CTDP1 - CTD phosphatase subunit 1 Gene

中文名称：CTD 磷酸酶亚基 1

种属: Homo sapiens

同用名: FCP1; CCFDN

基因 ID: 9150 | 基因类型: protein coding

关于 CTDP1

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:79,676,768-79,756,625 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 206 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.7), colon (RPKM 6.0) and 25 other tissues.

功能概要

该基因编码一种蛋白质，该蛋白质与转录起始因子 TFIIF 的 RAP74 亚基的羧基末端相互作用，并作为磷酸酶发挥作用，使 POLR2A (RNA 聚合酶 II 的一个亚基) 的 C 末端持续去磷酸化，使其可用于起始的基因表达。该基因的突变与先天性白内障、面部畸形和神经病综合征 (CCFDN) 有关。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a Phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

CTDP1 基因产物(4)

mRNA	Protein	Name
NM_001202504.1	NP_001189433.1	RNA polymerase II subunit A C-terminal domain phosphatase isoform 3
NM_001318511.2	NP_001305440.1	RNA polymerase II subunit A C-terminal domain phosphatase isoform 4
NM_004715.5	NP_004706.3	RNA polymerase II subunit A C-terminal domain phosphatase isoform 1
NM_048368.4	NP_430255.2	RNA polymerase II subunit A C-terminal domain phosphatase 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 RNA polymerase II CTD heptapeptide repeat phosphatase activity	IDA IDA: 通过直接分析推断	9765293	GOA
enables TFIIF-class transcription factor complex binding	IPI IPI: 通过物理相互作用推断	12732728	GOA
enables Tat protein binding	IPI IPI: 通过物理相互作用推断	15723517	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9765293	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in exit from mitosis	IMP IMP: 通过突变表型推断	22692537	GOA
involved in positive regulation by host of viral transcription	IDA IDA: 通过直接分析推断	15723517	GOA
involved in protein dephosphorylation	IDA IDA: 通过直接分析推断	9765293	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in centrosome	IDA IDA: 通过直接分析推断	22692537	GOA
located in midbody	IDA IDA: 通过直接分析推断	22692537	GOA
located in nucleus	IDA IDA: 通过直接分析推断	15723517	GOA
part of protein-containing complex	IMP IMP: 通过突变表型推断	12732728	GOA
located in spindle	IDA IDA: 通过直接分析推断	22692537	GOA
located in spindle midzone	IDA IDA: 通过直接分析推断	22692537	GOA
located in spindle pole	IDA IDA: 通过直接分析推断	22692537	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

CTDP1 蛋白结构

NIF

PTCB-BRCT

FCP1_C

0
200
400
600
800
961 a.a.

蛋白主名

其他名称

RNA polymerase II subunit A C-terminal domain phosphatase

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

CTDP1 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	CTDP1	Q9Y5B0	FANCI	Homo sapiens	Q9NVI1	TAP	31240132
种属内	CTDP1	Q9Y5B0	FANCI	Homo sapiens	Q9NVI1	Anti Bait CoIP	31240132
种属内	CTDP1	Q9Y5B0	FANCI	Homo sapiens	Q9NVI1	Anti Tag CoIP	31240132
种属内	CTDP1	Q9Y5B0	GTF2F1	Homo sapiens	P35269	Pull Down	12732728

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

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

CCFDN	Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Congenital, With Facial Dysmorphism And Neuropathy	Cataracts, Congenital, Facial Dysmorphism, And Neuropathy

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Esophageal Tuberculosis

Tuberculosis Of Esophagus

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Microphthalmia, Isolated 6

Isolated Microphthalmia 6	MCOP6
Microphthalmia, Posterior Nonsyndromic	Posterior Nonsyndromic Microphthalmia
Microphthalmia, Isolated, 6	Autosomal Recessive Posterior Microphthalmos
Posterior Non-Syndromic Microphthalmia	Microphthalmia, Isolated, Type 6

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Nanophthalmos

Nanophthalmia

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-RS03290	CTDP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CTDP1	VGNC	VGNC:106701
Rattus norvegicus	CTDP1	RGD	RGD:1311755
Mus musculus	CTDP1	MGD	MGI:1926953
Felis catus	CTDP1	VGNC	VGNC:61246
Macaca mulatta	CTDP1	VGNC	VGNC:71541
Canis familiaris	CTDP1	VGNC	VGNC:39692
Others	CTDP1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CTDP1 - CTD phosphatase subunit 1 Gene

关于 CTDP1

功能概要

CTDP1 基因产物(4)

CTDP1 蛋白结构

CTDP1 蛋白互作信息

关联疾病

直系同源

热门区域

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CTDP1 - CTD phosphatase subunit 1 Gene

关于 CTDP1

功能概要

CTDP1 基因产物(4)

CTDP1 蛋白结构

CTDP1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z