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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GPBP1L1
GC-rich promoter binding protein 1 like 1
Chromosome 1 Β· 1p34.1
NCBI Gene: 60313Ensembl: ENSG00000159592.12HGNC: HGNC:28843UniProt: Q9HC44
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activityregulation of DNA-templated transcriptionnucleusage-related hearing impairmenttype 2 diabetes mellitushearing losssubstance-related disorder
✦AI Summary

Based on limited published evidence, GPBP1L1 is a possible transcription factor with DNA-binding and protein-binding capabilities localized to the nucleus, where it may regulate DNA-templated transcription. The gene was identified as a potential cardiac-relevant locus in a study of stress cardiomyopathy patients, where copy number variants in GPBP1L1 were observed in individuals with earthquake-induced takotsubo syndrome 1. However, functional characterization remains incomplete.

Sources cited
1
GPBP1L1 copy number variants were identified in stress cardiomyopathy patients, suggesting potential cardiac relevance, though functional role is unclear
PMID: 29765130
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
age-related hearing impairmentOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
hearing lossOpen Targets
0.10Weak
substance-related disorderOpen Targets
0.10Suggestive
joint diseaseOpen Targets
0.03Suggestive
knee injuryOpen Targets
0.03Suggestive
Eczematoid dermatitisOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9HC44
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.18Tolerant
Observed/Expected LoF0.42 [0.29–0.62]
RankingsWhere GPBP1L1 stands among ~20K protein-coding genes
  • #12,356of 20,598
    Most Researched28
  • #4,337of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedGPBP1L1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.
PMID: 29765130
Sci Rep Β· 2018
1.00