BNC1 - basonuclin 1 Gene

Homo sapiens

Also known as BNC; BSN1; POF16; HsT19447

Gene ID: 646 | Gene type: protein coding

About BNC1

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,255,884-83,284,664 (from NCBI)

This gene has 2 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in testis (RPKM 16.5), esophagus (RPKM 5.8) and 2 other tissues.

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]

BNC1 Products(2)

mRNA	Protein	Name
NM_001301206.2	NP_001288135.1	zinc finger protein basonuclin-1 isoform b
NM_001717.4	NP_001708.3	zinc finger protein basonuclin-1 isoform a

BNC1 Protein Structure

zf-met

zf-C2H2_4

zf-met

0
200
400
600
800
994 a.a.

Protein Preferred Names

Protein Names

zinc finger protein basonuclin-1

Related Diseases

Diseases

Alias

Premature Ovarian Failure 16

POF16

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development	46,Xx Gonadal Dysgenesis
SRXX1	46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
46,Xx Testicular Dsd	Xx Male Syndrome
46,Xx Complete Gonadal Dysgenesis	46,Xx Pure Gonadal Dysgenesis
Follicular Stimulating Hormone-Resistant Ovaries	Hypergonadotropic Ovarian Dysgenesis
Ovotesticular Disorder Of Sex Development	46,Xx Sex Reversal, Sry-Positive
Xx Male, Sry-Positive	46xx Sex Reversal 1
46, Xx Gonadal Sex Reversal	Xx Sex Reversal
46,Xx Ovarian Dysgenesis	Fsh-Ro
Xx Female Gonadal Dysgenesis	Xx-Gd
46,Xx Ovotesticular Disorder Of Sex Development	46,Xx Ovotesticular Dsd
De La Chapelle Syndrome	Xx, Male Syndrome
46,Xx Gonadal Dysgenesis Complete Sry-Positive	46,Xx Sex Reversal Sry-Positive
46,Xx True Hermaphroditism Sry-Positive	Ovotesticular Dsd
Xx Male Sry-Positive	Ovotesticular Disorders Of Sex Development
46, Xx Testicular Disorders Of Sex Development	Resistant Ovary Syndrome
Dysgenetic Ovaries	Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
True Hermaphroditism	Ovotestis
True Hermaphrodite

Premature Aging

Syndrome With Premature-Aging

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Basal Cell Carcinoma

Basal Cell Cancer	Basal Cell Neoplasm
Basal Cell Carcinoma Of Skin	Malignant Basal Cell Tumor
Basal Cell Tumor	Epithelioma Basal Cell
Malignant Basal Cell Neoplasm	Rodent Ulcer
Carcinoma Basal Cell	Neoplasms, Basal Cell
Basal Cell Carcinomas	Experimental Organism Basal Cell Carcinoma
Nodulo-Ulcerative Basal Cell Carcinoma	Basalioma
Basal Cell Epithelioma Of Skin	Bcc - [Basal Cell Carcinoma] Of Skin
Rodent Ulcer Of Skin	Rodent Ulcer Of Unspecified Site
Basal Cell Epithelioma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01560	BNC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BNC1	VGNC	VGNC:26530
Canis familiaris	BNC1	VGNC	VGNC:38490
Mus musculus	BNC1	MGD	MGI:1097164
Felis catus	BNC1	VGNC	VGNC:60141
Macaca mulatta	BNC1	VGNC	VGNC:70270
Rattus norvegicus	BNC1	RGD	RGD:1309042

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