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    BNC1 basonuclin zinc finger protein 1 [ Homo sapiens (human) ]

    Gene ID: 646, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BNC1provided by HGNC
    Official Full Name
    basonuclin zinc finger protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1081
    See related
    Ensembl:ENSG00000169594 MIM:601930; AllianceGenome:HGNC:1081
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BNC; bn1; BSN1; POF16; HsT19447
    Summary
    This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]
    Expression
    Biased expression in testis (RPKM 16.5), esophagus (RPKM 5.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BNC1 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83255884..83284664, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (81123798..81152590, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83924636..83953416, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903588 Neighboring gene uncharacterized LOC124903543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6761 Neighboring gene transmembrane 6 superfamily member 1 Neighboring gene HDGF like 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:83826782-83827981 Neighboring gene NANOG hESC enhancer GRCh37_chr15:83835576-83836077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:83876873-83877486 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:83889876-83891075 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:83893658-83894857 Neighboring gene MPRA-validated peak2407 silencer Neighboring gene uncharacterized LOC105370932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:83952807-83953307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:83954077-83954577 Neighboring gene NANOG hESC enhancer GRCh37_chr15:83979362-83979907 Neighboring gene uncharacterized LOC105370933 Neighboring gene uncharacterized LOC105370934

    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. Clinicopathological significance and underlying molecular mechanism of downregulation of basonuclin 1 expression in ovarian carcinoma. Liang ZQ, et al. Exp Biol Med (Maywood), 2022 Jan. PMID 34644201, Free PMC Article
    2. Basonuclin: a keratinocyte protein with multiple paired zinc fingers. Tseng H, et al. Proc Natl Acad Sci U S A, 1992 Nov 1. PMID 1332044, Free PMC Article
    3. Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation. Tseng H, et al. J Cell Biol, 1994 Jul. PMID 8034748, Free PMC Article
    4. The human basonuclin gene. Teumer J, et al. Gene, 1997 Mar 25. PMID 9099851
    5. An unexpected localization of basonuclin in the centrosome, mitochondria, and acrosome of developing spermatids. Yang Z, et al. J Cell Biol, 1997 May 5. PMID 9151672, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BNC1 deficiency-triggered ferroptosis through the NF2-YAP pathway induces primary ovarian insufficiency.
      Title: BNC1 deficiency-triggered ferroptosis through the NF2-YAP pathway induces primary ovarian insufficiency.
    2. Clinicopathological significance and underlying molecular mechanism of downregulation of basonuclin 1 expression in ovarian carcinoma.
      Title: Clinicopathological significance and underlying molecular mechanism of downregulation of basonuclin 1 expression in ovarian carcinoma.
    3. Upregulation of Basonuclin1 Is Associated with p63-Involved Epithelial Barrier Impairment and Type-2 Helper T-cell Inflammation in Chronic Rhinosinusitis with Nasal Polyps.
      Title: Upregulation of Basonuclin1 Is Associated with p63-Involved Epithelial Barrier Impairment and Type-2 Helper T-cell Inflammation in Chronic Rhinosinusitis with Nasal Polyps.
    4. Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis.
      Title: Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis.
    5. Cell heterogeneity is conserved in human epicardium, regulated by BNC1 and associated with cell fate and function.
      Title: BNC1 regulates cell heterogeneity in human pluripotent stem cell-derived epicardium.
    6. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility, significantly increased serum follicle-stimulating hormone, decreased ovary size and reduced follicle numbers, consistent with primary ovarian insufficiency (POI). Haploinsufficiency of BNC1 as an etiology of human autosomal dominant POI was reported.
      Title: Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
    7. Study shows that BNC1 expression was down-regulated in hepatocellular tumors and cell lines through its promotor hypermethylation.
      Title: Decreased Expression of BNC1 and BNC2 Is Associated with Genetic or Epigenetic Regulation in Hepatocellular Carcinoma.
    8. Study demonstrates that Bnc1 regulates epithelial plasticity of mammary epithelial cells and influences outcome of TGF-beta1 signaling.
      Title: Basonuclin-1 modulates epithelial plasticity and TGF-β1-induced loss of epithelial cell integrity.
    9. p63 induces the expression of the basal epithelial transcription factor, Basonuclin 1.
      Title: p63 Transcriptionally regulates BNC1, a Pol I and Pol II transcription factor that regulates ribosomal biogenesis and epithelial differentiation.
    10. Data show that basonuclin (Bn)2 but not bn1 colocalizes with SC35 in nuclear speckles, and may have a function in nuclear processing of mRNA.
      Title: Basonuclins 1 and 2, whose genes share a common origin, are proteins with widely different properties and functions.
    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

    Associated conditions

    Description Tests
    Premature ovarian failure 16
    MedGen: C5231474 OMIM: 618723 GeneReviews: Not available
    		not available

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables rDNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of oocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein basonuclin-1
    Names
    basonuclin 1

    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_001301206.2 → NP_001288135.1  zinc finger protein basonuclin-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC103876, AI921950, AK302992, DB051299, HY045483, L03427
      Consensus CDS
      CCDS73771.1
      UniProtKB/TrEMBL
      B7Z885, F5GY04
      Related
      ENSP00000456727.1, ENST00000569704.2
      Conserved Domains (2) summary
      sd00017
      Location:352 → 373
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:923 → 944
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001717.4 → NP_001708.3  zinc finger protein basonuclin-1 isoform a

      See identical proteins and their annotated locations for NP_001708.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC103876, AI921950, CN260997, L03427
      Consensus CDS
      CCDS10324.1
      UniProtKB/Swiss-Prot
      Q01954, Q15840
      UniProtKB/TrEMBL
      B7Z885
      Related
      ENSP00000307041.2, ENST00000345382.7
      Conserved Domains (2) summary
      sd00017
      Location:359 → 380
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:930 → 951
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      83255884..83284664 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521893.2 → XP_011520195.1  zinc finger protein basonuclin-1 isoform X1

      UniProtKB/TrEMBL
      B7Z885
      Conserved Domains (2) summary
      sd00017
      Location:334 → 355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:905 → 926
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_011521894.1 → XP_011520196.1  zinc finger protein basonuclin-1 isoform X2

      UniProtKB/TrEMBL
      B7Z885
      Conserved Domains (2) summary
      sd00017
      Location:241 → 262
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:812 → 833
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      81123798..81152590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378620.1 → XP_054234595.1  zinc finger protein basonuclin-1 isoform X1

      UniProtKB/TrEMBL
      B7Z885

    2. XM_054378621.1 → XP_054234596.1  zinc finger protein basonuclin-1 isoform X2

      UniProtKB/TrEMBL
      B7Z885
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01954.2 GenPept UniProtKB/Swiss-Prot:Q01954

    Gene LinkOut

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

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