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Aliases for BLZF1 Gene

Aliases for BLZF1 Gene

  • Basic Leucine Zipper Nuclear Factor 1 2 3 4 5
  • P45 Basic Leucine-Zipper Nuclear Factor 3 4
  • JEM-1 3 4
  • JEM1 3 4
  • Cytoplasmic Protein 3
  • JEM-1short Protein 3
  • GOLGIN-45 3
  • JEM-1s 3

External Ids for BLZF1 Gene

Previous GeneCards Identifiers for BLZF1 Gene

  • GC01P166966
  • GC01P164988
  • GC01P166033
  • GC01P166524
  • GC01P166068
  • GC01P167603
  • GC01P140560

Summaries for BLZF1 Gene

GeneCards Summary for BLZF1 Gene

BLZF1 (Basic Leucine Zipper Nuclear Factor 1) is a Protein Coding gene. Diseases associated with BLZF1 include Paraneoplastic Cerebellar Degeneration and Lissencephaly, X-Linked, 1. Among its related pathways are Mitotic Prophase and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for BLZF1 Gene

  • Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.

Gene Wiki entry for BLZF1 Gene

Additional gene information for BLZF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLZF1 Gene

Genomics for BLZF1 Gene

GeneHancer (GH) Regulatory Elements for BLZF1 Gene

Promoters and enhancers for BLZF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I169362 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 -2.0 -1967 7.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 NME7 BLZF1 C1orf112 CCDC181 METTL18 ENSG00000235575
GH01I169889 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 +524.3 524280 5.5 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SCYL3 METTL18 C1orf112 KIFAP3 BLZF1 RN7SL333P GC01M169872
GH01I169089 Enhancer 0.7 dbSUPER 10.3 -274.9 -274859 6.7 PKNOX1 EBF1 BATF IRF4 ZNF143 ATF7 IKZF2 RUNX3 SRF MCM3 SCYL3 C1orf112 RN7SL333P METTL18 BLZF1 SELP LINC00970 LOC101928596
GH01I169584 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.7 +217.8 217845 2.4 HDGF FOXA2 ARID4B DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GLIS2 ZNF143 F5 SCYL3 BLZF1 SLC19A2 GC01P169565
GH01I169494 Enhancer 0.7 FANTOM5 ENCODE 3.1 +127.4 127446 0.9 MITF FOSL1 EBF1 FOS NME7 CCDC181 SLC19A2 BLZF1 GC01P169489 GC01P169565
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BLZF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BLZF1 gene promoter:

Genomic Locations for BLZF1 Gene

Genomic Locations for BLZF1 Gene
28,589 bases
Plus strand

Genomic View for BLZF1 Gene

Genes around BLZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLZF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLZF1 Gene

Proteins for BLZF1 Gene

  • Protein details for BLZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O15298
    • Q5T531
    • Q5T533
    • Q9GZX4

    Protein attributes for BLZF1 Gene

    400 amino acids
    Molecular mass:
    44910 Da
    Quaternary structure:
    • Interacts with GORASP2 and with the GTP-bound form of RAB2, but not with other Golgi Rab proteins. GORASP2 and BLZF1 form a RAB2 effector complex on medial Golgi.

    Alternative splice isoforms for BLZF1 Gene


neXtProt entry for BLZF1 Gene

Post-translational modifications for BLZF1 Gene

  • ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.
  • Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.

No data available for DME Specific Peptides for BLZF1 Gene

Domains & Families for BLZF1 Gene

Gene Families for BLZF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BLZF1 Gene


Suggested Antigen Peptide Sequences for BLZF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
genes like me logo Genes that share domains with BLZF1: view

Function for BLZF1 Gene

Molecular function for BLZF1 Gene

GENATLAS Biochemistry:
basic leucine zipper nuclear factor,45kDa,upregulated during retinoid-induced maturation of NB4-promyelocytic leukemia cells
UniProtKB/Swiss-Prot Function:
Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.
UniProtKB/Swiss-Prot Induction:
Up-regulated by retinoids.

Phenotypes From GWAS Catalog for BLZF1 Gene

Gene Ontology (GO) - Molecular Function for BLZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9129147
GO:0003700 DNA binding transcription factor activity NAS 9129147
GO:0005515 protein binding IPI 25416956
GO:0019899 enzyme binding IPI 21478859
GO:0031625 ubiquitin protein ligase binding IPI 21478859
genes like me logo Genes that share ontologies with BLZF1: view
genes like me logo Genes that share phenotypes with BLZF1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BLZF1 Gene

Localization for BLZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLZF1 Gene

Golgi apparatus lumen.
Isoform 1: Nucleus.
Isoform 2: Cytoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLZF1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BLZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus NAS,IDA 9129147
GO:0005737 cytoplasm NAS 11056056
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005796 Golgi lumen IEA --
genes like me logo Genes that share ontologies with BLZF1: view

