HEPHL1
Hephaestin Like 1
Gene Information Card
| Symbol | HEPHL1 |
|---|---|
| Full Name | Hephaestin Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 341208 ncbi.nlm.nih.gov/gene/341208 |
| Ensembl ID | ENSG00000149273 |
| UniProt ID | Q6MZM0 |
| OMIM ID | 611752 |
| HGNC ID | 30418 |
| Aliases | Heph2, HEPHL1, hephaestin-like 1 |
Description
HEPHL1 (Hephaestin Like 1) is a protein-coding gene that encodes a member of the multicopper oxidase family. The encoded protein is a ferroxidase that oxidizes ferrous iron to ferric iron, playing a role in iron homeostasis. It is expressed in various tissues including the brain and placenta. Mutations in HEPHL1 have been associated with neurodegenerative disorders and iron metabolism abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Loss of ferroxidase activity leads to iron accumulation in the brain | ClinVar, OMIM |
| Hephaestin-like 1 deficiency | Impaired iron export from cells due to reduced ferroxidase activity | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Placenta | 5.1 | Medium |
| Testis | 2.8 | Low |
| Kidney | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| HEK293 | 1.8 | Embryonic kidney cells |
| HepG2 | 0.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1972C>T (p.Arg658Trp) | Missense | <0.01% | Reduced ferroxidase activity |
| c.1123G>A (p.Gly375Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Arg658Trp reduce ferroxidase activity, impairing iron export.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ferroxidase activity | • copper ion binding |
| • iron ion binding | • oxidation-reduction process |
| • iron homeostasis |
Pathways
• Iron metabolism
• Copper metabolism
Protein Summary
HEPHL1 is a 1158-amino acid transmembrane ferroxidase with a signal peptide and a multicopper oxidase domain. It localizes to the plasma membrane and facilitates iron export by oxidizing Fe2+ to Fe3+ for transferrin binding. The protein contains three cupredoxin-like domains and binds type I, type II, and type III copper centers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEPHL1 Knockout HEK293 Cell Line | EDJ-KQ13738 | Human | 341208 | Details Get a Quote |
| HEPHL1 Knockout HeLa Cell Line | EDJ-KQ59703 | Human | 341208 | Details Get a Quote |
| HEPHL1 Knockout A-549 Cell Line | EDJ-KQ68176 | Human | 341208 | Details Get a Quote |
| HEPHL1 Knockout HCT 116 Cell Line | EDJ-KQ76551 | Human | 341208 | Details Get a Quote |
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