PICK1

Chr 22

protein interacting with PRKCA 1

Also known as: PICK, PRKCABP

The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
21
Pubs (1 yr)
P/LP submissions
P/LP missense
0.67
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?
0.67LOEUF
pLI 0.008
Z-score 2.64
OE 0.36 (0.200.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.01Z-score
OE missense 0.65 (0.570.74)
172 obs / 264.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.36 (0.200.67)
00.351.4
Missense OE?0.65 (0.570.74)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 7 / 19.6Missense obs/exp: 172 / 264.0Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PICK1 · 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

No active trials found for this gene.

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