Pathways & Interactions for BLZF1 Gene

genes like me logo Genes that share pathways with BLZF1: view

Pathways by source for BLZF1 Gene

Gene Ontology (GO) - Biological Process for BLZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 9129147
GO:0006357 regulation of transcription by RNA polymerase II TAS 9129147
GO:0006810 transport IEA --
GO:0007030 Golgi organization IEA,IDA 11739401
GO:0008283 cell proliferation TAS 9129147
genes like me logo Genes that share ontologies with BLZF1: view

No data available for SIGNOR curated interactions for BLZF1 Gene

Drugs & Compounds for BLZF1 Gene

(48) Drugs for BLZF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(43) Additional Compounds for BLZF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BLZF1: view

Transcripts for BLZF1 Gene

Unigene Clusters for BLZF1 Gene

Basic leucine zipper nuclear factor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLZF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6
SP1: - - -
SP2: - -
SP3: - - -
SP4: - -
SP5: -

Relevant External Links for BLZF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BLZF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BLZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BLZF1 Gene

This gene is overexpressed in Plasma (35.7) and Bone marrow mesenchymal stem cell (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BLZF1 Gene

Protein tissue co-expression partners for BLZF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BLZF1 Gene:


SOURCE GeneReport for Unigene cluster for BLZF1 Gene:


mRNA Expression by UniProt/SwissProt for BLZF1 Gene:

Tissue specificity: Ubiquitous. Also found in cell lines derived from several hematopoietic pathologies, such as T-cell leukemia, pro-B, pre-B, myeloma, and plasmacytoma cell lines, but not in Burkitt lymphoma cells.

Evidence on tissue expression from TISSUES for BLZF1 Gene

  • Liver(4.2)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with BLZF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLZF1 Gene

Orthologs for BLZF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BLZF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BLZF1 33 34
  • 99.67 (n)
(Canis familiaris)
Mammalia BLZF1 33 34
  • 90.67 (n)
(Bos Taurus)
Mammalia BLZF1 33 34
  • 90.25 (n)
(Mus musculus)
Mammalia Blzf1 33 16 34
  • 83.96 (n)
(Rattus norvegicus)
Mammalia Blzf1 33
  • 83 (n)
(Monodelphis domestica)
Mammalia BLZF1 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia BLZF1 34
  • 71 (a)
(Gallus gallus)
Aves BLZF1 33 34
  • 72.28 (n)
(Anolis carolinensis)
Reptilia BLZF1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia blzf1 33
  • 67.8 (n)
Str.11265 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8306 33
(Danio rerio)
Actinopterygii blzf1 33 33 34
  • 59.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9356 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
Species where no ortholog for BLZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLZF1 Gene

Gene Tree for BLZF1 (if available)
Gene Tree for BLZF1 (if available)

Paralogs for BLZF1 Gene Pseudogenes for BLZF1 Gene

genes like me logo Genes that share paralogs with BLZF1: view

No data available for Paralogs for BLZF1 Gene

Variants for BLZF1 Gene

Sequence variations from dbSNP and Humsavar for BLZF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000034866 -- 169,369,264(+) A/G intron_variant
rs1000106571 -- 169,368,915(+) A/G intron_variant
rs1000185758 -- 169,375,478(+) C/T intron_variant
rs1000232080 -- 169,390,704(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000644112 -- 169,375,767(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BLZF1 Gene

Variant ID Type Subtype PubMed ID
esv22143 CNV gain+loss 19812545
esv3325022 CNV insertion 20981092
esv3374671 CNV insertion 20981092
esv3890760 CNV loss 25118596
nsv1010010 CNV gain 25217958
nsv1078878 OTHER inversion 25765185
nsv1144414 CNV deletion 24896259
nsv1145381 CNV deletion 24896259
nsv831871 CNV loss 17160897

Variation tolerance for BLZF1 Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.73; 83.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLZF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLZF1 Gene

Disorders for BLZF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BLZF1 Gene - From: Novoseek and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BLZF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BLZF1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BLZF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BLZF1 Gene

Publications for BLZF1 Gene

  1. A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic. (PMID: 11739401) Short B … Barr FA (The Journal of cell biology 2001) 3 4 22 58
  2. Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region. (PMID: 11056056) Tong JH … Lanotte M (Genomics 2000) 3 4 22 58
  3. JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia. (PMID: 9129147) Duprez E … Lanotte M (Oncogene 1997) 2 3 4 58
  4. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PMID: 21478859) Zhang Y … Cong F (Nature cell biology 2011) 3 4 58
  5. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 44 58

Products for BLZF1 Gene

Sources for BLZF1 Gene

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