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BNC1 basonuclin 1 [ Homo sapiens (human) ]

Gene ID: 646, updated on 11-Jun-2021

Summary

Official Symbol
BNC1provided by HGNC
Official Full Name
basonuclin 1provided by HGNC
Primary source
HGNC:HGNC:1081
See related
Ensembl:ENSG00000169594 MIM:601930
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; 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
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Genomic context

See BNC1 in Genome Data Viewer
Location:
15q25.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (83255884..83284664, complement)
105.20201022 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 microRNA 4515 Neighboring gene transmembrane 6 superfamily member 1 Neighboring gene HDGF like 3 Neighboring gene uncharacterized LOC105370932 Neighboring gene uncharacterized LOC105370933 Neighboring gene uncharacterized LOC105370934

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein 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_001301206.2NP_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/Swiss-Prot
    Q01954
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    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

    Conserved Domains (2) summary
    sd00017
    Location:241262
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:812833
    ZF_C2H2; C2H2 Zn finger [structural motif]
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