RTP1

Chr 3

receptor transporter protein 1

Also known as: Z3CXXC1

NCBI Gene: 132112 ENSG00000175077 UniProt: P59025

Enables olfactory receptor binding activity. Involved in protein insertion into membrane. Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables olfactory receptor binding activity. Involved in protein insertion into membrane. Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.34

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.34LOEUF

pLI 0.000

Z-score 0.73

OE 0.77 (0.46–1.34)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.45Z-score

OE missense 1.10 (0.97–1.23)

193 obs / 176.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.77 (0.46–1.34)

0≤0.351.4

Missense OE?1.10 (0.97–1.23)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 9 / 11.7Missense obs/exp: 193 / 176.2Syn Z: -0.44

Background carrier burden — how many people carry a rare variant somewhere in RTP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

364 rare PASS variants

Rare truncating (LoF)

1 in 850

57 rare PASS variants

Rare synonymous (reference)

1 in 400

161 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RTP1. 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 180	1 in 1,200
South Asian	~43k	1 in 170	1 in 1,200
Remaining (unassigned)	~30k	1 in 110	1 in 1,800
European (Finnish)	~27k	1 in 550	none seen
Admixed American	~22k	1 in 120	1 in 2,200
African / African American	~21k	1 in 110	1 in 700
East Asian	~20k	1 in 160	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 460	none seen
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