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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SAYSD1
SAYSVFN motif domain containing 1
Chromosome 6 Β· 6p21.2
NCBI Gene: 55776Ensembl: ENSG00000112167.11HGNC: HGNC:21025UniProt: Q9NPB0
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
UFM1-modified protein reader activityprotein quality control for misfolded or incompletely synthesized proteinsrescue of stalled cytosolic ribosomeendoplasmic reticulumneurodegenerative diseasemigraine disorderpreeclampsiaaneurysm
✦AI Summary

Based on limited published evidence, SAYSD1 functions as a ufmylation 'reader' component in translocation-associated quality control 1. It recognizes and binds ufmylated ribosomes when translation stalls, promoting transport of stalled nascent chains via the TRAPP complex to lysosomes for degradation 1. This mechanism is essential for removing clogged substrates and maintaining protein quality control at the endoplasmic reticulum during ribosomal rescue.

Sources cited
1
SAYSD1 is a ufmylation reader that binds ufmylated stalled ribosomes and promotes transport via TRAPP complex to lysosomes for degradation
PMID: 36848233
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.26Weak
migraine disorderOpen Targets
0.24Weak
preeclampsiaOpen Targets
0.23Weak
aneurysmOpen Targets
0.22Weak
medical procedureOpen Targets
0.19Weak
myocardial infarctionOpen Targets
0.16Weak
coronary artery diseaseOpen Targets
0.15Weak
urolithiasisOpen Targets
0.15Weak
bladder calculusOpen Targets
0.14Weak
Increased blood pressureOpen Targets
0.14Weak
hypertensionOpen Targets
0.13Weak
nephrolithiasisOpen Targets
0.13Weak
essential hypertensionOpen Targets
0.11Weak
Moderate albuminuriaOpen Targets
0.11Weak
azoospermiaOpen Targets
0.09Suggestive
spermatogenic failure 8Open Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 1Open Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ANKZF1Shared pathway50%PTRH1Shared pathway50%ELAC1Shared pathway33%ZSWIM8Shared pathway33%TCF25Shared pathway33%LONRF2Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
96%
Heart
78%
Liver
78%
Ovary
64%
Lung
58%
Gene Interaction Network
Click a node to explore
SAYSD1ANKZF1PTRH1ELAC1ZSWIM8TCF25LONRF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NPB0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.12 [0.78–1.63]
RankingsWhere SAYSD1 stands among ~20K protein-coding genes
  • #14,803of 20,598
    Most Researched18
  • #15,807of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedSAYSD1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Long Non-Coding RNA Landscape in Prostate Cancer Molecular Subtypes: A Feature Selection Approach.
PMID: 33672425
Int J Mol Sci Β· 2021
1.00