ADIRF (Adipogenesis Regulatory Factor)
A key regulator of adipocyte differentiation and lipid metabolism
Gene Information Card
| Symbol | ADIRF |
|---|---|
| Full Name | Adipogenesis Regulatory Factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 10974 ncbi.nlm.nih.gov/gene/10974 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H0W8 |
| OMIM ID | 614105 |
| HGNC ID | 24026 |
| Aliases | C1orf41, APM-1, APM1 |
Description
ADIRF (Adipogenesis Regulatory Factor) is a protein-coding gene located on chromosome 1q32.1. It encodes a small protein that plays a critical role in adipocyte differentiation and lipid metabolism. ADIRF is highly expressed in adipose tissue and is involved in the regulation of adipogenesis, potentially influencing obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | ADIRF regulates adipocyte differentiation; altered expression may contribute to adipocyte hypertrophy and obesity | PMID: 20018905 |
| Type 2 Diabetes | Dysregulation of ADIRF in adipose tissue may impair insulin sensitivity and glucose metabolism | PMID: 20018905 |
| Lipodystrophy | Loss of ADIRF function may disrupt normal adipose tissue development | PMID: 20018905 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | High |
| Breast | 12.1 | Medium |
| Liver | 8.5 | Medium |
| Skeletal muscle | 6.3 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 (adipocyte precursor) | 35.0 | High expression during differentiation |
| HepG2 (hepatocellular carcinoma) | 8.2 | Moderate expression |
| MCF7 (breast cancer) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ADIRF are predicted to impair adipocyte differentiation, potentially leading to lipodystrophy or metabolic dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADIRF.
Dominant Negative (DN)
No dominant-negative mutations have been described for ADIRF.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0045444 (fat cell differentiation) | • GO:0006629 (lipid metabolic process) |
Pathways
• Adipogenesis pathway (Reactome: R-HSA-381340)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
The ADIRF protein (UniProt Q9H0W8) is a small, 88-amino-acid protein predominantly localized in the cytoplasm. It is highly expressed in adipose tissue and functions as a positive regulator of adipogenesis. ADIRF interacts with transcription factors involved in adipocyte differentiation, such as PPARγ and C/EBPα, and promotes lipid accumulation. Its expression is upregulated during adipocyte differentiation and downregulated in obesity-related insulin resistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADIRF Knockout HEK293 Cell Line | EDJ-KQ51026 | Human | 10974 | Details Get a Quote |
| ADIRF Knockout HeLa Cell Line | EDJ-KQ55536 | Human | 10974 | Details Get a Quote |
| ADIRF Knockout A-549 Cell Line | EDJ-KQ64028 | Human | 10974 | Details Get a Quote |
| ADIRF Knockout HCT 116 Cell Line | EDJ-KQ72479 | Human | 10974 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
