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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHP1
calcineurin like EF-hand protein 1
Chromosome 15 · 15q15.1
NCBI Gene: 11261Ensembl: ENSG00000187446.12HGNC: HGNC:17433UniProt: H0YKE7
111PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
focal adhesionprotein bindingcalcium-dependent protein bindingcalcium ion bindingneurodegenerative diseaseautosomal recessive spastic ataxiaspastic ataxia 9, autosomal recessivelysosomal storage disease
✦AI Summary

CHP1 (calcineurin-like EF-hand protein 1) is a multifunctional calcium-binding protein with roles in cellular homeostasis and protein quality control. Structurally, CHP1 contains EF-hand motifs enabling calcium-dependent conformational changes that regulate its interactions with partner proteins 1. Primary functions include: (1) Regulation of sodium-proton exchangers NHE1 and NHE3 at the plasma membrane, where CHP1 binding promotes their biosynthetic maturation, cell surface expression, and pH-sensitivity 23; (2) Stabilization and activation of glycerol-3-phosphate acyltransferases (GPAT3/4) essential for triacylglycerol synthesis and lipid droplet growth 4; (3) Cotranslational chaperoning of eukaryotic elongation factor 1A (eEF1A) biogenesis at the ribosome, preventing proteolysis and protein aggregation 5; (4) Negative regulation of calcineurin phosphatase activity, thereby inhibiting endocytosis and NFAT signaling. Disease relevance: CHP1 mutations cause autosomal recessive spastic ataxia 9. CHP1 reduction ameliorates spinal muscular atrophy (SMA) pathology by restoring calcineurin activity and endocytosis 6. In clear cell renal cell carcinoma, CHP1 downregulation is a novel feature of malignant progression, with high CHP1 expression correlating with improved prognosis 7. These findings establish CHP1 as a critical integrator of calcium signaling, metabolic regulation, and proteostasis with implications for neurological and metabolic disease therapeutics.

Sources cited
1
CHP1 promotes NHE1 biosynthetic maturation, cell surface expression, and pH-sensitivity; cryo-EM structures reveal NHE1-CHP1 complex dynamics
PMID: 34108458
2
CHP1 facilitates NHE3 maturation, plasmalemmal expression, and pH sensitivity; autoinhibitory mechanism in NHE3-CHP1 complex
PMID: 35613257
3
CHP1 is critical regulator of GPAT3 and GPAT4 stability, activity, and lipid droplet localization; regulates TAG synthesis pathway
PMID: 40875810
4
Chp1 is dedicated ribosome-associated chaperone safeguarding eEF1A biogenesis; prevents proteolysis and protein aggregation
PMID: 38360885
5
CHP1 reduction ameliorates SMA pathology by restoring calcineurin activity and endocytosis; identified as PLS3 interacting protein
PMID: 29961886
6
CHP1 downregulation is novel molecular feature of clear cell RCC progression; high CHP1 expression correlates with improved prognosis
PMID: 40723891
7
Calcium induces conformational changes in CHP1 affecting its interaction with NHE1; isoform-specific regulatory differences between CHP1 and CHP2
PMID: 31912575
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.49Moderate
autosomal recessive spastic ataxiaOpen Targets
0.46Moderate
spastic ataxia 9, autosomal recessiveOpen Targets
0.40Moderate
lysosomal storage diseaseOpen Targets
0.28Weak
sexually transmitted diseaseOpen Targets
0.27Weak
glomerulonephritisOpen Targets
0.27Weak
hypertensionOpen Targets
0.21Weak
cardiovascular diseaseOpen Targets
0.17Weak
intestinal diseaseOpen Targets
0.17Weak
nephrolithiasisOpen Targets
0.15Weak
atopic asthmaOpen Targets
0.14Weak
childhood onset asthmaOpen Targets
0.14Weak
COVID-19Open Targets
0.12Weak
bladder calculusOpen Targets
0.12Weak
Increased blood pressureOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.11Weak
essential hypertensionOpen Targets
0.09Suggestive
HIV infectionOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
Spastic ataxia 9, autosomal recessiveUniProt
Pathogenic Variants1
NM_007236.5(CHP1):c.52AAG[1] (p.Lys19del)Pathogenic
Spastic ataxia 9, autosomal recessive
☆☆☆☆2025→ Residue 19
View on ClinVar ↗
Related Genes
SLC9A1Protein interaction100%HS1BP3Protein interaction76%CER1Protein interaction76%PAPOLBProtein interaction72%SLC9A3Protein interaction65%GPAT4Co-mentioned in literature20%
Tissue Expression6 tissues
Liver
100%
Heart
59%
Lung
56%
Brain
53%
Bone Marrow
31%
Ovary
17%
Gene Interaction Network
Click a node to explore
CHP1SLC9A1HS1BP3CER1PAPOLBSLC9A3GPAT4
PROTEIN STRUCTURE
Preparing viewer…
PDB7X2U · 3.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.48Tolerant
Observed/Expected LoF0.38 [0.22–0.69]
RankingsWhere CHP1 stands among ~20K protein-coding genes
  • #4,263of 20,598
    Most Researched111 · top quartile
  • #4,852of 5,498
    Most Pathogenic Variants1
  • #5,216of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedCHP1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Chlamydia bacteriophages.
PMID: 23903989
Arch Microbiol · 2013
1.00
2
Structure and mechanism of the human NHE1-CHP1 complex.
PMID: 34108458
Nat Commun · 2021
0.90
3
Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.
PMID: 38360885
Nat Commun · 2024
0.80
4
CHP1 promotes lipid droplet growth and regulates the localization of key enzymes for triacylglycerol synthesis.
PMID: 40875810
Proc Natl Acad Sci U S A · 2025
0.70
5
Targeting Sodium Transport Reveals CHP1 Downregulation as a Novel Molecular Feature of Malignant Progression in Clear Cell Renal Cell Carcinoma: Insights from Integrated Multi-Omics Analyses.
PMID: 40723891
Biomolecules · 2025
0.60