HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HIGD1A
HIG1 hypoxia inducible domain family member 1A
Chromosome 3 · 3p22.1
NCBI Gene: 25994Ensembl: ENSG00000181061.15HGNC: HGNC:29527UniProt: Q9Y241
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein-containing complexnegative regulation of apoptotic processmitochondrial respirasome assemblydermatomycosistype 2 diabetes mellituscolorectal cancerhepatocellular carcinoma
✦AI Summary

HIGD1A is a mitochondrial inner membrane protein that functions as a critical regulator of cellular energy metabolism and stress responses. Primary Function: HIGD1A acts as a subunit of cytochrome c oxidase (Complex IV) and regulates respiratory complex and supercomplex biogenesis 1. Specifically, it supports Complex III biogenesis by facilitating UQCRFS1 incorporation and coordinates Complex IV assembly through interactions with COX subunits 1. Mechanism: Under hypoxic conditions, HIGD1A maintains mitochondrial integrity and enhances ATP generation by regulating cytochrome c oxidase activity, thereby promoting cell survival in mild-to-moderate hypoxia while inhibiting growth in severe hypoxia 2. Additionally, HIGD1A alleviates oxidative stress in granulosa cells via the NF-κB/SOD2 signaling pathway 3. Disease Relevance: HIGD1A translocates to the nucleus under DNA damage stress, where it promotes homologous recombination repair through RPA and 9-1-1 complex interactions 4. It also functions as a host restriction factor against hepatitis B virus by activating NF-κB signaling 5. Clinical Significance: HIGD1A represents a potential therapeutic target for hypoxia-related diseases, oxidative stress-induced infertility, cancer radio/chemo-resistance, and viral infections 2345.

Sources cited
1
HIGD1A maintains mitochondrial integrity under hypoxia, regulates cytochrome c oxidase and ATP generation, and has dual roles in tumor growth depending on hypoxia severity
PMID: 36804467
2
HIGD1A alleviates oxidative stress in granulosa cells via NF-κB/SOD2 signaling and is downregulated upon oxidative stress exposure
PMID: 40801481
3
HIGD1A regulates Complex III and Complex III-containing supercomplex biogenesis by supporting UQCRFS1 incorporation and coordinates Complex IV assembly with COX subunits
PMID: 32375044
4
HIGD1A translocates to nucleus upon DNA damage, interacts with NUP93 and RPA to promote homologous recombination and DNA damage checkpoint activation, affecting radio/chemo-sensitivity
PMID: 35152263
5
HIGD1A inhibits hepatitis B virus transcription and replication through PNKD-NF-κB-NR2F1 signaling pathway
PMID: 37185850
6
HIGD1A is a binding protein that modulates cytochrome c function in mitochondrial electron transport and cell death processes
PMID: 38521844
Disease Associationsⓘ20
dermatomycosisOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
colorectal cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
kidney diseaseOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
gliomaOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
glioblastomaOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
non-alcoholic steatohepatitisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
rectum mucinous adenocarcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
chronic hepatitis B virus infectionOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
colon adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIGD2AShared pathway100%COX4I1Protein interaction100%COX5AProtein interaction100%HIGD1CShared pathway50%HIGD2BShared pathway50%NAA38Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
77%
Liver
70%
Lung
16%
Bone Marrow
13%
Ovary
9%
Gene Interaction Network
Click a node to explore
HIGD1AHIGD2ACOX4I1COX5AHIGD1CHIGD2BNAA38
PROTEIN STRUCTURE
Preparing viewer…
PDB2LOM · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.77 [0.44–1.44]
RankingsWhere HIGD1A stands among ~20K protein-coding genes
  • #5,865of 20,598
    Most Researched81
  • #14,788of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedHIGD1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HIG1 domain family member 1A is a crucial regulator of disorders associated with hypoxia.
PMID: 36804467
Mitochondrion · 2023
1.00
2
HIGD1A Alleviates Oxidative Stress Related Ovarian Hypofunction by Enhancing Granulosa Cell Functions via NF-κB/SOD2 Signaling Pathway.
PMID: 40801481
Adv Sci (Weinh) · 2025
0.90
3
Distinct Roles of Mitochondrial HIGD1A and HIGD2A in Respiratory Complex and Supercomplex Biogenesis.
PMID: 32375044
Cell Rep · 2020
0.80
4
SARS-CoV-2 enhances complement-mediated endothelial injury via the suppression of membrane complement regulatory proteins.
PMID: 39945674
Emerg Microbes Infect · 2025
0.70
5
Adaptation to Hypoxia: A Chimera?
PMID: 32102292
Int J Mol Sci · 2020
0.60