HIF1AN
Hypoxia Inducible Factor 1 Alpha Subunit Inhibitor
Gene Information Card
| Symbol | HIF1AN |
|---|---|
| Full Name | Hypoxia Inducible Factor 1 Alpha Subunit Inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 55662 ncbi.nlm.nih.gov/gene/55662 |
| Ensembl ID | ENSG00000166135 |
| UniProt ID | Q9NWT6 |
| OMIM ID | 606615 |
| HGNC ID | 18575 |
| Aliases | FIH1, FLJ20628, MGC111111 |
Description
HIF1AN encodes factor inhibiting HIF-1 (FIH-1), an asparaginyl hydroxylase that negatively regulates hypoxia-inducible factor 1 alpha (HIF-1α) by hydroxylating a specific asparagine residue, blocking coactivator recruitment and reducing transcriptional activity under normoxic conditions. This gene plays a critical role in oxygen sensing and cellular adaptation to hypoxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Loss of HIF1AN function leads to increased HIF-1α activity, promoting angiogenesis and tumor growth. | PMID: 19351878 |
| Ischemic disease | Reduced HIF1AN expression enhances HIF-1α stability, potentially protective in ischemia. | PMID: 15591009 |
| Renal cell carcinoma | Somatic mutations and downregulation of HIF1AN correlate with HIF pathway activation. | PMID: 21502544 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 15.1 | Medium |
| Liver | 6.7 | Low |
| Lung | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 9.8 | Medium expression |
| MCF7 | 11.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.374C>T | Nonsense | <0.01% | Predicted loss of function |
| c.682G>A | Missense | <0.01% | Reduced hydroxylase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair hydroxylase activity reduce HIF-1α inhibition, leading to constitutive HIF signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • asparaginyl hydroxylase activity | • protein binding |
| • metal ion binding | • regulation of transcription from RNA polymerase II promoter in response to hypoxia |
| • negative regulation of transcription from RNA polymerase II promoter |
Pathways
• HIF-1 signaling pathway (KEGG: hsa04066)
• Oxygen sensing pathway (Reactome: R-HSA-1234176)
Protein Summary
HIF1AN encodes factor inhibiting HIF-1 (FIH-1), a 349-amino acid protein containing a JmjC domain that catalyzes asparagine hydroxylation. It acts as a negative regulator of HIF-1α by hydroxylating Asn803, preventing interaction with p300/CBP coactivators. FIH-1 is widely expressed and localizes to the cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HIF1AN Knockout HEK293 Cell Line | EDJ-KQ11192 | Human | 55662 | Details Get a Quote |
| HIF1AN Knockout A-549 Cell Line | EDJ-KQ40490 | Human | 55662 | Details Get a Quote |
| HIF1AN Knockout HCT 116 Cell Line | EDJ-KQ40492 | Human | 55662 | Details Get a Quote |
| HIF1AN Knockout HeLa Cell Line | EDJ-KQ40493 | Human | 55662 | Details Get a Quote |
