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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLZF1 Gene

protein-coding   GIFtS: 61
GCID: GC01P169337

Basic Leucine Zipper Nuclear Factor 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Basic Leucine Zipper Nuclear Factor 11 2 3     Golgin-452
JEM-12 3     JEM-1s2
JEM12 3     Cytoplasmic Protein2
P45 Basic Leucine-Zipper Nuclear Factor2 3     JEM-1short Protein2
GOLGIN-452     

External Ids:    HGNC: 10651   Entrez Gene: 85482   Ensembl: ENSG000001174757   OMIM: 6086925   UniProtKB: Q9H2G93   

Export aliases for BLZF1 gene to outside databases

Previous GC identifers: GC01P166966 GC01P164988 GC01P166033 GC01P166524 GC01P166068 GC01P167603 GC01P140560


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 spinocerebellar ataxia type 6, and among its related super-pathways are Mitotic M-M/G1 phases 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: GO45_HUMAN, Q9H2G9
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BLZF1 gene promoter:
         Bach1   STAT1   p53   STAT1beta   LUN-1   STAT1alpha   Egr-2   Sox9   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLZF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BLZF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLZF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24

BLZF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLZF1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P169337:  view genomic region     (about GC identifiers)

Start:
169,337,194 bp from pter      End:
169,365,782 bp from pter
Size:
28,589 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GO45_HUMAN, Q9H2G9 (See protein sequence)
Recommended Name: Golgin-45  
Size: 400 amino acids; 44910 Da
Subunit: 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
Subcellular location: Golgi apparatus lumen
Subcellular location: Isoform 1: Nucleus
Subcellular location: Isoform 2: Cytoplasm
Caution: Because of the presence of a potential basic motif and leucine-zipper domain, PubMed:9129147 and
PubMed:11056056 have thought that BLZF1 is a potential transcription factor. They found it localized in the
nucleus, except isoform 2, which was cytoplasmic. However, homology at several typical position for basic or
hydrophobic residues is missing
Secondary accessions: O15298 Q5T531 Q5T533 Q9GZX4
Alternative splicing: 2 isoforms:  Q9H2G9-1   Q9H2G9-2   

Explore the universe of human proteins at neXtProt for BLZF1: NX_Q9H2G9

Explore proteomics data for BLZF1 at MOPED 

Post-translational modifications:

  • UniProtKB: ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by
    ubiquitination
  • UniProtKB: Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H2G9

  • BLZF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BLZF1 Protein Expression
    REFSEQ proteins: NP_003657.1  
    ENSEMBL proteins: 
     ENSP00000356781   ENSP00000356782   ENSP00000327541   ENSP00000414668   ENSP00000404408  
    Reactome Protein details: Q9H2G9
    Human Recombinant Protein Products for BLZF1: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus NAS9129147
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm NAS11056056
    GO:0005794Golgi apparatus ----

    BLZF1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR027095 Golgin-45
     IPR013183 Hsk3_like

    Graphical View of Domain Structure for InterPro Entry Q9H2G9

    ProtoNet protein and cluster: Q9H2G9

    UniProtKB/Swiss-Prot: GO45_HUMAN, Q9H2G9
    Domain: The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2


    BLZF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GO45_HUMAN, Q9H2G9
    Function: Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER)
    through the Golgi apparatus to the cell surface
    Induction: Up-regulated by retinoids

         Genatlas biochemistry entry for BLZF1:
    basic leucine zipper nuclear factor,45kDa,upregulated during retinoid-induced maturation of NB4-promyelocytic
    leukemia cells

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9129147
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9129147
    GO:0005515protein binding ----
    GO:0019899enzyme binding IPI--
    GO:0031625ubiquitin protein ligase binding IPI--
         
    BLZF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BLZF1:
     Synthetic lethal with c-Myc af 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blzf1):
     limbs/digits/tail  skeleton 

    BLZF1 for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BLZF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Mitotic Prophase0.70
    4Golgi Cisternae Pericentriolar Stack Reorganization
    Golgi Cisternae Pericentriolar Stack Reorganization

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/6        Reactome Pathways for BLZF1 (see all 6)
        Golgi Cisternae Pericentriolar Stack Reorganization
    Mitotic Prophase
    Cell Cycle
    M Phase
    Mitotic M-M/G1 phases



