BRPF1 - bromodomain and PHD finger containing 1 Gene

中文名称：含溴结构域和 PHD 指 1

种属: Homo sapiens

同用名: BR140; IDDDFP

基因 ID: 7862 | 基因类型: protein coding

关于 BRPF1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,731,735-9,748,015 (from NCBI)

This gene has 23 transcripts (splice variants), 211 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 8.9) and 25 other tissues.

功能概要

该基因编码含溴结构域、PHD 指和染色体/Tudor 相关 Pro-Trp-Trp-Pro (PWWP) 结构域的蛋白质。编码的蛋白质是 MOZ/MORF 组蛋白乙酰转移酶复合物的一个组成部分，它起着转录调节剂的作用。该蛋白与 MOZ 和 MORF 蛋白的催化 MYST 结构域结合，可能在刺激乙酰转移酶和复合物的转录活性方面发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 1 月]

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF Histone Acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

BRPF1 基因产物(17)

mRNA	Protein	Name
XM_005265449.2	XP_005265506.1	peregrin isoform X2
XM_047448881.1	XP_047304837.1	peregrin isoform X8
XM_047448879.1	XP_047304835.1	peregrin isoform X7
NM_001319050.2	NP_001305979.1	peregrin isoform 4
XM_047448876.1	XP_047304832.1	peregrin isoform X3
NM_001410704.1	NP_001397633.1	peregrin isoform 5
XM_011534101.2	XP_011532403.1	peregrin isoform X1
XM_047448882.1	XP_047304838.1	peregrin isoform X8
XM_047448877.1	XP_047304833.1	peregrin isoform X5
NM_004634.3	NP_004625.2	peregrin isoform 2
XM_047448875.1	XP_047304831.1	peregrin isoform X1
NM_001319049.2	NP_001305978.1	peregrin isoform 3
XM_005265450.2	XP_005265507.1	peregrin isoform X4
XM_047448880.1	XP_047304836.1	peregrin isoform X7
NR_160918.1
XM_047448878.1	XP_047304834.1	peregrin isoform X6
NM_001003694.2	NP_001003694.1	peregrin 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
enables acetyltransferase activator activity	IDA IDA: 通过直接分析推断	27939640	GOA
contributes to histone H4K12 acetyltransferase activity	IDA IDA: 通过直接分析推断	16387653	GOA
contributes to histone H4K5 acetyltransferase activity	IDA IDA: 通过直接分析推断	16387653	GOA
contributes to histone H4K8 acetyltransferase activity	IDA IDA: 通过直接分析推断	16387653	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25281266	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin remodeling	IMP IMP: 通过突变表型推断	27939640	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	18794358	GOA
involved in regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	18794358	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of MOZ/MORF histone acetyltransferase complex	IDA IDA: 通过直接分析推断	16387653	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	27939640	GOA
part of histone acetyltransferase complex	IDA IDA: 通过直接分析推断	24065767	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18794358	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

BRPF1 蛋白结构

EPL1

PHD_2

zf-HC5HC2H_2

Bromodomain

PWWP

0
200
400
600
800
1000
1214 a.a.

蛋白主名

其他名称

peregrin

bromodomain-containing protein, 140kD

BRPF1 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	BRPF1	P55201	H2AC11	Homo sapiens	P0C0S8	ITC	25281266
种属内	BRPF1	P55201	H2AC11	Homo sapiens	P0C0S8	X-Ray Diffraction	25281266
种属内	BRPF1	P55201	H4C16	Homo sapiens	P62805	X-Ray Diffraction	25281266
种属内	BRPF1	P55201	H4C16	Homo sapiens	P62805	ITC	25281266

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

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Cerebellar Angioblastoma

Hemangioblastoma Of Cerebellum

Cerebellar Hemangioblastoma

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Syndromic Intellectual Disability

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Monocular Esotropia

Esotropia

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 23

MRD23	Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Mental Retardation, Autosomal Dominant 23	Autosomal Dominant Non-Syndromic Intellectual Disability 23
Autosomal Dominant Intellectual Developmental Disorder 23	Autosomal Dominant Mental Retardation 23
Mental Retardation, Autosomal Dominant, Type 23

Ophthalmomyiasis

Ocular Myiasis	Ophthalmic Myiasis
Myiasis Oestruosa

Adult Medulloblastoma

Adult Brain Medulloblastoma

Medulloblastoma, Adult

Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis

IDDDFP

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Blepharophimosis Mental Retardation Syndromes
Sbbys Syndrome	Say Barber Biesecker Young-Simpson Syndrome
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Bmrs, Ohdo Type
Blepharophimosis Syndrome, Ohdo Type	Ohdo-Madokoro-Sonoda Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis - Intellectual Disability Syndrome

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-107424	BAY-299	Inhibitor	99.40%	否
HY-100729	GSK9311	Inhibitor	99.52%	否
HY-130622	LT052	Inhibitor	98.77%	否
HY-101121	NI-42	Inhibitor	99.53%	否
HY-100729A	GSK9311 hydrochloride	Inhibitor	/	否
HY-143332	TRIM24/BRPF1-IN-2	Inhibitor	/	否
HY-151366	HDAC8/BRPF1-IN-1	Inhibitor	/	否
HY-149806	Bromodomain IN-2	Inhibitor	/	否
HY-122626	BRPF1B/TRIM24-IN-1	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	BRPF1	VGNC	VGNC:38533
Rattus norvegicus	BRPF1	RGD	RGD:1584828
Felis catus	BRPF1	VGNC	VGNC:60181
Mus musculus	BRPF1	MGD	MGI:1926033
Macaca mulatta	BRPF1	VGNC	VGNC:70308
Bos taurus	BRPF1	VGNC	VGNC:26572
Others	BRPF1	NCBI

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