BPTF - bromodomain PHD finger transcription factor Gene

中文名称：溴结构域 PHD 指转录因子

种属: Homo sapiens

同用名: FAC1; FALZ; NEDDFL; NURF301

基因 ID: 2186 | 基因类型: protein coding

关于 BPTF

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:67,825,503-67,984,378 (from NCBI)

This gene has 18 transcripts (splice variants), 287 orthologues, 11 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 8.1) and 25 other tissues.

功能概要

该基因是通过其编码的蛋白质与针对阿尔茨海默氏病患者的脑匀浆制备的单克隆抗体的反应性来鉴定的。对原始蛋白质 (胎儿 Alz-50 反应性克隆 1，或 FAC1) 的分析表明，它被鉴定为含有 DNA 结合结构域和锌指基序的 810 aa 蛋白质，表明它可能在转录调控中发挥作用。在胎儿大脑和神经退行性疾病患者中检测到高水平的 FAC1。这个基因编码的蛋白质实际上比最初想象的要大得多，它还包含一个 C 端溴结构域，这是蛋白质在增殖过程中调节转录的特征。编码的蛋白质与果蝇 NURF (核小体重塑因子) 复合物的最大亚基高度相似。在果蝇中，催化核小体在 DNA 上滑动并与序列特异性转录因子相互作用的 NURF 复合物对于转录所需的染色质重塑是必需的。已完整描述了编码不同亚型的两种替代转录物。[RefSeq 提供，2008 年 7 月]

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

BPTF 基因产物(2)

mRNA	Protein	Name
NM_004459.7	NP_004450.3	nucleosome-remodeling factor subunit BPTF isoform 2
NM_182641.4	NP_872579.2	nucleosome-remodeling factor subunit BPTF isoform 1

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
contributes to ATP-dependent activity, acting on DNA	IDA IDA: 通过直接分析推断	14609955	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	14609955	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	10403843	GOA
enables sequence-specific DNA binding	IMP IMP: 通过突变表型推断	10575013	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in brain development	IMP IMP: 通过突变表型推断	14609955	GOA
involved in chromatin remodeling	IDA IDA: 通过直接分析推断	14609955	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	10727212	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	14609955	GOA
involved in regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	14609955	GOA
involved in regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	10575013	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of ATPase complex	IDA IDA: 通过直接分析推断	14609955	GOA
part of NURF complex	IDA IDA: 通过直接分析推断	20850016	GOA
part of NURF complex	IPI IPI: 通过物理相互作用推断	14609955	GOA
located in chromatin	IDA IDA: 通过直接分析推断	27141965	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10403843	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

BPTF 蛋白结构

DDT

WHIM1

PHD

Bromodomain

0
500
1000
1500
2000
2500
3046 a.a.

蛋白主名

其他名称

nucleosome-remodeling factor subunit BPTF

bromodomain and PHD domain transcription factor

BPTF 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	BPTF	Q12830	SMARCA1	Homo sapiens	P28370	Anti Tag CoIP	14609955
种属内	BPTF	Q12830	H4C16	Homo sapiens	P62805	X-Ray Diffraction	21596426
种属内	BPTF	Q12830	SMARCA5	Homo sapiens	O60264	Anti Bait CoIP	22729083

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies

NEDDFL

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

17q24.2 Microdeletion Syndrome

Del(17)(Q24)

Lacrimal Gland Carcinoma

Lacrimal Gland Cancer	Carcinoma Of The Lacrimal Gland
Malignant Neoplasm Of Lacrimal Gland	Malignant Tumour Of Lacrimal Gland
Neoplasm Of Lacrimal Gland	Tumor Of The Lacrimal Gland
Malignant Tumor Of Lacrimal Gland

Lacrimal Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Lacrimal Gland

Lacrimal Gland Adenocarcinoma

Adenocarcinoma Of Lacrimal Gland

Lacrimal System Cancer

Neoplasm Of Lacrimal System	Lacrimal System Neoplasm
Tumor Of The Lacrimal System

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-132889	BPTF-IN-BZ1	Inhibitor	98.31%	否
HY-141703A	DC-BPi-11 hydrochloride	Inhibitor	≥97.0%	否
HY-114205A	TP-238 hydrochloride	Inhibitor	≥99.0%	否
HY-112398	GSK1379725A		98.12%	否
HY-150211	DC-BPi-03	Inhibitor	99.77%	否
HY-114205	TP-238	Inhibitor	/	否
HY-126299	NVS-BPTF-1	Inhibitor	/	否
HY-141703	DC-BPi-11	Inhibitor	/	否
HY-145431	(S)-GSK1379725A	Inhibitor	/	否
HY-RS01586	BPTF Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	BPTF	MGD	MGI:2444008
Bos taurus	BPTF	VGNC	VGNC:26550
Rattus norvegicus	BPTF	RGD	RGD:1307039
Macaca mulatta	BPTF	VGNC	VGNC:70464
Felis catus	BPTF	VGNC	VGNC:60161
Canis familiaris	BPTF	VGNC	VGNC:38513
Others	BPTF	NCBI

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