BNC1 - basonuclin 1 Gene

Also Known as BNC; BSN1; POF16; HsT19447

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 646

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
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity IDA
IDA: Inferred from direct assay
11152639 GOA
enables rDNA binding IDA
IDA: Inferred from direct assay
10449744 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of oocyte maturation IMP
IMP: Inferred from mutant phenotype
30010909 GOA
involved in positive regulation of transcription by RNA polymerase I IDA
IDA: Inferred from direct assay
11152639 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
30010909 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BNC1 Protein Structure

zf-met

zf-met: Zinc-finger of C2H2 type (358 - 377)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (720 - 743)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (748 - 768)

zf-met

zf-met: Zinc-finger of C2H2 type (929 - 948)

  • 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

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
Others BNC1 NCBI