HIGD1A Gene - Hypoxia Inducible Domain Family Member 1A
Comprehensive gene card for HIGD1A, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | HIGD1A |
|---|---|
| Full Name | Hypoxia Inducible Domain Family Member 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 25994 ncbi.nlm.nih.gov/gene/25994 |
| Ensembl ID | ENSG00000169605 |
| UniProt ID | Q9Y241 |
| OMIM ID | 617202 |
| HGNC ID | 24910 |
| Aliases | HIG1, HIGD1, RCF1A |
Description
HIGD1A encodes a member of the hypoxia-inducible gene family. The protein is localized to mitochondria and is involved in the assembly and stabilization of cytochrome c oxidase (complex IV) under hypoxic conditions, thereby modulating cellular respiration and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Impaired assembly of cytochrome c oxidase due to HIGD1A dysfunction | PMID: 25847240 |
| Hypoxia-related ischemic injury | Altered mitochondrial response to low oxygen | PMID: 23152787 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 10.1 | Medium |
| Kidney | 9.7 | Low |
| Skeletal muscle | 14.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.0 | Moderate expression |
| HEK293 | 9.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional effect |
| c.341G>A (p.Arg114Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Cellular response to hypoxia (Reactome: R-HSA-2262749)
Protein Summary
HIGD1A is a 107-amino acid mitochondrial inner membrane protein that interacts with COX assembly factors to promote the formation of the supercomplex between complex III and complex IV. It is upregulated under hypoxic conditions and protects cells from apoptosis by maintaining mitochondrial membrane potential and reducing reactive oxygen species production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HIGD1A Knockout HEK293 Cell Line | EDJ-KQ51154 | Human | 25994 | Details Get a Quote |
| HIGD1A Knockout HeLa Cell Line | EDJ-KQ55860 | Human | 25994 | Details Get a Quote |
| HIGD1A Knockout A-549 Cell Line | EDJ-KQ64352 | Human | 25994 | Details Get a Quote |
| HIGD1A Knockout HCT 116 Cell Line | EDJ-KQ72800 | Human | 25994 | Details Get a Quote |
