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    BZW1 basic leucine zipper and W2 domains 1 [ Homo sapiens (human) ]

    Gene ID: 9689, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BZW1provided by HGNC
    Official Full Name
    basic leucine zipper and W2 domains 1provided by HGNC
    Primary source
    HGNC:HGNC:18380
    See related
    Ensembl:ENSG00000082153 MIM:619252; AllianceGenome:HGNC:18380
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    5MP2; BZAP45; Nbla10236
    Summary
    Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 73.8), adrenal (RPKM 67.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BZW1 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200811589..200827338)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201295023..201310790)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201676312..201692061)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene AOX3P-AOX2P readthrough, transcribed pseudogene Neighboring gene aldehyde oxidase 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16961 Neighboring gene long intergenic non-protein coding RNA 1792 Neighboring gene aldehyde oxidase 2, pseudogene Neighboring gene RNA, U1 small nuclear 133, pseudogene Neighboring gene AOX3P-AOX2P intron CAGE-defined mid-level expression enhancer Neighboring gene BZW1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201676955-201677470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201677471-201677986 Neighboring gene RNA, U6 small nuclear 31, pseudogene Neighboring gene BICD cargo adaptor 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. BZW1, a novel proliferation regulator that promotes growth of salivary muocepodermoid carcinoma. Li S, et al. Cancer Lett, 2009 Oct 18. PMID 19446954
    2. Overexpression of BZW1 is an independent poor prognosis marker and its down-regulation suppresses lung adenocarcinoma metastasis. Chiou J, et al. Sci Rep, 2019 Oct 10. PMID 31601833, Free PMC Article
    3. BZW1 promotes cell proliferation in prostate cancer by regulating TGF-β1/Smad pathway. Shi Z, et al. Cell Cycle, 2021 May. PMID 33886419, Free PMC Article
    4. BZW1 Facilitates Glycolysis and Promotes Tumor Growth in Pancreatic Ductal Adenocarcinoma Through Potentiating eIF2α Phosphorylation. Li Z, et al. Gastroenterology, 2022 Apr. PMID 34951995, Free PMC Article
    5. BZW1 is a prognostic and immunological biomarker in pancreatic adenocarcinoma. Luo A, et al. Medicine (Baltimore), 2024 Feb 2. PMID 38306570, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Overexpression of BZW1 promotes invasion and metastasis of gastric cancer cells by regulating Wnt/beta-catenin signaling and promoting epithelial-mesenchymal transition].
      Title: [Overexpression of BZW1 promotes invasion and metastasis of gastric cancer cells by regulating Wnt/β-catenin signaling and promoting epithelial-mesenchymal transition].
    2. BZW1 is a prognostic and immunological biomarker in pancreatic adenocarcinoma.
      Title: BZW1 is a prognostic and immunological biomarker in pancreatic adenocarcinoma.
    3. Activation of BZW1 by CEBPB in macrophages promotes eIF2alpha phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice.
      Title: Activation of BZW1 by CEBPB in macrophages promotes eIF2α phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice.
    4. BZW1 Facilitates Glycolysis and Promotes Tumor Growth in Pancreatic Ductal Adenocarcinoma Through Potentiating eIF2alpha Phosphorylation.
      Title: BZW1 Facilitates Glycolysis and Promotes Tumor Growth in Pancreatic Ductal Adenocarcinoma Through Potentiating eIF2α Phosphorylation.
    5. BZW1 promotes cell proliferation in prostate cancer by regulating TGF-beta1/Smad pathway.
      Title: BZW1 promotes cell proliferation in prostate cancer by regulating TGF-β1/Smad pathway.
    6. LncRNA NEAT1 promotes glioma cancer progression via regulation of miR-98-5p/BZW1.
      Title: LncRNA NEAT1 promotes glioma cancer progression via regulation of miR-98-5p/BZW1.
    7. Long noncoding RNA NEAT1 modifies cell proliferation, colony formation, apoptosis, migration and invasion via the miR4500/BZW1 axis in ovarian cancer.
      Title: Long non‑coding RNA NEAT1 modifies cell proliferation, colony formation, apoptosis, migration and invasion via the miR‑4500/BZW1 axis in ovarian cancer.
    8. Overexpression of BZW1 is an independent poor prognosis marker and its down-regulation suppresses lung adenocarcinoma metastasis.
      Title: Overexpression of BZW1 is an independent poor prognosis marker and its down-regulation suppresses lung adenocarcinoma metastasis.
    9. results reveal a surprising role for BZW1 and BZW2 in maintaining homeostatic stringency of start codon selection, and taking into account recent biochemical, genetic and structural insights into eukaryotic initiation, suggest a model for BZW1 and BZW2 function
      Title: Translational autoregulation of BZW1 and BZW2 expression by modulating the stringency of start codon selection.
    10. Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
      Title: Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0005

