PBXIP1

Chr 1

PBX homeobox interacting protein 1

Also known as: HPIP

The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.92
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.000
Z-score 1.91
OE 0.64 (0.450.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.79Z-score
OE missense 0.89 (0.810.97)
363 obs / 408.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.450.92)
00.351.4
Missense OE?0.89 (0.810.97)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 21 / 32.8Missense obs/exp: 363 / 408.1Syn Z: 1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PBXIP1 · 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.

Search ClinicalTrials.gov →