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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 paraneoplastic cerebellar degeneration. Among its related pathways are Cell Cycle, Mitotic and Mitotic Prophase. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Chromosome:
1
Start:
169,367,956 bp from pter
End:
169,396,544 bp from pter
Size:
28,589 bases
Orientation:
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:
    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 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for BLZF1 Gene

Domains & Families for BLZF1 Gene

Protein Domains for BLZF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLZF1 Gene

GenScript: Design optimal peptide antigens:

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

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 transcription factor activity, sequence-specific DNA binding 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLZF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for BLZF1 Gene COMPARTMENTS Subcellular localization image for BLZF1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4

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 & 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: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

No data available for SIGNOR curated interactions for BLZF1 Gene

Drugs & Compounds for BLZF1 Gene

(40) Drugs for BLZF1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Iron Approved Pharma 957
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 453
Zinc Approved Pharma 1404

(51) Additional Compounds for BLZF1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-MERCAPTOETHANOL
Acetone
  • 2-Propanone
  • Acetone
  • b-Ketopropane
  • beta-Ketopropane
  • Dimethyl ketone
67-64-1
Actinomycin D
adenylate
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLZF1

Flow Cytometry 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
ECgene alternative splicing isoforms for
BLZF1

Expression for BLZF1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for BLZF1 Gene



SOURCE GeneReport for Unigene cluster for BLZF1 Gene Hs.130746

mRNA Expression by UniProt/SwissProt for BLZF1 Gene

Q9H2G9-GO45_HUMAN
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 expression patterns with BLZF1: view

Protein tissue co-expression partners for BLZF1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia BLZF1 35
  • 90.25 (n)
  • 89.5 (a)
BLZF1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLZF1 35
  • 90.67 (n)
  • 89.25 (a)
BLZF1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blzf1 35
  • 83.96 (n)
  • 83.96 (a)
Blzf1 16
Blzf1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BLZF1 35
  • 99.67 (n)
  • 99.25 (a)
BLZF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blzf1 35
  • 83 (n)
  • 82.83 (a)
oppossum
(Monodelphis domestica)
Mammalia BLZF1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLZF1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLZF1 35
  • 72.28 (n)
  • 72.19 (a)
BLZF1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLZF1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blzf1 35
  • 67.8 (n)
  • 70.16 (a)
Str.11265 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.8306 35
zebrafish
(Danio rerio)
Actinopterygii blzf1 35
blzf1 35
  • 59.23 (n)
  • 64.25 (a)
blzf1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9356 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
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

ENSEMBL:
Gene Tree for BLZF1 (if available)
TreeFam:
Gene Tree for BLZF1 (if available)

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 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/T)CTGTC intron-variant, utr-variant-3-prime
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, utr-variant-3-prime
rs1064277 -- 169,387,376(+) AGAAA(A/G)AAACT intron-variant, downstream-variant-500B, utr-variant-3-prime

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

Variation tolerance for BLZF1 Gene

Residual Variation Intolerance Score: 63.77% 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)

Relevant External Links for BLZF1 Gene

HapMap Linkage Disequilibrium report
BLZF1

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

Disorder Aliases PubMed IDs
lissencephaly, x-linked
  • subcortical laminal heteropia, x-linked
paraneoplastic cerebellar degeneration
paraneoplastic pemphigus
- elite association
Search BLZF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BLZF1

Genetic Association Database (GAD)
BLZF1
Human Genome Epidemiology (HuGE) Navigator
BLZF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLZF1
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. The role of protein O-linked beta-N-acetylglucosamine in mediating cardiac stress responses. (PMID: 19607882) Chatham J.C. … Marchase R.B. (Biochim. Biophys. Acta 2010) 23 67
  2. CD2AP is indispensable to multistep cytotoxic process by NK cells. (PMID: 19945749) Ma Y. … Gong F. (Mol. Immunol. 2010) 23 67
  3. Insufficient deactivation of the protein tyrosine kinase lck amplifies T-cell responsiveness in acute coronary syndrome. (PMID: 20035083) Pryshchep S. … Weyand C.M. (Circ. Res. 2010) 23 67
  4. [Effects of differentially expressed proteins in hepatocellular carcinoma cell treated by different telomerase inhibitors]. (PMID: 20459048) Wei X. … Zheng W. (Wei Sheng Yan Jiu 2010) 23 67
  5. A comprehensive analysis of filamentous phage display vectors for cytoplasmic proteins: an analysis with different fluorescent proteins. (PMID: 19955231) Velappan N. … Bradbury A.R. (Nucleic Acids Res. 2010) 23 67

Products for BLZF1 Gene

Sources for BLZF1 Gene

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