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
  • Golgin-45 3 4
  • JEM-1 3 4
  • JEM1 3 4
  • Leucine Zipper Nuclear Factor 3
  • 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
  • GC01P169337
  • 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 Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J169362 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -1.8 -1849 7.4 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A MYC POLR2G SP1 NCOR1 GTF2E2 NME7 BLZF1 CCDC181 C1orf112 METTL18 piR-43676-003
GH01J169889 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +524.4 524377 5.7 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G NCOR1 PHF8 JUND SCYL3 METTL18 C1orf112 KIFAP3 RN7SL333P BLZF1 GORAB piR-36573-005
GH01J169161 Enhancer 0.7 Ensembl 10.8 -206.5 -206455 1.4 RAD21 ESRRA RELA SMC3 FOS FOSL2 NBN NR2C1 NR2F1 HOMEZ NME7 BLZF1 ATP1B1 ENSG00000237707 piR-34911-002 lnc-NME7-2
GH01J169089 Enhancer 0.7 Ensembl dbSUPER 10.3 -277.4 -277355 0.4 MCM3 SPI1 BATF IRF4 IKZF1 JUNB ZNF217 NFIC IKZF2 MLLT1 SCYL3 C1orf112 RN7SL333P METTL18 BLZF1 SELP LINC00970 ENSG00000285622
GH01J169162 Enhancer 0.6 Ensembl 10.8 -204.7 -204655 0.6 EP300 FOSL2 BATF IRF4 JUND MEIS2 JUNB ATF7 CREM FOS NME7 BLZF1 ATP1B1 ENSG00000237707 piR-34911-002 lnc-NME7-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BLZF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BLZF1

Top Transcription factor binding sites by QIAGEN in the BLZF1 gene promoter:
  • ATF6
  • Bach1
  • Egr-2
  • LUN-1
  • p53
  • Sox9
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for BLZF1 Gene

Genomic Locations for BLZF1 Gene
chr1:169,367,956-169,396,544
(GRCh38/hg38)
Size:
28,589 bases
Orientation:
Plus strand
chr1:169,337,194-169,365,782
(GRCh37/hg19)
Size:
28,589 bases
Orientation:
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:
    Q9H2G9-GO45_HUMAN
    Recommended name:
    Golgin-45
    Protein Accession:
    Q9H2G9
    Secondary Accessions:
    • O15298
    • Q5T531
    • Q5T533
    • Q9GZX4

    Protein attributes for BLZF1 Gene

    Size:
    400 amino acids
    Molecular mass:
    44910 Da
    Quaternary structure:
    • Interacts with GORASP2. Interacts with the GTP-bound form of RAB2, but not with other Golgi Rab proteins (PubMed:11739401). Identified in a complex with RAB2 and GORASP2 (PubMed:11739401).

    Alternative splice isoforms for BLZF1 Gene

    UniProtKB/Swiss-Prot:

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLZF1 Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLZF1 Gene

GenScript: Design optimal peptide antigens:
  • p45 basic leucine-zipper nuclear factor (GO45_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2G9

UniProtKB/Swiss-Prot:

GO45_HUMAN :
  • The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.
Domain:
  • 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

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.
GENATLAS Biochemistry:
basic leucine zipper nuclear factor,45kDa,upregulated during retinoid-induced maturation of NB4-promyelocytic leukemia cells

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 24722188
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

Animal Model Products

CRISPR Products

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 membrane.
[Isoform 1]: Nucleus. Note=Detected in the nucleus upon heterologous expression. Not detected in the cytoplasm. {ECO:0000269 PubMed:11056056, ECO:0000269 PubMed:9129147}.
[Isoform 2]: Cytoplasm. Note=Not detected in the nucleus. {ECO:0000269 PubMed:11056056}.

Subcellular locations from

COMPARTMENTS
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 4
cytosol 3
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 11056056
GO:0005794 Golgi apparatus IEA,IDA --
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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007030 Golgi organization IEA,IDA 11739401
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
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

(42) 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

mRNA/cDNA for BLZF1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
BLZF1

Expression for BLZF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for BLZF1 Gene



Protein tissue co-expression partners for BLZF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BLZF1

SOURCE GeneReport for Unigene cluster for BLZF1 Gene:

Hs.130746

mRNA Expression by UniProt/SwissProt for BLZF1 Gene:

Q9H2G9-GO45_HUMAN
Tissue specificity: Detected in adrenal gland (PubMed:9129147).

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
chimpanzee
(Pan troglodytes)
Mammalia BLZF1 31 30
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BLZF1 31 30
  • 90.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BLZF1 31 30
  • 90.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Blzf1 17 31 30
  • 83.96 (n)
rat
(Rattus norvegicus)
Mammalia Blzf1 30
  • 83 (n)
oppossum
(Monodelphis domestica)
Mammalia BLZF1 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLZF1 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLZF1 31 30
  • 72.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLZF1 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blzf1 30
  • 67.8 (n)
Str.11265 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8306 30
zebrafish
(Danio rerio)
Actinopterygii blzf1 31 30 30
  • 59.23 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9356 31
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToOne
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

ENSEMBL:
Gene Tree for BLZF1 (if available)
TreeFam:
Gene Tree for BLZF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLZF1: view image

Paralogs for BLZF1 Gene

Pseudogenes.org 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BLZF1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
789949 Likely Benign: not provided 169,376,813(+) C/A MISSENSE_VARIANT
rs1028180 - p.Gln40Arg
rs1064274 - p.Arg196Gln

Additional dbSNP identifiers (rs#s) for BLZF1 Gene

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
BLZF1

SNP Genotyping and Copy Number Assay Products

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

Disorders for BLZF1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BLZF1 Gene - From: DISEASES, 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  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 54
  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 54
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41 54

Products for BLZF1 Gene

Sources for BLZF1 Gene