PHF8 - PHD finger protein 8 Gene

中文名称：PHD 指蛋白 8

种属: Homo sapiens

同用名: KDM7B; JHDM1F; MRXSSD; ZNF422

基因 ID: 23133 | 基因类型: protein coding

关于 PHF8

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,936,680-54,048,936 (from NCBI)

This gene has 22 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 19.3), ovary (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种组蛋白赖氨酸脱甲基酶，它优先作用于单甲基或二甲基状态的组蛋白。编码的蛋白质需要 Fe (2+) 离子、2-酮戊二酸和氧来发挥其催化活性。该蛋白质具有一个 N 末端 PHD 指和一个中央 Jumonji C 结构域。该基因被认为起到转录激活因子的作用。该基因的缺陷是 X 连锁综合征性智力障碍 (MRXSSD) 的一个原因，该基因的过度表达与多种癌症有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of Cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

PHF8 基因产物(4)

mRNA	Protein	Name
NM_001184896.1	NP_001171825.1	histone lysine demethylase PHF8 isoform 1
NM_001184897.2	NP_001171826.1	histone lysine demethylase PHF8 isoform 3
NM_001184898.2	NP_001171827.1	histone lysine demethylase PHF8 isoform 4
NM_015107.3	NP_055922.1	histone lysine demethylase PHF8 isoform 2

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 2-oxoglutarate-dependent dioxygenase activity	IDA IDA: 通过直接分析推断	20023638	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	20622854	GOA
enables histone H3K27me2/H3K27me3 demethylase activity	IDA IDA: 通过直接分析推断	20622853	GOA
enables histone H3K36 demethylase activity	IDA IDA: 通过直接分析推断	20208542	GOA
enables histone H3K9 demethylase activity	IDA IDA: 通过直接分析推断	20023638	GOA
enables histone H4K20 demethylase activity	IDA IDA: 通过直接分析推断	20622853	GOA
enables histone demethylase activity	IDA IDA: 通过直接分析推断	19843542	GOA
enables iron ion binding	IDA IDA: 通过直接分析推断	20023638	GOA
enables methylated histone binding	IDA IDA: 通过直接分析推断	20023638	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20208542	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	20023638	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in G1/S transition of mitotic cell cycle	IMP IMP: 通过突变表型推断	20622854	GOA
involved in negative regulation of rDNA heterochromatin formation	IDA IDA: 通过直接分析推断	20208542	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	20622853	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	20346720	GOA
involved in positive regulation of transcription by RNA polymerase I	IDA IDA: 通过直接分析推断	20208542	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	31691806	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleolus	IDA IDA: 通过直接分析推断	20208542	GOA
located in nucleus	IDA IDA: 通过直接分析推断	19843542	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

PHF8 蛋白结构

PHD

JmjC

0
200
400
600
800
1000
1060 a.a.

蛋白主名

其他名称

histone lysine demethylase PHF8

[histone H3]-dimethyl-L-lysine(36) demethylase PHF8

PHF8 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	PHF8	Q9UPP1	ARX	Homo sapiens	Q96QS3	Anti Bait CoIP	34356104
种属内	PHF8	Q9UPP1	ARX	Homo sapiens	Q96QS3	Anti Tag CoIP	34356104
种属内	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Bait CoIP	20346720
种属内	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Tag CoIP	20346720
种属内	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Y2H	20346720
种属内	PHF8	Q9UPP1	ZNF711	Homo sapiens	Q9Y462	Anti Tag CoIP	34356104
种属内	PHF8	Q9UPP1	RBPJ	Homo sapiens	Q06330	Anti Tag CoIP	23022380

种属间: 跨种属相互作用 种属内: 同种属相互作用

PHF8 抗体

目录号	产品名	应用	反应物种
HY-P82579	PHF8 Antibody (YA2324)	WB, ICC/IF, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type

MRXSSD	Siderius-Hamel Syndrome
X-Linked Intellectual Disability, Siderius Type	Intellectual Deficit X-Linked Siderius Type
Mental Retardation, X-Linked, Syndromic, Siderius Type	Intellectual Developmental Disorder, X-Linked Syndromic, Siderius Type
Siderius Hamel Syndrome	X-Linked Intellectual Disability Hamel Type
Syndromic X-Linked Mental Retardation, Siderius Type	X-Linked Mental Retardation Hamel Type
Siderius X-Linked Mental Retardation Syndrome

Syndromic X-Linked Intellectual Disability Siderius Type

Mrxssd	Siderius-Hamel Syndrome
Siderius X-Linked Mental Retardation Syndrome

Cleft Lip

Cheiloschisis	Labium Leporinum
Cleft Lip, Unilateral, Complete	Complete Unilateral Cleft Lip
Hare Lip	Congenital Fissure Of Lip
Isolated Cleft Lip	Cleft Lip Without Cleft Palate
Cleft Lip Without Cleft Palate, Unilateral	Isolated Cleft Lip, Unilateral
Cleft Lip Without Cleft Palate, Bilateral	Isolated Cleft Lip, Bilateral

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type	Stocco Dos Santos Syndrome
Sdsx	Stocco Dos Santos X-Linked Mental Retardation Syndrome

Borjeson-Forssman-Lehmann Syndrome

BFLS	Borj
Borjeson Syndrome	Mrxsbfl
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome	Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Mental Retardation, Epilepsy, And Endocrine Disorders
Mental Retardation, Epilepsy, And Endocrine Disorder	Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
Mental Deficiency, Epilepsy And Endocrine Disorders	Boerjeson-Forssman-Lehmann Syndrome
Borjeson-Forssman Syndrome	Mental Deficiency-Epilepsy- Endocrine Disorders

Van Der Woude Syndrome

Lip-Pit Syndrome	Vws
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip	Vdws
Lps	Lip Pit Syndrome
Cleft Lip/Palate With Mucous Cysts Of Lower Lip	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Autism

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

Syndromic Intellectual Disability

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-13643	Daminozide	Inhibitor	99.79%	否
HY-153608	JHDM-IN-1	Inhibitor	97.60%	否
HY-RS10431	PHF8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	PHF8	VGNC	VGNC:64147
Bos taurus	PHF8	VGNC	VGNC:32828
Mus musculus	PHF8	MGD	MGI:2444341
Macaca mulatta	PHF8	VGNC	VGNC:75836
Canis familiaris	PHF8	VGNC	VGNC:44494
Rattus norvegicus	PHF8	RGD	RGD:1561065
Others	PHF8	NCBI

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