2. Gene
  3. PUS7 - pseudouridine synthase 7 Gene

PUS7 - pseudouridine synthase 7 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：假尿苷合酶 7

种属: Homo sapiens

同用名: IDDABS

基因 ID: 54517 | 基因类型: protein coding

关于 PUS7

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:105,456,501-105,522,271 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues.

功能概要

启用酶结合活性和假尿苷合酶活性。参与多个过程，包括假尿苷合成；造血干细胞分化的调节；和中胚层发育的调节。位于核内。 [由基因组资源联盟提供，2022 年 4 月]

Enables enzyme binding activity and pseudouridine synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PUS7 基因产物(3)

mRNA Protein Name
NM_001318163.1 NP_001305092.1 pseudouridylate synthase 7 homolog isoform a
NM_001318164.2 NP_001305093.1 pseudouridylate synthase 7 homolog isoform b
NM_019042.5 NP_061915.2 pseudouridylate synthase 7 homolog isoform b
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 enzyme binding IPI
IPI: 通过物理相互作用推断
23382074 GOA
enables pseudouridine synthase activity IDA
IDA: 通过直接分析推断
29628141 GOA
enables pseudouridine synthase activity IMP
IMP: 通过突变表型推断
28073919 GOA
enables tRNA pseudouridine(13) synthase activity IDA
IDA: 通过直接分析推断
34718722 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA pseudouridine synthesis IDA
IDA: 通过直接分析推断
31477916 GOA
involved in mRNA pseudouridine synthesis IMP
IMP: 通过突变表型推断
28073919 GOA
involved in negative regulation of translation IDA
IDA: 通过直接分析推断
29628141 GOA
involved in negative regulation of translation IMP
IMP: 通过突变表型推断
35144859 GOA
involved in regulation of hematopoietic stem cell differentiation IMP
IMP: 通过突变表型推断
29628141 GOA
involved in regulation of mesoderm development IMP
IMP: 通过突变表型推断
29628141 GOA
involved in tRNA pseudouridine synthesis IDA
IDA: 通过直接分析推断
29628141 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in nucleus IDA
IDA: 通过直接分析推断
35144859 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29628141 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

PUS7 蛋白结构

TruD

TruD: tRNA pseudouridine synthase D (TruD) (251 - 642)

  • 0
  • 200
  • 400
  • 600
  • 661 a.a.
蛋白主名 其他名称

pseudouridylate synthase 7 homolog

pseudouridylate synthase 7 (putative)

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature

IDDABS
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

Mitochondrial Myopathy And Sideroblastic Anemia

MLASA1

Mlasa

Myopathy, Lactic Acidosis And Sideroblastic Anemia

Myopathy With Lactic Acidosis And Sideroblastic Anemia

Sideroblastic Anemia And Mitochondrial Myopathy

Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11470 PUS7 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20805 Pus7 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27319 Pus7 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PUS7 MGD MGI:1925947
Felis catus PUS7 VGNC VGNC:64440
Canis familiaris PUS7 VGNC VGNC:96693
Rattus norvegicus PUS7 RGD RGD:1307054
Bos taurus PUS7 VGNC VGNC:54567
Macaca mulatta PUS7 VGNC VGNC:76541
Others PUS7 NCBI
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