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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAK16
MAK16 homolog
Chromosome 8 · 8p12
NCBI Gene: 84549Ensembl: ENSG00000198042.12HGNC: HGNC:13703UniProt: Q9BXY0
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingnucleolusmaturation of 5.8S rRNAsevere intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeneurodegenerative diseaseinborn disorder of amino acid metabolismgenetic disorder
✦AI Summary

MAK16 is a nucleolar protein essential for eukaryotic ribosome biogenesis, specifically functioning in the maturation of the large (60S) ribosomal subunit. MAK16 contains a redox-active [4Fe-4S] iron-sulfur cluster that is critical for its function 1. The protein operates as part of the WDR74 module, a pre-ribosomal subcomplex that coordinates early pre-rRNA cleavage and late 5.8S rRNA maturation through interactions with RPF1, RRP1, and the MTR4-exosome complex 2. MAK16 participates in polypeptide exit tunnel maturation and proper 27S rRNA processing, with its abnormal retention on pre-60S complexes disrupting downstream ribosomal assembly steps 3. The protein also regulates alternative splicing events associated with RNA processing during embryonic development 4. Clinically, MAK16 dysregulation has been implicated in systemic lupus erythematosus (SLE), where anti-MAK16 autoantibodies serve as a diagnostic biomarker associated with disease activity and rash manifestations 5. Additionally, MAK16 polymorphisms show significant association with adaptation to chr8 arsenic exposure and bladder cancer susceptibility in populations with elevated As exposure 6. The vulnerability of MAK16's iron-sulfur cluster to oxidative stress suggests it functions as a cellular redox sensor, potentially regulating ribosomal assembly under stress conditions 1.

Sources cited
1
MAK16 contains a redox-active [4Fe-4S] cluster essential for 60S ribosome maturation and functions as a redox sensor
PMID: 41231949
2
MAK16 is a component of the WDR74 module that coordinates early pre-rRNA cleavage and late 5.8S rRNA processing
PMID: 39706051
3
MAK16 participates in polypeptide exit tunnel maturation and proper 27S rRNA processing in 60S ribosome biogenesis
PMID: 35615984
4
MAK16 is a predicted RBP regulator associated with reproductive development and alternative splicing regulation
PMID: 38433915
5
Anti-MAK16 autoantibodies serve as SLE diagnostic biomarkers associated with disease activity and rash manifestations
PMID: 31899518
6
MAK16 variants show significant association with adaptation to arsenic exposure and bladder cancer susceptibility
PMID: 31384924
Disease Associationsⓘ20
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
inborn disorder of amino acid metabolismOpen Targets
0.27Weak
genetic disorderOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
ThromboembolismOpen Targets
0.10Suggestive
obesityOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
peritonitisOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
myotonic dystrophy type 1Open Targets
0.04Suggestive
response to stimulusOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
duodenitisOpen Targets
0.03Suggestive
cholelithiasisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRTO4Protein interaction99%WDR12Protein interaction99%KRR1Protein interaction95%RPL30Protein interaction95%NVLProtein interaction94%P2RY1Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
90%
Brain
78%
Ovary
68%
Liver
62%
Lung
57%
Gene Interaction Network
Click a node to explore
MAK16MRTO4WDR12KRR1RPL30NVLP2RY1
PROTEIN STRUCTURE
Preparing viewer…
PDB8FKV · 2.47 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.33]
RankingsWhere MAK16 stands among ~20K protein-coding genes
  • #7,683of 20,598
    Most Researched60
  • #1,387of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedMAK16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The MAK16 gene of Entamoeba histolytica and its identification in isolates from patients.
PMID: 25246723
Korean J Parasitol · 2014
1.00
2
The function of Mak16 in ribosome biogenesis depends on its [4Fe-4S] cluster.
PMID: 41231949
Proc Natl Acad Sci U S A · 2025
0.90
3
Discovery of new serum biomarker panels for systemic lupus erythematosus diagnosis.
PMID: 31899518
Rheumatology (Oxford) · 2020
0.80
4
Pre-ribosomal WDR74 module coordinates the early and late pre-rRNA processing stages for the NVL2-mediated regulation of 60S ribosome biogenesis.
PMID: 39706051
Biochem Biophys Res Commun · 2025
0.70
5
Translation initiation factor eIF4G1 modulates assembly of the polypeptide exit tunnel region in yeast ribosome biogenesis.
PMID: 35615984
J Cell Sci · 2022
0.60