SLC22A1

Chr 6

solute carrier family 22 member 1

Also known as: HOCT1, OCT1, oct1_cds

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
33
Pubs (1 yr)
P/LP submissions
P/LP missense
1.67
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.67LOEUF
pLI 0.000
Z-score -1.09
OE 1.24 (0.931.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.09Z-score
OE missense 1.01 (0.931.11)
339 obs / 334.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.24 (0.931.67)
00.351.4
Missense OE?1.01 (0.931.11)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 30 / 24.2Missense obs/exp: 339 / 334.1Syn Z: -0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC22A1 · protein map & ClinVar variants

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