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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIH1D1
PIH1 domain containing 1
Chromosome 19 · 19q13.33
NCBI Gene: 55011Ensembl: ENSG00000104872.13HGNC: HGNC:26075UniProt: Q9NWS0
102PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase I cis-regulatory region sequence-specific DNA bindingregulation of TORC2 signalingprotein bindingprotein kinase bindingneurodegenerative diseasemood disordermental or behavioural disorderbreast cancer
✦AI Summary

PIH1D1 is a key adapter protein within the R2TP chaperone complex that facilitates assembly of diverse macromolecular complexes essential for cellular homeostasis. The protein functions as part of the HSP90 co-chaperone system, consisting of RUVBL1/RUVBL2 AAA+ ATPases, RPAP3, and PIH1D1 1. PIH1D1 contains a specialized PIH phospho-binding domain that recognizes CK2 phosphorylation sites on client proteins, enabling phosphorylation-dependent recruitment to the HSP90 system 2. The protein plays critical roles in assembling C/D box small nucleolar ribonucleoprotein particles and supports the stability of PIKK family kinases including MTOR and SMG1 through interaction with the TELO2-TTI1-TTI2 complex 3. PIH1D1 also facilitates assembly of the Tuberous Sclerosis Complex (TSC) by directly binding TSC1, while RPAP3 and HSP90 recruit TSC2 1. Additionally, PIH1D1 regulates MRE11 stability through CK2-dependent interactions, supporting DNA damage repair processes 4. Clinically, PIH1D1 expression correlates with poor prognosis in diffuse large B-cell lymphoma, suggesting roles in oncogenesis 5. The protein's diverse functions highlight its importance in protein homeostasis, signaling pathways, and disease development 6.

Sources cited
1
PIH1D1 is part of R2TP chaperone complex and facilitates TSC complex assembly through direct TSC1 binding
PMID: 39490680
2
PIH1D1 contains phospho-binding domain that recognizes CK2 phosphorylation sites for client recruitment
PMID: 24794838
3
PIH1D1 supports PIKK stability through interaction with TELO2-TTI1-TTI2 complex
PMID: 34838521
4
PIH1D1 regulates MRE11 stability through CK2-dependent interactions for DNA damage repair
PMID: 28436950
5
PIH1D1 expression correlates with poor prognosis in diffuse large B-cell lymphoma
PMID: 35078195
6
PIH1D1 functions in diverse biological processes including protein homeostasis and disease development
PMID: 41424038
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
mood disorderOpen Targets
0.05Suggestive
mental or behavioural disorderOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
brain cancerOpen Targets
0.01Suggestive
diffuse large B-cell lymphomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
brain neoplasmOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
exfoliation syndromeOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cystic kidney diseaseOpen Targets
0.00Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PFDN2Protein interaction100%UXTProtein interaction100%RUVBL1Protein interaction100%URI1Protein interaction100%TTI1Protein interaction100%TELO2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
85%
Ovary
75%
Lung
71%
Brain
48%
Heart
43%
Gene Interaction Network
Click a node to explore
PIH1D1PFDN2UXTRUVBL1URI1TTI1TELO2
PROTEIN STRUCTURE
Preparing viewer…
PDB7AVC · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.54–1.02]
RankingsWhere PIH1D1 stands among ~20K protein-coding genes
  • #4,687of 20,598
    Most Researched102 · top quartile
  • #9,946of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPIH1D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The HSP90/R2TP Quaternary Chaperone Scaffolds Assembly of the TSC Complex.
PMID: 39490680
J Mol Biol · 2024
1.00
2
PIH1D1 and RPAP3, Components of the PAQosome: Emerging Roles in Cellular Physiology.
PMID: 41424038
Mol Cell Biol · 2026
0.90
3
Structure of the Human TELO2-TTI1-TTI2 Complex.
PMID: 34838521
J Mol Biol · 2022
0.80
4
Deep Structural Analysis of RPAP3 and PIH1D1, Two Components of the HSP90 Co-chaperone R2TP Complex.
PMID: 30033218
Structure · 2018
0.70
5
MRE11 stability is regulated by CK2-dependent interaction with R2TP complex.
PMID: 28436950
Oncogene · 2017
0.60