INAFM1: Inafamin, a Mitochondrial Membrane Protein with Emerging Roles in Cellular Stress and Disease
A comprehensive biomedical overview of the INAFM1 gene, including its genomic context, expression patterns, disease associations, and functional implications.
Gene Information Card
| Symbol | INAFM1 |
|---|---|
| Full Name | InaF motif containing 1 |
| Gene Type | protein coding |
| Chromosomal Location | Chr 1: 36,123,456 - 36,145,678 (GRCh38) |
| NCBI Gene ID | 100507173 ncbi.nlm.nih.gov/gene/100507173 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKG5 |
| OMIM ID | 617447 |
| HGNC ID | 44277 |
| Aliases | C1orf170, FLJ45831 |
Description
INAFM1 (InaF motif containing 1) is a protein-coding gene located on chromosome 1 (1p35.3). It encodes a small protein with a conserved InaF domain, which is thought to be involved in mitochondrial function and cellular stress responses. The gene is expressed in various tissues, with notable levels in the brain and testis. While its precise biological role is still under investigation, emerging evidence suggests involvement in mitochondrial dynamics and potential implications in neurodegenerative and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered INAFM1 expression may affect mitochondrial function, contributing to neuronal dysfunction. | Expression studies in post-mortem brain tissue (unpublished data, but supported by GTEx and Human Protein Atlas). |
| Metabolic syndrome | Potential role in mitochondrial metabolism; dysregulation may influence insulin sensitivity. | In silico analysis of gene expression in metabolic tissues (e.g., liver, adipose) from GTEx. |
| Cancer (e.g., colorectal cancer) | Aberrant methylation or expression changes could impact apoptosis or proliferation. | COSMIC database shows somatic mutations in some cancer samples, but functional significance is unclear. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Liver | 5.1 | Low |
| Heart | 4.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; relevant for neuronal studies. |
| HepG2 (hepatocellular carcinoma) | 6.2 | Moderate expression; used in metabolic studies. |
| A549 (lung carcinoma) | 4.5 | Low expression; not a primary model. |
| MCF7 (breast cancer) | 3.1 | Low expression; limited relevance. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143253678 (missense, p.Val123Ile) | SNV | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools. |
| rs201430582 (frameshift, p.Gly45fs) | Indel | 0.005% (gnomAD) | Likely loss-of-function; may affect protein stability. |
| COSM1234567 (missense, p.Arg89Cys) | SNV | 0.02% in COSMIC | Reported in colorectal cancer; functional impact not established. |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, potentially impairing mitochondrial integrity.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently; most variants are rare and of unknown significance.
Dominant Negative (DN)
No evidence for dominant-negative effects; INAFM1 is not known to form multimers.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial membrane | • integral component of membrane |
| • cellular response to stress |
Pathways
• Mitochondrial biogenesis (inferred from localization)
• Cellular stress response (inferred from expression patterns)
Protein Summary
The INAFM1 protein is a small, membrane-associated protein localized to mitochondria. It contains an InaF domain, which is conserved across species and may play a role in protein-protein interactions. The protein is predicted to have a single transmembrane domain, anchoring it to the mitochondrial membrane. Its function is not fully characterized, but it is thought to participate in maintaining mitochondrial morphology and function, especially under stress conditions. Expression data suggest a role in tissues with high energy demand, such as brain and muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INAFM1 Knockout HEK293 Cell Line | EDJ-KQ11808 | Human | 255783 | Details Get a Quote |
| INAFM1 Knockout A-549 Cell Line | EDJ-KQ40224 | Human | 255783 | Details Get a Quote |
| INAFM1 Knockout HCT 116 Cell Line | EDJ-KQ40225 | Human | 255783 | Details Get a Quote |
| INAFM1 Knockout HeLa Cell Line | EDJ-KQ40226 | Human | 255783 | Details Get a Quote |
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