    BLZF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLZF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for BLZF1 (Q9H2G93 ENSP000003275414) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GORASP2Q9H8Y83, ENSP000002341604I2D: score=2 STRING: ENSP00000234160
    RAB2AP610193, ENSP000002626464I2D: score=1 STRING: ENSP00000262646
    ORC2Q134163, ENSP000002342964I2D: score=1 STRING: ENSP00000234296
    EWSR1Q018443, ENSP000003810314I2D: score=1 STRING: ENSP00000381031
    HCLS1P143173, ENSP000003201764I2D: score=1 STRING: ENSP00000320176
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0001558regulation of cell growth NAS9129147
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9129147
    GO:0007030Golgi organization IDA11739401
    GO:0008283cell proliferation TAS9129147

    BLZF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BLZF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BLZF1 (GO45)

    1 HMDB Compound for BLZF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    10/90 Novoseek inferred chemical compound relationships for BLZF1 gene (see all 90)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 53.8 53 11215526 (7), 11341776 (2), 1825054 (1), 17964991 (1) (see all 43)
    phosphotyrosine 52.3 6 17964991 (1), 7515480 (1), 17439981 (1), 7531695 (1) (see all 6)
    n-acetylglucosamine 48.5 13 9452489 (2), 17909453 (1), 8639509 (1), 8742080 (1) (see all 12)
    threonine 42 17 19028792 (1), 19607882 (1), 20409980 (1), 17507370 (1) (see all 17)
    serine 38.1 21 11341776 (1), 19028792 (1), 19607882 (1), 20409980 (1) (see all 21)
    lumazine 33.6 3 11874879 (1), 10482294 (1)
    cycloheximide 29.8 6 9093376 (1), 1731978 (1), 2339053 (1), 8158254 (1) (see all 6)
    phosphatidylinositol 22.9 4 15187135 (1), 8382465 (1), 8822210 (1), 12837292 (1)
    mg 132 20.5 1 11172811 (1)
    retinoic acid 18 13 11215526 (2), 7488392 (1), 7716736 (1), 11580199 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about BLZF1 / GO45

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BLZF1 gene: 
    NM_003666.2  

    Unigene Cluster for BLZF1:

    Basic leucine zipper nuclear factor 1
    Hs.130746  [show with all ESTs]
    Unigene Representative Sequence: U79751
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367807(uc001gfw.3) ENST00000367808(uc001gfx.2) ENST00000329281(uc009wvp.1 uc001gfy.3)
    ENST00000420531 ENST00000426663
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF288161.1 AK223533.1 AK291725.1 AK307151.1 BC020716.1 U79751.1 

    14 DOTS entries:

    DT.453121  DT.100820040  DT.100820048  DT.97820048  DT.65288030  DT.97809884  DT.100720242  DT.121401583 
    DT.97770498  DT.100765610  DT.86849733  DT.105627  DT.121401667  DT.121401732 

    24/199 AceView cDNA sequences (see all 199):

    CR599652 AA827766 BF513944 BX401251 AI651073 AI887216 F10495 D62974 
    AI969649 BM463135 CR622252 BX328880 CR591083 BC020716 CB160151 BI764470 
    BQ582226 CA413059 AA577225 AL599568 AW964494 CA430914 AA909642 BM692501 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BLZF1    About this scheme

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


    ECgene alternative splicing isoforms for BLZF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BLZF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAGTTTTAT
    BLZF1 Expression
    About this image


    See BLZF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLZF1

    SOURCE GeneReport for Unigene cluster: Hs.130746

    UniProtKB/Swiss-Prot: GO45_HUMAN, Q9H2G9
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BLZF1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blzf11 , 5 basic leucine zipper nuclear factor 11, 5 83.75(n)1
    83.67(a)1
      1 (71.60 cM)5
    663521  NM_001160208.11  NP_001153680.11 
     1642898005 
    chicken
    (Gallus gallus)
    Aves BLZF11 basic leucine zipper nuclear factor 1 72.28(n)
    72.19(a)
      418371  XM_416590.3  XP_416590.1 
    lizard
    (Anolis carolinensis)
    Reptilia BLZF16
    Uncharacterized protein
    67(a)
    1 ↔ 1
    3(175648907-175663334)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83062 Xenopus laevis transcribed sequence with weak similarity more 74.53(n)    CA987396.1 
    zebrafish
    (Danio rerio)
    Actinopterygii blzf12 Danio rerio cDNA clone MGC66280 IMAGE5411912, complete more 71.8(n)    BC055578.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93566
    --
    22(a)
    1 ↔ 1
    3R(5228286-5229991)
    worm
    (Caenorhabditis elegans)
    Secernentea R12B2.26
    Protein R12B2.2
    24(a)
    1 ↔ 1
    III(5807052-5809207)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BLZF1 gene

