AP5S1 — adaptor related protein complex 5 subunit sigma 1

5 sources retrieved · Most recent: April 2026 · Index updated 6 months ago

13PubMed Papers

#16,149 · top 83% of 19K genes

12Diseases

top 96%

0Drugs

0Pathogenic Variants

DNA RepairHomologous RecombinationTransporterExperimental GO EvidenceSwiss-Prot Reviewed

protein bindingdouble-strand break repair via homologous recombinationendosomal transportlysosomejaw diseasethyroid gland carcinomatype 2 diabetes mellitusmajor depressive disorder

AI Summary

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adaptor related protein complex 5 subunit sigma 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations12

jaw diseaseOpen Targets

0.20Weak

thyroid gland carcinomaOpen Targets

0.18Weak

type 2 diabetes mellitusOpen Targets

0.02Suggestive

major depressive disorderOpen Targets

0.02Suggestive

acute tonsillitisOpen Targets

0.02Suggestive

schizophreniaOpen Targets

0.00Suggestive

cardiovascular disorderOpen Targets

0.00Suggestive

hereditary spastic paraplegiaOpen Targets

0.00Suggestive

Hermansky-Pudlak syndromeOpen 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.

Tissue Expression6 tissues

Liver

100%

Heart

81%

Brain

55%

Bone Marrow

55%

Lung

50%

Ovary

48%

Gene Interaction Network6 neighbors

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Structure2 PDB hits

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PDB8YAB · 3.26 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.53LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.97 [0.63–1.53]

Rankings2 dim

Where AP5S1 stands among ~20K protein-coding genes

#16,092of 20,598
Most Researched13
#15,332of 17,882
Most Constrained (LOEUF)1.53