MFSD1

Chr 3

major facilitator superfamily domain containing 1

Also known as: Minerva, SLC72A1, SMAP4

NCBI Gene: 64747 ENSG00000118855 UniProt: Q9H3U5 OMIM: 619976

Enables dipeptide uniporter activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.48

OE 0.91 (0.67–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.91–1.11)

280 obs / 278.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.91 (0.67–1.25)

0≤0.351.4

Missense OE?1.00 (0.91–1.11)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 27 / 29.8Missense obs/exp: 280 / 278.9Syn Z: -0.92

Background carrier burden — how many people carry a rare variant somewhere in MFSD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 68

821 rare PASS variants

Rare truncating (LoF)

1 in 470

175 rare PASS variants

Rare synonymous (reference)

1 in 130

331 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MFSD1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 88	1 in 540
South Asian	~43k	1 in 97	1 in 370
Remaining (unassigned)	~30k	1 in 69	1 in 510
European (Finnish)	~27k	1 in 280	1 in 850
Admixed American	~22k	1 in 88	1 in 340
African / African American	~21k	1 in 63	1 in 380
East Asian	~20k	1 in 71	1 in 330
Ashkenazi Jewish	~13k	1 in 210	1 in 380
Middle Eastern	~2,884	1 in 96	≈ 1 in 690

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 13 of 16 coding exons well covered in gnomAD exomes; exons 8, 9, 15 marginal. Genomes: all 16.? see exons ↓