    BLZF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BLZF1
    PGOHUM00000247841


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/470 SNPs in BLZF1 are shown (see all 470)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120248971,2
    C,F,A,H--169339268(+) AGGCTG/ATGCTC 1 -- int127Minor allele frequency- A:0.38NS EA NA WA CSA 2769
    rs1873391641,2
    --169339278(+) CCTTCG/TGAAGG 1 -- int10--------
    rs754875431,2
    C,F--169339382(+) TTCACA/GTGGCA 1 -- int12Minor allele frequency- G:0.07NA EA 240
    rs799470561,2
    C,F--169339471(+) GTCTAC/TTCCTG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1135007031,2
    C--169339486(+) ATTTCA/GTCTTA 1 -- int10--------
    rs730368561,2
    C,F--169339516(+) ATCCTG/ATTTCC 1 -- int12Minor allele frequency- A:0.11WA 120
    rs75394151,2
    C,F,A,H--169339612(+) aaataC/Tagtag 1 -- int114Minor allele frequency- T:0.36NS EA NA WA CSA 791
    rs1164606511,2
    --169339622(+) GTCACC/TTTTTA 1 -- int10--------
    rs1922848871,2
    --169339647(+) GTCCTC/TTCTAA 1 -- int10--------
    rs1445196721,2
    C--169339670(+) TTGACC/TATTCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for BLZF1 (169337194 - 169365782 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BLZF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv270955CNV Insertion20981092
    esv273425CNV Insertion20981092
    nsv872532CNV Loss21882294
    nsv831871CNV Loss17160897
    nsv872531CNV Loss21882294
    esv22143CNV Gain+Loss19812545

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608692    OMIM disorders: --

    20/93 diseases for BLZF1 (see all 93):    About MalaCards
    lissencephaly x-linked    spinocerebellar ataxia type 6    paraneoplastic cerebellar degeneration    alexander disease
    brucellosis    cerebellar degeneration    female breast carcinoma    lissencephaly
    peutz-jeghers syndrome    myofibrillar myopathy    cryptococcosis    congenital myasthenic syndrome
    paraneoplastic pemphigus    primary immunodeficiency disease    vesiculitis    machado-joseph disease
    wiskott-aldrich syndrome    filariasis    hemangioblastoma    muscular atrophy

    1 disease from the University of Copenhagen DISEASES database for BLZF1:
    Lyme disease

    BLZF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/65 Novoseek inferred disease relationships for BLZF1 gene (see all 65)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lissencephaly, x-linked 43.6 1 12223548 (1)
    paraneoplastic cerebellar degeneration 42 1 11771954 (1)
    pemphigus 28.2 1 10863179 (1)
    tumors 25.5 11 9795272 (1), 16425368 (1), 15994306 (1), 12414522 (1) (see all 11)
    neurodegenerative diseases 24.4 4 17894839 (1), 15694337 (1), 15240551 (1), 18414043 (1)
    neurodegeneration 22.8 2 19738442 (1), 20153326 (1)
    leukemia t-cell 21.7 2 7615529 (1), 18599479 (1)
    brucellosis 20.5 4 11303810 (2), 8852961 (1), 10482294 (1)
    shock 19.9 16 8655591 (1), 10865880 (1), 17663445 (1), 8886893 (1) (see all 15)
    cancer 13 5 19204029 (1), 20003713 (1), 18550844 (1), 16503970 (1) (see all 5)

    Genetic Association Database (GAD): BLZF1
    Human Genome Epidemiology (HuGE) Navigator: BLZF1 (2 documents)

    Export disorders for BLZF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BLZF1 gene, integrated from 9 sources (see all 496):
    (articles sorted by number of sources associating them with BLZF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia. (PubMed id 9129147)1, 2, 3 Duprez E....Lanotte M. (1997)
    2. Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region. (PubMed id 11056056)1, 2, 9 Tong J.-H.... Lanotte M. (2000)
    3. A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic. (PubMed id 11739401)1, 2, 9 Short B....Barr F.A. (2001)
    4. RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling. (PubMed id 21478859)1, 2 Zhang Y.... Cong F. (2011)
    5. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (2009)
    6. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (2009)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8548 HGNC: 1065 AceView: BLZF1 Ensembl:ENSG00000117475 euGenes: HUgn8548
    ECgene: BLZF1 H-InvDB: BLZF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BLZF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLZF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BLZF1 gene:
    Search GeneIP for patents involving BLZF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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