2. Gene
  3. BNC1 - basonuclin 1 Gene

BNC1 - basonuclin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：碱性核蛋白 1

种属: Homo sapiens

同用名: BNC; BSN1; POF16; HsT19447

基因 ID: 646 | 基因类型: protein coding

关于 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.

功能概要

该基因编码存在于表皮基底细胞层和毛囊中的锌指蛋白。它也大量存在于睾丸和卵巢的生殖细胞中。这种蛋白质被认为在角质形成细胞增殖中发挥调节作用，它也可能是 rRNA 转录的调节剂。该基因的破坏与卵巢早衰和睾丸过早老化有关。[RefSeq 提供，2020 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity IDA
IDA: 通过直接分析推断
11152639 GOA
enables rDNA binding IDA
IDA: 通过直接分析推断
10449744 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of oocyte maturation IMP
IMP: 通过突变表型推断
30010909 GOA
involved in positive regulation of transcription by RNA polymerase I IDA
IDA: 通过直接分析推断
11152639 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
30010909 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BNC1 蛋白结构

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.
蛋白主名 其他名称

zinc finger protein basonuclin-1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-111000 BNC-1 / 否
HY-RS01090 ASIC2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS01560 BNC1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18465 Bnc1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24946 Bnc1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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