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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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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

BNC1__4457 (e-PCR)
- UniSTS:463562

D15S670 (e-PCR)
- UniSTS:41688

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)

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]
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

83255884..83284664 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]