (RSDB)1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
PDB Europe1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
PDB (PDBSum)1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
PDB (IMB)1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
Structural Biology KnowledgeBase1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
SCOP (Structural Classification of Proteins)1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
CATH (Classification of proteins structures)1H2K    1H2L    1H2M    1H2N    1IZ3    1MZE    1MZF    1YCI    2CGN    2CGO    2ILM    2W0X    2WA3    2WA4    2XUM    2Y0I    2YC0    2YDE    3D8C    3KCX    3KCY    3OD4    3P3N    3P3P    4AI8    4B7E    4B7K    4BIO    4JAA    4NR1    4Z1V    4Z2W    5JWK    5JWL    5JWP    5OP6    5OP8    5OPC   
SuperfamilyQ9NWT6
Human Protein Atlas [tissue]ENSG00000166135-HIF1AN [tissue]
Peptide AtlasQ9NWT6
HPRD09426
IPIIPI00941238   IPI00299906   IPI00386223   IPI00978147   IPI00980221   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWT6
IntAct (EBI)Q9NWT6
FunCoupENSG00000166135
BioGRIDHIF1AN
STRING (EMBL)HIF1AN
ZODIACHIF1AN
Ontologies - Pathways
QuickGOQ9NWT6
Ontology : AmiGONotch binding  iron ion binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  zinc ion binding  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  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  oxygen sensor activity  carboxylic acid binding  peptidyl-histidine hydroxylation  peptidyl-histidine hydroxylation  peptidyl-histidine dioxygenase activity  peptidyl-histidine dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-aspartic acid hydroxylation  peptidyl-aspartic acid hydroxylation  peptidyl-asparagine hydroxylation  peptidyl-asparagine hydroxylation  peptidyl-asparagine hydroxylation  protein homodimerization activity  positive regulation of myoblast differentiation  negative regulation of Notch signaling pathway  negative regulation of Notch signaling pathway  cofactor binding  perinuclear region of cytoplasm  NF-kappaB binding  oxidation-reduction process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  negative regulation of transcription from RNA polymerase II promoter in response to hypoxia  negative regulation of transcription from RNA polymerase II promoter in response to hypoxia  ankyrin repeat binding  ankyrin repeat binding  hypoxia-inducible factor-asparagine oxygenase activity  positive regulation of vasculogenesis  
Ontology : EGO-EBINotch binding  iron ion binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  cytosol  zinc ion binding  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  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  oxygen sensor activity  carboxylic acid binding  peptidyl-histidine hydroxylation  peptidyl-histidine hydroxylation  peptidyl-histidine dioxygenase activity  peptidyl-histidine dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-asparagine 3-dioxygenase activity  peptidyl-aspartic acid hydroxylation  peptidyl-aspartic acid hydroxylation  peptidyl-asparagine hydroxylation  peptidyl-asparagine hydroxylation  peptidyl-asparagine hydroxylation  protein homodimerization activity  positive regulation of myoblast differentiation  negative regulation of Notch signaling pathway  negative regulation of Notch signaling pathway  cofactor binding  perinuclear region of cytoplasm  NF-kappaB binding  oxidation-reduction process  regulation of transcription from RNA polymerase II promoter in response to hypoxia  negative regulation of transcription from RNA polymerase II promoter in response to hypoxia  negative regulation of transcription from RNA polymerase II promoter in response to hypoxia  ankyrin repeat binding  ankyrin repeat binding  hypoxia-inducible factor-asparagine oxygenase activity  positive regulation of vasculogenesis  
NDEx NetworkHIF1AN
Atlas of Cancer Signalling NetworkHIF1AN
Wikipedia pathwaysHIF1AN
Orthology - Evolution
OrthoDB55662
GeneTree (enSembl)ENSG00000166135
Phylogenetic Trees/Animal Genes : TreeFamHIF1AN
HOGENOMQ9NWT6
Homologs : HomoloGeneHIF1AN
Homology/Alignments : Family Browser (UCSC)HIF1AN
Gene fusions - Rearrangements
Fusion : MitelmanBTRC/HIF1AN [10q24.32/10q24.31]  [t(10;10)(q24;q24)]  
Fusion PortalBTRC 10q24.32 HIF1AN 10q24.31 KIRC
Fusion : QuiverHIF1AN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIF1AN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIF1AN
dbVarHIF1AN
ClinVarHIF1AN
1000_GenomesHIF1AN 
Exome Variant ServerHIF1AN
ExAC (Exome Aggregation Consortium)ENSG00000166135
GNOMAD BrowserENSG00000166135
Varsome BrowserHIF1AN
Genetic variants : HAPMAP55662
Genomic Variants (DGV)HIF1AN [DGVbeta]
DECIPHERHIF1AN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIF1AN 
Mutations
ICGC Data PortalHIF1AN 
TCGA Data PortalHIF1AN 
Broad Tumor PortalHIF1AN
OASIS PortalHIF1AN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIF1AN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHIF1AN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HIF1AN
DgiDB (Drug Gene Interaction Database)HIF1AN
DoCM (Curated mutations)HIF1AN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HIF1AN (select a term)
intoGenHIF1AN
Cancer3DHIF1AN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606615   
Orphanet
DisGeNETHIF1AN
MedgenHIF1AN
Genetic Testing Registry HIF1AN
NextProtQ9NWT6 [Medical]
TSGene55662
GENETestsHIF1AN
Target ValidationHIF1AN
Huge Navigator HIF1AN [HugePedia]
snp3D : Map Gene to Disease55662
BioCentury BCIQHIF1AN
ClinGenHIF1AN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55662
Chemical/Pharm GKB GenePA29284
Clinical trialHIF1AN
Miscellaneous
canSAR (ICR)HIF1AN (select the gene name)
DataMed IndexHIF1AN
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHIF1AN
EVEXHIF1AN
GoPubMedHIF1AN
iHOPHIF1AN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 8 11:23:00 CEST 2019
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