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

    Gene ID: 646, updated on 28-Oct-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    Preferred Names
    zinc finger protein basonuclin-1
    Names
    basonuclin 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301206.2NP_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:352373
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:923944
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001717.4NP_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:359380
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:930951
      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_011521893.2XP_011520195.1  zinc finger protein basonuclin-1 isoform X1

      UniProtKB/TrEMBL
      B7Z885
      Conserved Domains (2) summary
      sd00017
      Location:334355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:905926
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. XM_011521894.1XP_011520196.1  zinc finger protein basonuclin-1 isoform X2

      UniProtKB/TrEMBL
      B7Z885
      Conserved Domains (2) summary
      sd00017
      Location:241262
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:812833
      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_054378620.1XP_054234595.1  zinc finger protein basonuclin-1 isoform X1

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