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FLASH GENE

Symbol

BNC1

contributors: mct - updated : 07-04-2021

HGNC name	basonuclin 1
HGNC id	1081

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	POF16 premature ovarian failure 16
Location	15q25.2      Physical location : 83.924.654 - 83.953.468
Synonym name	zinc finger protein basonuclin
Synonym symbol(s)	BSNC, BASO, BNC, BSN1, HsT19447, POF16

DNA

TYPE	functioning gene
STRUCTURE	28.78 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001717 5 - 4627 NP_001708 - 994 - 2006 16891417 NM_001301206 5 - 4767 NP_001288135 - 987 - 2006 16891417

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Homo sapiens Skin/Tegument skin         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis stratum basale   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Homo sapiens Reproductive spermatid Homo sapiens Reproductive spermatocyte Homo sapiens Reproductive spermatogonia Homo sapiens Skin/Tegument keratinocyte Homo sapiens

cell lineage	germinal cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	several binding sites (UBTF and others)
	three separated pairs of zinc fingers
	a nuclear localization signal

HOMOLOGY

intraspecies

paralog to BNC2

Homologene

FAMILY

CATEGORY

transcription factor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus
text	midpiece of the flagellum during late spermiogenesis in spermatids
	shuttle between the nucleus and the cytoplasm, and location correlated with the proliferative potential of the cell

basic FUNCTION	playing a regulatory role in keratinocyte proliferation and may be also a regulator for rRNA transcription
	transcription factor that has an unusual ability to interact with promoters of both RNA polymerases I and II
	like MYC, may coordinate transcriptional activities among the three RNA polymerases, but regulates a distinctive set of pathways, which differ from that regulated by MYC
	may be having a function related to the potential for cell proliferation
	cell-type-specific ribosomal RNA (rRNA) gene regulator
	is required for the maintenance of spermatogenesis
	regulates epithelial plasticity of mammary epithelial cells and influences outcome of TGFB1 signaling
	BNC1 might directly cooperate with TAF7L to regulate spermatogenesis
	BNC1 is a transcription factor that is crucial for spermatogenesis and male fertility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of basonuclin-Pol I complex that transcribes a subset of rDNA

INTERACTION

DNA

RNA

small molecule

protein	HSF2BP is a testis-specific binding protein of HSF2, and is a binding partner of BNC1
	expression of BNC1 modulates TGFB1-induced epithelial dedifferentiation of mammary epithelial cells
	BNC1 role in spermatogenesis by directly binding to BNC1 binding elements in the promoter regions of both YBX2 and PAPOLB and inducing transcription of these important spermatogenesis genes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

POF16

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by hypermethylation in renal cell carcinoma tumoral     --low   by hypermethylation in renal cell carcinoma tumoral     --low   of BNC1 and BNC2 is associated with genetic or epigenetic regulation in hepatocellular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	methylation status of ADAMTS1 and BNC1 in cfDNA shows promise for detecting pancreatic cancer during the early stages when curative resection of the tumor is still possible
Therapy target

ANIMAL & CELL MODELS

	Bnc1-null male mice were sub-fertile, losing germ cells progressively with age
	male mice carrying the truncation mutation exhibited progressively fertility loss and testicular premature aging