HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AP5S1
adaptor related protein complex 5 subunit sigma 1
Chromosome 20 Β· 20p13
NCBI Gene: 55317Ensembl: ENSG00000125843.13HGNC: HGNC:15875UniProt: Q9NUS5
13PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdouble-strand break repair via homologous recombinationendosomal transportlysosomejaw diseasemyeloid sarcomacardiovascular diseasehereditary spastic paraplegia
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

adaptor related protein complex 5 subunit sigma 1

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜7
jaw diseaseOpen Targets
0.26Weak
myeloid sarcomaOpen Targets
0.01Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
hereditary spastic paraplegiaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
SPG11Protein interaction99%AP5Z1Protein interaction96%AP2A1Protein interaction94%AP2A2Protein interaction94%AP2B1Protein interaction94%AP2M1Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Heart
81%
Brain
55%
Bone Marrow
55%
Lung
50%
Ovary
48%
Gene Interaction Network
Click a node to explore
AP5S1SPG11AP5Z1AP2A1AP2A2AP2B1AP2M1
PROTEIN STRUCTURE
Preparing viewer…
PDB8YAB Β· 3.26 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.63–1.53]
RankingsWhere AP5S1 stands among ~20K protein-coding genes
  • #16,092of 20,598
    Most Researched13
  • #15,332of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedAP5S1
Sources retrieved0 papers
Response timeβ€”