The protein encoded by this gene is 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. Alternative splicing of this gene results in m... See more...

Aliases for BNC1 Gene

Aliases for BNC1 Gene

  • Basonuclin 1 2 3 5
  • Zinc Finger Protein Basonuclin-1 3 4
  • BNC 3 4
  • Basonuclin 2
  • HsT19447 3
  • BSN1 3

External Ids for BNC1 Gene

Previous HGNC Symbols for BNC1 Gene

  • BNC

Previous GeneCards Identifiers for BNC1 Gene

  • GC15M081645
  • GC15M081715
  • GC15M083924
  • GC15M060188

Summaries for BNC1 Gene

Entrez Gene Summary for BNC1 Gene

  • The protein encoded by this gene is 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. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]

GeneCards Summary for BNC1 Gene

BNC1 (Basonuclin 1) is a Protein Coding gene. Diseases associated with BNC1 include Premature Ovarian Failure 16 and Citrullinemia, Classic. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is BNC2.

UniProtKB/Swiss-Prot Summary for BNC1 Gene

  • Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity).

Gene Wiki entry for BNC1 Gene

Additional gene information for BNC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BNC1 Gene

Genomics for BNC1 Gene

GeneHancer (GH) Regulatory Elements for BNC1 Gene

Promoters and enhancers for BNC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BNC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BNC1

Top Transcription factor binding sites by QIAGEN in the BNC1 gene promoter:
  • AP-2gamma
  • ATF-2
  • c-Rel
  • CRE-BP1
  • CREB
  • CUTL1
  • E47
  • NF-1
  • p53
  • Pbx1a

Genomic Locations for BNC1 Gene

Genomic Locations for BNC1 Gene
chr15:83,255,884-83,284,716
(GRCh38/hg38)
Size:
28,833 bases
Orientation:
Minus strand
chr15:83,924,655-83,953,468
(GRCh37/hg19)
Size:
28,814 bases
Orientation:
Minus strand

Genomic View for BNC1 Gene

Genes around BNC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BNC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BNC1 Gene

Proteins for BNC1 Gene

  • Protein details for BNC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01954-BNC1_HUMAN
    Recommended name:
    Zinc finger protein basonuclin-1
    Protein Accession:
    Q01954
    Secondary Accessions:
    • Q15840

    Protein attributes for BNC1 Gene

    Size:
    994 amino acids
    Molecular mass:
    110972 Da
    Quaternary structure:
    • Interacts with HSF2BP (via C-terminus).

neXtProt entry for BNC1 Gene

Post-translational modifications for BNC1 Gene

  • Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BNC1 Gene

No data available for DME Specific Peptides for BNC1 Gene

Domains & Families for BNC1 Gene

Gene Families for BNC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BNC1 Gene

Suggested Antigen Peptide Sequences for BNC1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein basonuclin-1 (BNC1_HUMAN)
genes like me logo Genes that share domains with BNC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BNC1 Gene

Function for BNC1 Gene

Molecular function for BNC1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity).

Phenotypes From GWAS Catalog for BNC1 Gene

Gene Ontology (GO) - Molecular Function for BNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 9099851
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BNC1: view
genes like me logo Genes that share phenotypes with BNC1: view

Animal Models for BNC1 Gene

MGI Knock Outs for BNC1:
  • Bnc1 Bnc1<tm1.1Tsen>

Animal Model Products

CRISPR Products

miRNA for BNC1 Gene

miRTarBase miRNAs that target BNC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BNC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BNC1 Gene

Localization for BNC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BNC1 Gene

Nucleus. Cytoplasm. Nucleus, nucleoplasm. Note=Relocates to the midpiece of the flagellum during late spermiogenesis in spermatids. {ECO:0000250 UniProtKB:O35914}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BNC1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8034748
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with BNC1: view

Pathways & Interactions for BNC1 Gene

PathCards logo

SuperPathways for BNC1 Gene

No Data Available

Interacting Proteins for BNC1 Gene

;

SIGNOR curated interactions for BNC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007283 spermatogenesis IEA --
GO:0008284 positive regulation of cell proliferation TAS 8034748
GO:0008544 epidermis development TAS 1332044
genes like me logo Genes that share ontologies with BNC1: view

No data available for Pathways by source for BNC1 Gene

Drugs & Compounds for BNC1 Gene

(2) Drugs for BNC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BNC1: view

Transcripts for BNC1 Gene

mRNA/cDNA for BNC1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BNC1

Alternative Splicing Database (ASD) splice patterns (SP) for BNC1 Gene

No ASD Table

Relevant External Links for BNC1 Gene

GeneLoc Exon Structure for
BNC1

Expression for BNC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BNC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BNC1 Gene

This gene is overexpressed in Testis (x8.2), Esophagus - Mucosa (x8.1), Adipose - Visceral (Omentum) (x7.1), Skin - Not Sun Exposed (Suprapubic) (x5.3), and Skin - Sun Exposed (Lower leg) (x4.5).

