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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BLZF1
basic leucine zipper nuclear factor 1
Chromosome 1 · 1q24.2
NCBI Gene: 8548Ensembl: ENSG00000117475.15HGNC: HGNC:1065UniProt: Q9H2G9
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusGolgi organizationGolgi to plasma membrane protein transportprotein bindingneurodegenerative diseaseMyocardial Ischemiacardiovascular diseaseocclusion precerebral artery
✦AI Summary

BLZF1 (basic leucine zipper nuclear factor 1) is a ubiquitously expressed 45-kDa nuclear protein encoded by a 3-kb mRNA that plays critical roles in intracellular protein trafficking and transcriptional regulation 1. Functionally, BLZF1 is required for maintaining normal Golgi apparatus structure and mediating protein transport from the endoplasmic reticulum through the Golgi to the cell surface. The protein exhibits dual localization patterns: a full-length form accumulates in the nucleus while an alternatively spliced 23-kDa isoform localizes cytoplasmically 1. BLZF1 functions as a transcriptional regulator interacting directly with DNMT3L and other transcription factors to direct site-specific DNA methylation 2, and serves as a substrate for tankyrase-dependent PARsylation and RNF146-mediated degradation in Wnt/β-catenin signaling regulation 3. In disease contexts, BLZF1 has documented relevance to tumorigenesis: it acts as a Golgi-localizing partner for mutant KIT in gastrointestinal stromal tumors, facilitating aberrant signaling and drug resistance 4. Reduced BLZF1 expression in hepatocellular carcinoma correlates with poor prognosis and increased recurrence risk 5. Additionally, BLZF1 variants associate with venous thromboembolism susceptibility 6, suggesting broader cardiovascular relevance.

Sources cited
1
BLZF1 codes for ubiquitously expressed 3-kb mRNA translated to 45-kDa nuclear protein; alternatively spliced 1.3-kb transcript produces 23-kDa cytoplasmic protein
PMID: 11056056
2
BLZF1 tethers mutant KIT to Golgi complex in gastrointestinal stromal tumors; BLZF1 knockdown suppresses GIST cell growth
PMID: 37704840
3
BLZF1 directly interacts with DNMT3L transcription factor to direct site-specific DNA methylation
PMID: 24952347
4
BLZF1 is a substrate of tankyrase and RNF146 for PARsylation-directed degradation in Wnt signaling
PMID: 21478859
5
Decreased BLZF1 expression in hepatocellular carcinoma is associated with poor overall survival and tumor recurrence
PMID: 26342799
6
BLZF1 SNP rs7538157 on chromosome 1q24.2 shows genome-wide significant association with venous thromboembolism risk
PMID: 22672568
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
Myocardial IschemiaOpen Targets
0.12Weak
cardiovascular diseaseOpen Targets
0.11Weak
occlusion precerebral arteryOpen Targets
0.10Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
blood coagulation diseaseOpen Targets
0.09Suggestive
endometriosisOpen Targets
0.09Suggestive
Abnormality of limbsOpen Targets
0.09Suggestive
musculoskeletal system diseaseOpen Targets
0.09Suggestive
benign lipomatous neoplasmOpen Targets
0.08Suggestive
deep vein thrombosisOpen Targets
0.08Suggestive
hemorrhoidOpen Targets
0.07Suggestive
atherosclerosisOpen Targets
0.07Suggestive
ThromboembolismOpen Targets
0.06Suggestive
purpuraOpen Targets
0.06Suggestive
angina pectorisOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
lipomaOpen Targets
0.06Suggestive
vein disorderOpen Targets
0.06Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB2AProtein interaction100%ACBD3Protein interaction90%GORASP1Protein interaction80%GOLGA2Protein interaction73%GOLGA5Protein interaction73%MBD4Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
76%
Ovary
42%
Liver
36%
Lung
35%
Brain
33%
Gene Interaction Network
Click a node to explore
BLZF1RAB2AACBD3GORASP1GOLGA2GOLGA5MBD4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H2G9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.67–1.15]
RankingsWhere BLZF1 stands among ~20K protein-coding genes
  • #8,282of 20,598
    Most Researched54
  • #11,898of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedBLZF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region.
PMID: 11056056
Genomics · 2000
1.00
2
Identification of novel pathogenic roles of BLZF1/ATF6 in tumorigenesis of gastrointestinal stromal tumor showing Golgi-localized mutant KIT.
PMID: 37704840
Cell Death Differ · 2023
0.90
3
Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia.
PMID: 29626196
Leukemia · 2018
0.80
4
DNMT3L interacts with transcription factors to target DNMT3L/DNMT3B to specific DNA sequences: role of the DNMT3L/DNMT3B/p65-NFκB complex in the (de-)methylation of TRAF1.
PMID: 24952347
Biochimie · 2014
0.70
5
BLZF1 expression is of prognostic significance in hepatocellular carcinoma.
PMID: 26342799
Biochem Biophys Res Commun · 2015
0.60