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Aliases for BLZF1 Gene

Aliases for BLZF1 Gene

  • Basic Leucine Zipper Nuclear Factor 1 2 3 4
  • 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 lissencephaly, x-linked and alexander disease. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include sequence-specific 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

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

Genomics for BLZF1 Gene

Regulatory Elements for BLZF1 Gene

Genomic Location for BLZF1 Gene

169,367,956 bp from pter
169,396,544 bp from pter
28,589 bases
Plus strand

Genomic View for BLZF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for BLZF1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLZF1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for BLZF1 Gene

Domains for BLZF1 Gene

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



  • Q9H2G9
  • 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

No data available for Gene Families for BLZF1 Gene

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.

Gene Ontology (GO) - Molecular Function for BLZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9129147
GO:0003700 sequence-specific 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

Phenotypes for BLZF1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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

Jensen Localization Image for BLZF1 Gene COMPARTMENTS Subcellular localization image for BLZF1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

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 9129147
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 11056056
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with BLZF1: view

Pathways 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:0000278 mitotic cell cycle TAS --
GO:0001558 regulation of cell growth NAS 9129147
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9129147
GO:0007030 Golgi organization IDA 11739401
GO:0008283 cell proliferation TAS 9129147
genes like me logo Genes that share ontologies with BLZF1: view

Compounds for BLZF1 Gene

(1) HMDB Compounds for BLZF1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP

(90) Novoseek inferred chemical compound relationships for BLZF1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 53.8 50
phosphotyrosine 52.3 6
n-acetylglucosamine 48.5 13
threonine 42 17
serine 38.1 21
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:

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 for BLZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLZF1 Gene

SOURCE GeneReport for Unigene cluster for BLZF1 Gene Hs.130746

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.
genes like me logo Genes that share expressions with BLZF1: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.67 (n)
  • 99.25 (a)
BLZF1 36
  • 99 (a)
(Bos Taurus)
Mammalia BLZF1 35
  • 90.25 (n)
  • 89.5 (a)
BLZF1 36
  • 89 (a)
(Canis familiaris)
Mammalia BLZF1 35
  • 90.67 (n)
  • 89.25 (a)
BLZF1 36
  • 89 (a)
(Mus musculus)
Mammalia Blzf1 35
  • 83.96 (n)
  • 83.96 (a)
Blzf1 16
Blzf1 36
  • 81 (a)
(Monodelphis domestica)
Mammalia BLZF1 36
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia BLZF1 36
  • 71 (a)
(Rattus norvegicus)
Mammalia Blzf1 35
  • 83 (n)
  • 82.83 (a)
(Gallus gallus)
Aves BLZF1 35
  • 72.28 (n)
  • 72.19 (a)
BLZF1 36
  • 72 (a)
(Anolis carolinensis)
Reptilia BLZF1 36
  • 68 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8306 35
tropical clawed frog
(Silurana tropicalis)
Amphibia blzf1 35
  • 67.8 (n)
  • 70.16 (a)
Str.11265 35
(Danio rerio)
Actinopterygii blzf1 35
blzf1 35
  • 59.23 (n)
  • 64.25 (a)
blzf1 36
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9356 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
Species with no ortholog for BLZF1:
  • 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 Sequence Context AA Info Type MAF
rs15294 -- 169,388,040(+) TGCAA(A/C)CTGTC intron-variant
rs1028180 - 169,376,630(-) TAGAT(C/T)GGACT reference, missense
rs1064274 - 169,378,448(+) AGGTC(A/G)AAACA missense, reference
rs1064276 -- 169,387,372(+) GGAAA(A/G)AAAAA intron-variant, downstream-variant-500B
rs1064277 -- 169,387,376(+) AGAAA(A/G)AAACT intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv22143 CNV Gain+Loss 19812545
nsv872531 CNV Loss 21882294
nsv872532 CNV Loss 21882294
nsv831871 CNV Loss 17160897
esv270955 CNV Insertion 20981092
esv273425 CNV Insertion 20981092

Relevant External Links for BLZF1 Gene

HapMap Linkage Disequilibrium report

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

Disorders for BLZF1 Gene

(1) University of Copenhagen DISEASES for BLZF1 Gene

(65) Novoseek inferred disease relationships for BLZF1 Gene

Disease -log(P) Hits PubMed IDs
lissencephaly, x-linked 43.6 1
paraneoplastic cerebellar degeneration 42 1
pemphigus 28.2 1
tumors 25.5 11
neurodegenerative diseases 24.4 4

Relevant External Links for BLZF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BLZF1: view

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

Publications for BLZF1 Gene

  1. A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic. (PMID: 11739401) Short B. … Barr F.A. (J. Cell Biol. 2001) 3 4 23
  2. Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region. (PMID: 11056056) Tong J.-H. … Lanotte M. (Genomics 2000) 3 4 23
  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
  4. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PMID: 21478859) Zhang Y. … Cong F. (Nat. Cell Biol. 2011) 3 4
  5. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung C.L. … Kung A.W. (Hum. Mol. Genet. 2009) 3 48

Products for BLZF1 Gene

Sources for BLZF1 Gene

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