Protein differential expression in normal tissues from HIPED for BNC1 Gene

This gene is overexpressed in Plasma (59.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BNC1 Gene



Protein tissue co-expression partners for BNC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BNC1

SOURCE GeneReport for Unigene cluster for BNC1 Gene:

Hs.459153

mRNA Expression by UniProt/SwissProt for BNC1 Gene:

Q01954-BNC1_HUMAN
Tissue specificity: In epidermis, primarily detected in cells of the basal or immediately suprabasal layers (at protein level) (PubMed:16891417). In hair follicles, mainly expressed in the outer root sheath (at protein level) (PubMed:8034748). Expressed in epidermis, testis and foreskin, and to a lower extent in thymus, spleen, mammary glands, placenta, brain and heart (PubMed:9687312).

Evidence on tissue expression from TISSUES for BNC1 Gene

  • Skin(4.4)
genes like me logo Genes that share expression patterns with BNC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BNC1 Gene

Orthologs for BNC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BNC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BNC1 31 30
  • 99.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bnc1 17 31 30
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Bnc1 30
  • 86.63 (n)
dog
(Canis familiaris)
Mammalia BNC1 31 30
  • 85.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BNC1 31 30
  • 82.8 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BNC1 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BNC1 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves BNC1 31 30
  • 70.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BNC1 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bnc1 30
  • 62.94 (n)
Str.12416 30
zebrafish
(Danio rerio)
Actinopterygii LOC568786 30
  • 63.57 (n)
BNC1 31
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta disco 31
  • 21 (a)
ManyToMany
disco-r 31
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F55C5.11 31
  • 31 (a)
OneToMany
Species where no ortholog for BNC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BNC1 Gene

ENSEMBL:
Gene Tree for BNC1 (if available)
TreeFam:
Gene Tree for BNC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BNC1: view image

Paralogs for BNC1 Gene

Paralogs for BNC1 Gene

(2) SIMAP similar genes for BNC1 Gene using alignment to 2 proteins:

  • BNC1_HUMAN
  • F5GY04_HUMAN
genes like me logo Genes that share paralogs with BNC1: view

Variants for BNC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BNC1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
732673 Benign: not provided 83,264,675(-) G/A SYNONYMOUS_VARIANT
770625 Benign: not provided 83,258,068(-) T/C MISSENSE_VARIANT
800707 Pathogenic: PREMATURE OVARIAN FAILURE 16 83,264,181(-) ACCCGG/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for BNC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BNC1 Gene

Variant ID Type Subtype PubMed ID
dgv1257n106 CNV deletion 24896259
nsv1120052 OTHER inversion 24896259
nsv474536 CNV novel sequence insertion 20440878

Variation tolerance for BNC1 Gene

Residual Variation Intolerance Score: 5.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BNC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BNC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BNC1 Gene

Disorders for BNC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BNC1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 16
  • pof16
citrullinemia, classic
  • citrullinemia, type i; ctln1
- elite association - COSMIC cancer census association via MalaCards
Search BNC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BNC1

genes like me logo Genes that share disorders with BNC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BNC1 Gene

Publications for BNC1 Gene

  1. Basonuclin: a keratinocyte protein with multiple paired zinc fingers. (PMID: 1332044) Tseng H … Green H (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 23 54
  2. Basonuclins 1 and 2, whose genes share a common origin, are proteins with widely different properties and functions. (PMID: 16891417) Vanhoutteghem A … Djian P (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23 54
  3. Translocation of the zinc finger protein basonuclin from the mouse germ cell nucleus to the midpiece of the spermatozoon during spermiogenesis. (PMID: 9687312) Mahoney MG … Tseng H (Biology of reproduction 1998) 3 4 23 54
  4. Nuclear localization of basonuclin in human keratinocytes and the role of phosphorylation. (PMID: 9223293) Iuchi S … Green H (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 23 54
  5. The human basonuclin gene. (PMID: 9099851) Teumer J … Green H (Gene 1997) 3 4 23 54

Products for BNC1 Gene

Sources for BNC1 Gene