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    eIF5-mimic protein 2
    Names
    basic leucine zipper and W2 domain-containing protein 1
    basic leucine-zipper protein BZAP45
    putative protein product of Nbla10236

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001207067.2 → NP_001193996.1  eIF5-mimic protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001193996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      AB074176, AC005037, AC007163, AL833518
      Consensus CDS
      CCDS56156.1
      UniProtKB/Swiss-Prot
      B4DLZ8, B4DWF7, Q14281, Q15394, Q7L1Q6, Q9BUY0
      UniProtKB/TrEMBL
      Q53FN7
      Related
      ENSP00000386474.1, ENST00000409600.6
      Conserved Domains (1) summary
      cd11560
      Location:217 → 406
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    2. NM_001207068.3 → NP_001193997.1  eIF5-mimic protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001193997.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate 5' terminal exon, compared to variant 1. It encodes isoform 2, which is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB074176, AC005037, AC007163, AK297227, BM969732
      Consensus CDS
      CCDS56155.1
      UniProtKB/TrEMBL
      Q53FN7
      Related
      ENSP00000394316.2, ENST00000452790.6
      Conserved Domains (1) summary
      cd11560
      Location:249 → 438
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    3. NM_001207069.2 → NP_001193998.1  eIF5-mimic protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001193998.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon, compared to variant 1. It encodes isoform 3, which is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC005037, AC007163, AK301511, CB055242
      Consensus CDS
      CCDS56154.1
      UniProtKB/TrEMBL
      Q53FN7
      Related
      ENSP00000386837.1, ENST00000409226.5
      Conserved Domains (1) summary
      cd11560
      Location:221 → 410
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    4. NM_001321688.2 → NP_001308617.1  eIF5-mimic protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007163, BM969732, D13630
      Consensus CDS
      CCDS56156.1
      UniProtKB/Swiss-Prot
      B4DLZ8, B4DWF7, Q14281, Q15394, Q7L1Q6, Q9BUY0
      UniProtKB/TrEMBL
      Q53FN7
      Conserved Domains (1) summary
      cd11560
      Location:217 → 406
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    5. NM_001321690.1 → NP_001308619.1  eIF5-mimic protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007163, BM969732, D13630
      Consensus CDS
      CCDS56156.1
      UniProtKB/Swiss-Prot
      B4DLZ8, B4DWF7, Q14281, Q15394, Q7L1Q6, Q9BUY0
      UniProtKB/TrEMBL
      Q53FN7
      Conserved Domains (1) summary
      cd11560
      Location:217 → 406
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    6. NM_001321691.2 → NP_001308620.1  eIF5-mimic protein 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007163, BM969732, D13630
      UniProtKB/TrEMBL
      Q53FN7
      Conserved Domains (1) summary
      cl17013
      Location:217 → 372
      W2; C-terminal domain of eIF4-gamma/eIF5/eIF2b-epsilon

    7. NM_001321693.2 → NP_001308622.1  eIF5-mimic protein 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007163, BM969732, D13630
      UniProtKB/TrEMBL
      Q53FN7
      Conserved Domains (1) summary
      cd11560
      Location:158 → 347
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    8. NM_001321694.2 → NP_001308623.1  eIF5-mimic protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC005037, AC007163, AK096489, BM969732, D13630
      Conserved Domains (1) summary
      cd11560
      Location:133 → 322
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    9. NM_014670.4 → NP_055485.2  eIF5-mimic protein 2 isoform 4

      See identical proteins and their annotated locations for NP_055485.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AA868237, AC005037, AC007163, BC001804, DC386317
      UniProtKB/TrEMBL
      Q53FN7
      Conserved Domains (1) summary
      cl17013
      Location:217 → 340
      W2; C-terminal domain of eIF4-gamma/eIF5/eIF2b-epsilon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      200811589..200827338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005393.2 → XP_016860882.1  eIF5-mimic protein 2 isoform X1

      Conserved Domains (1) summary
      cd11560
      Location:133 → 322
      W2_eIF5C_like; C-terminal W2 domain of the eukaryotic translation initiation factor 5C and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      201295023..201310790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344721.1 → XP_054200696.1  eIF5-mimic protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L1Q6.1 GenPept UniProtKB/Swiss-Prot:Q7L1Q6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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