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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SACM1L
SAC1 like phosphatidylinositide phosphatase
Chromosome 3 · 3p21.31
NCBI Gene: 22908Ensembl: ENSG00000211456.14HGNC: HGNC:17059UniProt: A0A5F9ZHN7
95PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusGolgi membraneendoplasmic reticulum membraneprotein bindingneurodegenerative diseaseplacenta praeviaalcohol drinkingneuroinflammatory disorder
✦AI Summary

SACM1L is a phosphoinositide phosphatase that primarily catalyzes the hydrolysis of phosphatidylinositol 4-phosphate (PtdIns(4)P) and shows optimal activity when binding PtdIns(4)P in 'cis' configuration 1234. The enzyme can also hydrolyze phosphatidylinositol 3-phosphate (PtdIns(3)P) and has low activity towards phosphatidylinositol-3,5-bisphosphate. SACM1L functions in cellular membrane regulation and autophagy, where its enzymatic activity is essential for suppressing intracellular bacterial replication by preventing PtdIns(4)P accumulation on bacteria-containing autophagosomes, thereby facilitating proper fusion with lysosomes 5. The enzyme also controls Golgi V-ATPase assembly through regulation of trans-Golgi network membrane composition, maintaining proper cholesterol and PtdIns(4)P balance 6. Disease associations include COVID-19 severity, where SACM1L is identified as a putative causal gene 7, and intervertebral disc degeneration, where it shows elevated expression 8. Additionally, genetic variants in SACM1L are associated with sexual side-effects from bupropion antidepressant therapy 9.

Sources cited
1
SACM1L catalyzes hydrolysis of PtdIns(4)P with optimal activity in 'cis' configuration
PMID: 24209621
2
SACM1L catalyzes hydrolysis of PtdIns(4)P
PMID: 27044890
3
SACM1L shows robust PtdIns(4)P phosphatase activity in 'cis' configuration
PMID: 29461204
4
SACM1L shows robust PtdIns(4)P phosphatase activity in 'cis' configuration
PMID: 30659099
5
SACM1L enzymatic activity is required to suppress intracellular bacterial replication and prevent PtdIns(4)P accumulation on autophagosomes
PMID: 34812102
6
SACM1L controls Golgi V-ATPase assembly through regulation of trans-Golgi network membrane composition
PMID: 40841558
7
SACM1L is identified as a putative causal gene for COVID-19 severity
PMID: 34183789
8
SACM1L shows elevated expression in intervertebral disc degeneration
PMID: 41381667
9
Genetic variants in SACM1L are associated with sexual side-effects from bupropion therapy
PMID: 22041458
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
placenta praeviaOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.28Weak
neuroinflammatory disorderOpen Targets
0.18Weak
infectionOpen Targets
0.06Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
8p23.1 microdeletion syndromeOpen Targets
0.04Suggestive
familial male-limited precocious pubertyOpen Targets
0.04Suggestive
testicular agenesisOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
X-linked intellectual disability - acromegaly - hyperactivityOpen Targets
0.03Suggestive
X-linked intellectual disability-acromegaly-hyperactivity syndromeOpen Targets
0.03Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.03Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.03Suggestive
postinflammatory pulmonary fibrosisOpen Targets
0.02Suggestive
lumbar disc degenerationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MTMR7Shared pathway67%MTMR1Shared pathway50%MTMR6Shared pathway50%FIG4Shared pathway50%MTMR12Shared pathway50%MTMR9Shared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
64%
Heart
63%
Brain
61%
Liver
58%
Ovary
49%
Gene Interaction Network
Click a node to explore
SACM1LMTMR7MTMR1MTMR6FIG4MTMR12MTMR9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NTJ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.27 [0.15–0.51]
RankingsWhere SACM1L stands among ~20K protein-coding genes
  • #5,059of 20,598
    Most Researched95 · top quartile
  • #3,128of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedSACM1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Innate host defense mechanisms SAC bacteria by regulating phosphoinositide kinases and phosphatases.
PMID: 34812102
Autophagy · 2022
1.00
2
Control of Golgi- V-ATPase through Sac1-dependent co-regulation of PI(4)P and cholesterol.
PMID: 40841558
Nat Commun · 2025
0.90
3
Bioinformatics Analysis of Common Genetic and Molecular Traits and Association of Portal Hypertension with Pulmonary Hypertension.
PMID: 36312597
J Healthc Eng · 2022
0.80
4
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity.
PMID: 34183789
Genet Med · 2021
0.70
5
Integrative Placental Multi-Omics Analysis Reveals Perturbed Pathways and Potential Prognostic Biomarkers in Gestational Hypertension.
PMID: 37984232
Arch Med Res · 2024
0.60