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

Gene ID: 9689, updated on 5-Jan-2020

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
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
BZAP45; Nbla10236
Expression
Ubiquitous expression in testis (RPKM 73.8), adrenal (RPKM 67.5) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See BZW1 in Genome Data Viewer
Location:
2q33.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (200811546..200827338)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201676262..201688569)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene AOX3P-AOX2P readthrough, transcribed pseudogene 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 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. Translational autoregulation of BZW1 and BZW2 expression by modulating the stringency of start codon selection. Loughran G, et al. PLoS One, 2018. PMID 29470543, Free PMC Article
  3. Purification and functional analysis of a novel leucine-zipper/nucleotide-fold protein, BZAP45, stimulating cell cycle regulated histone H4 gene transcription. Mitra P, et al. Biochemistry, 2001 Sep 4. PMID 11524015
  4. A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Machado RD, et al. Genomics, 2000 Sep 1. PMID 10964520
  5. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. Ali G, et al. Hum Hered, 2011. PMID 21734401, Free PMC Article

See all (43) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. BZW1 is a novel factor, promoting the growth of MEC cells
    Title: BZW1, a novel proliferation regulator that promotes growth of salivary muocepodermoid carcinoma.
  4. Stimulates cell cycle regulation of histone H4 gene transcription.
    Title: Purification and functional analysis of a novel leucine-zipper/nucleotide-fold protein, BZAP45, stimulating cell cycle regulated histone H4 gene transcription.
Submit: New GeneRIF Correction

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)

Genotypes

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
RNA binding HDA PubMed 
cadherin binding HDA PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
membrane HDA PubMed 

General protein information

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Preferred Names
basic leucine zipper and W2 domain-containing protein 1
Names
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  basic leucine zipper and W2 domain-containing protein 1 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
    Q7L1Q6
    UniProtKB/TrEMBL
    A0A024R3Z6, Q3LIC9
    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  basic leucine zipper and W2 domain-containing protein 1 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/Swiss-Prot
    Q7L1Q6
    UniProtKB/TrEMBL
    Q3LIC9
    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_001207069.1 → NP_001193998.1  basic leucine zipper and W2 domain-containing protein 1 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)
    AK301511, CB055242
    Consensus CDS
    CCDS56154.1
    UniProtKB/Swiss-Prot
    Q7L1Q6
    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  basic leucine zipper and W2 domain-containing protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005037, AC007163, BM969732, D13630
    Consensus CDS
    CCDS56156.1
    UniProtKB/Swiss-Prot
    Q7L1Q6
    UniProtKB/TrEMBL
    A0A024R3Z6
    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  basic leucine zipper and W2 domain-containing protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC007163, BM969732, D13630
    Consensus CDS
    CCDS56156.1
    UniProtKB/Swiss-Prot
    Q7L1Q6
    UniProtKB/TrEMBL
    A0A024R3Z6
    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  basic leucine zipper and W2 domain-containing protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005037, AC007163, BM969732, D13630
    UniProtKB/Swiss-Prot
    Q7L1Q6
    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  basic leucine zipper and W2 domain-containing protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC005037, AC007163, BM969732, D13630
    UniProtKB/Swiss-Prot
    Q7L1Q6
    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  basic leucine zipper and W2 domain-containing protein 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC005037, AC007163, AK096489, BM969732, D13630
    UniProtKB/Swiss-Prot
    Q7L1Q6
    UniProtKB/TrEMBL
    B3KU41
    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_014670.3 → NP_055485.2  basic leucine zipper and W2 domain-containing protein 1 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, BC001804, DC386317, DC409063
    UniProtKB/Swiss-Prot
    Q7L1Q6
    Conserved Domains (1) summary
    cl17013
    Location:217 → 340
    W2; C-terminal domain of eIF4-gamma/eIF5/eIF2b-epsilon

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    200811546..200827338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005393.1 → XP_016860882.1  basic leucine zipper and W2 domain-containing protein 1 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L1Q6.1 GenPept UniProtKB/Swiss-Prot:Q7L1Q6

Gene LinkOut

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