SFXN5: Sideroflexin 5 - Mitochondrial Serine Transporter
Comprehensive genomic and functional analysis of SFXN5, a mitochondrial sideroflexin family member involved in serine transport and one-carbon metabolism.
Gene Information Card
| Symbol | SFXN5 |
|---|---|
| Full Name | Sideroflexin 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 94097 ncbi.nlm.nih.gov/gene/94097 |
| Ensembl ID | ENSG00000144036 |
| UniProt ID | Q8TDX5 |
| OMIM ID | 615569 |
| HGNC ID | 16089 |
| Aliases | SLC56A5, FLJ22662 |
Description
SFXN5 encodes sideroflexin 5, a member of the sideroflexin family of mitochondrial inner membrane transporters. It functions as a serine transporter, importing serine into mitochondria for one-carbon metabolism and glycine synthesis. SFXN5 is widely expressed and plays a role in cellular redox balance and nucleotide biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Impaired mitochondrial serine transport leading to disrupted one-carbon metabolism | ClinVar; PMID: 31585110 |
| Colorectal cancer | Altered SFXN5 expression may affect mitochondrial metabolism and tumor growth | COSMIC; PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 7.5 | Low |
| Heart | 6.2 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| SH-SY5Y | 8.9 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96Trp) | Missense | Rare | Loss of serine transport activity; associated with neurodevelopmental disorder |
| c.512G>A (p.Gly171Asp) | Missense | Rare | Reduced protein stability; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
p.Arg96Trp and p.Gly171Asp impair mitochondrial serine import, reducing one-carbon metabolism.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SFXN5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial serine import (Reactome: R-HSA-8878168)
• One-carbon metabolism (KEGG: hsa00670)
Protein Summary
Sideroflexin 5 is a 337-amino acid mitochondrial inner membrane protein with five transmembrane domains. It mediates the transport of serine into the mitochondrial matrix, where it is converted to glycine and formate, supporting one-carbon metabolism. The protein is essential for nucleotide synthesis and redox homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFXN5 Knockout HEK293 Cell Line | EDJ-KQ11285 | Human | 94097 | Details Get a Quote |
| SFXN5 Knockout A-549 Cell Line | EDJ-KQ39395 | Human | 94097 | Details Get a Quote |
| SFXN5 Knockout HCT 116 Cell Line | EDJ-KQ39396 | Human | 94097 | Details Get a Quote |
| SFXN5 Knockout HeLa Cell Line | EDJ-KQ39397 | Human | 94097 | Details Get a Quote |
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