GeneBe

HIF1AN

hypoxia inducible factor 1 subunit alpha inhibitor, the group of JmjC hydroxylases

Basic information

Region (hg38): 10:100529072-100559998

Links

ENSG00000166135 ∙ NCBI:55662 ∙ OMIM:606615 ∙ HGNC:17113 ∙ Uniprot:Q9NWT6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HIF1AN gene.

  • not_specified (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HIF1AN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017902.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
19
clinvar
 19
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 19 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HIF1ANprotein_codingprotein_codingENST00000299163 830927
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.07390.9261257350131257480.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.021111890.5870.000009122315
Missense in Polyphen2573.1750.34164919
Synonymous0.7816472.50.8830.00000388629
Loss of Function3.07621.20.2820.00000109227

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009600.0000904
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00004420.0000439
Middle Eastern0.00005440.0000544
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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. {ECO:0000269|PubMed:12042299, ECO:0000269|PubMed:12080085, ECO:0000269|PubMed:17003112, ECO:0000269|PubMed:17573339, ECO:0000269|PubMed:18299578, ECO:0000269|PubMed:19245366, ECO:0000269|PubMed:21177872, ECO:0000269|PubMed:21251231}.;
Pathway
Glutaminolysis and Cancer;miR-148a-miR-31-FIH1-HIF1α-Notch signaling in glioblastoma;Photodynamic therapy-induced HIF-1 survival signaling;Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of Hypoxia-inducible Factor (HIF) by oxygen;Cellular response to hypoxia;Cellular responses to stress;HIF-2-alpha transcription factor network;Hypoxic and oxygen homeostasis regulation of HIF-1-alpha;Cellular responses to external stimuli (Consensus)

Recessive Scores

pRec
0.149

Intolerance Scores

loftool
0.512
rvis_EVS
0.26
rvis_percentile_EVS
70.06

Haploinsufficiency Scores

pHI
0.540
hipred
Y
hipred_score
0.783
ghis
0.513

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.987

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hif1an
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);

Zebrafish Information Network

Gene name
hif1an
Affected structure
angiogenic sprout
Phenotype tag
abnormal
Phenotype quality
mislocalised

Gene ontology

Biological process
peptidyl-histidine hydroxylation;peptidyl-aspartic acid hydroxylation;peptidyl-asparagine hydroxylation;positive regulation of myoblast differentiation;negative regulation of Notch signaling pathway;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;positive regulation of vasculogenesis
Cellular component
nucleus;nucleoplasm;cytoplasm;cytosol;perinuclear region of cytoplasm
Molecular function
Notch binding;iron ion binding;protein binding;zinc ion binding;2-oxoglutarate-dependent dioxygenase activity;oxygen sensor activity;carboxylic acid binding;peptidyl-histidine dioxygenase activity;peptidyl-asparagine 3-dioxygenase activity;protein homodimerization activity;cofactor binding;NF-kappaB binding;ankyrin repeat binding;hypoxia-inducible factor-asparagine oxygenase activity