SLC37A1

Chr 21

solute carrier family 37 member 1

Also known as: G3PP, SPX1

NCBI Gene: 54020ENSG00000160190UniProt: P57057

The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Research Assistant →
0
Active trials
2
Pubs (1 yr)
90
P/LP submissions
0%
P/LP missense
0.56
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— SLC37A1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.35) despite low pLI — interpret in context.
📋
ClinVar Variants
84 unique Pathogenic / Likely Pathogenic· 94 VUS of 232 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.001
Z-score 3.55
OE 0.35 (0.22–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.30Z-score
OE missense 0.80 (0.72–0.88)
265 obs / 331.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.35 (0.22–0.56)
0≤0.351.4
Missense OE0.80 (0.72–0.88)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 12 / 34.5Missense obs/exp: 265 / 331.9Syn Z: -0.03
DN
0.82top 10%
GOF
0.73top 25%
LOF
0.2190th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

232 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic81
Likely Pathogenic3
VUS94
Likely Benign16
Benign10
Conflicting1
81
Pathogenic
3
Likely Pathogenic
94
VUS
16
Likely Benign
10
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
81
0
81
Likely Pathogenic
0
0
3
0
3
VUS
0
84
10
0
94
Likely Benign
0
8
8
0
16
Benign
0
3
3
4
10
Conflicting
—1
Total0951054205

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC37A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Genome-wide association analysis of milk production, somatic cell score, and body conformation traits in Holstein cows
Wang P et al.·Front Vet Sci
2022
Transcriptional signatures associated with rubella virus-specific humoral immunity after a third dose of MMR vaccine in women of childbearing age.
Haralambieva IH et al.·Eur J Immunol
2021
Comparative Signatures of Selection Analyses Identify Loci Under Positive Selection in the Murrah Buffalo of India
Tyagi SK et al.·Front Genet
2021
Detection of selection signatures in indigenous African cattle reveals genomic footprints of adaptation, production and temperament traits
Okwasiimire R et al.·Mamm Genome
2026
Restoration of mRNA Expression of Solute Carrier Proteins in Liver of Diet-Induced Obese Mice by Metformin
Le J et al.·Front Endocrinol (Lausanne)
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients