THAP5 - THAP domain containing 5 Gene

中文名称：含 THAP 域 5

种属: Homo sapiens

基因 ID: 168451 | 基因类型: protein coding

关于 THAP5

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:108,541,759-108,569,768 (from NCBI)

This gene has 8 transcripts (splice variants) and 103 orthologues. Ubiquitous expression in thyroid (RPKM 13.7), testis (RPKM 10.7) and 25 other tissues.

功能概要

启用蛋白酶结合活性。参与细胞周期的负调节和 RNA 聚合酶 II 对转录的负调节。位于染色质和核质中。 [由基因组资源联盟提供，2022 年 4 月]

Enables protease binding activity. Involved in negative regulation of cell cycle and negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

THAP5 基因产物(5)

mRNA	Protein	Name
NM_001130475.3	NP_001123947.1	THAP domain-containing protein 5 isoform 1
NM_001287598.1	NP_001274527.1	THAP domain-containing protein 5 isoform 3
NM_001287599.1	NP_001274528.1	THAP domain-containing protein 5 isoform 3
NM_001287601.1	NP_001274530.1	THAP domain-containing protein 5 isoform 3
NM_182529.3	NP_872335.2	THAP domain-containing protein 5 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 protease binding	IPI IPI: 通过物理相互作用推断	19502560	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of cell cycle	IMP IMP: 通过突变表型推断	19502560	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	21110952	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	21110952	GOA
located in nucleus	IDA IDA: 通过直接分析推断	19502560	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

THAP5 蛋白结构

THAP

0
100
200
300
395 a.a.

蛋白主名

其他名称

THAP domain-containing protein 5

关联疾病

疾病名称

别名

Townes-Brocks Syndrome

Townes Syndrome	Renal-Ear-Anal-Radial Syndrome
Anus, Imperforate, With Hand, Foot And Ear Anomalies	Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome
Rear Syndrome	Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs
Tbs	Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs
Imperforate Anus With Hand, Foot And Ear Anomalies	Anal-Ear-Renal-Radial Malformation Syndrome
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome	Imperforate Anus-Hand And Foot Anomalies Syndrome
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome	Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome	Bor Syndrome
Branchiootorenal Dysplasia	Melnick-Fraser Syndrome
Branchiootorenal Spectrum Disorders	Branchio-Otorenal Dysplasia
Branchio Oto Renal Syndrome	Branchiootorenal/Branchiootic Syndrome
Bo Syndrome	Bor
Bos	Branchio-Otorenal Syndrome
Branchiootic Syndrome	Branchiootorenal Syndrome
Branchiootic Syndrome 1

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THAP5 - THAP domain containing 5 Gene

关于 THAP5

功能概要

THAP5 基因产物(5)

THAP5 蛋白结构

关联疾病

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THAP5 - THAP domain containing 5 Gene

关于 THAP5

功能概要

THAP5 基因产物(5)

THAP5 蛋白结构

关联疾病

相关产品

热门区域

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B

C

F

G

H

J

L

N

Q

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T

X

Y

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