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  2. GGPS1 - geranylgeranyl diphosphate synthase 1 Gene

GGPS1 - geranylgeranyl diphosphate synthase 1 Gene

中文名称:香叶基香叶基二磷酸合酶 1

种属: Homo sapiens

同用名: GGPPS; MDHLO; GGPPS1; MUDHLOV

基因 ID: 9453 | 基因类型: protein coding

关于 GGPS1

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,327,216-235,344,532 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 14.2), prostate (RPKM 11.1) and 25 other tissues.

功能概要

该基因是异戊烯基转移酶家族的成员,编码具有香叶基香叶基二磷酸 (GGPP) 合酶活性的蛋白质。该酶催化法尼基二磷酸和异戊烯基二磷酸合成 GGPP。 GGPP 是一种重要的分子,负责蛋白质的 C20-异戊二烯化和核激素受体的调节。已经发现该基因的替代转录剪接变体,包括蛋白质编码和非蛋白质编码。[RefSeq 提供,2010 年 9 月]

This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The Enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

GGPS1 基因产物(5)

mRNA Protein Name
NM_001037277.1 NP_001032354.1 geranylgeranyl pyrophosphate synthase isoform A
NM_001037278.2 NP_001032355.1 geranylgeranyl pyrophosphate synthase isoform B
NM_001371477.1 NP_001358406.1 geranylgeranyl pyrophosphate synthase isoform A
NM_001371478.1 NP_001358407.1 geranylgeranyl pyrophosphate synthase isoform A
NM_004837.4 NP_004828.1 geranylgeranyl pyrophosphate synthase isoform A
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 farnesyltranstransferase activity IDA
IDA: 通过直接分析推断
9741684 GOA
enables farnesyltranstransferase activity IMP
IMP: 通过突变表型推断
32403198 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in isoprenoid metabolic process IDA
IDA: 通过直接分析推断
10026212 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Z disc IMP
IMP: 通过突变表型推断
32403198 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
32403198 GOA
located in perinuclear region of cytoplasm IMP
IMP: 通过突变表型推断
32403198 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

GGPS1 蛋白结构

polyprenyl_synt

polyprenyl_synt: Polyprenyl synthetase (13 - 262)

  • 0
  • 100
  • 200
  • 300 a.a.
蛋白主名 其他名称

geranylgeranyl pyrophosphate synthase

(2E,6E)-farnesyl diphosphate synthase

GGPS1 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
GGPS1 O95749 ATOX1 Homo sapiens O00244
Y2H Prey Pooling
25416956
种属内
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Prey Pooling
32296183
种属内
GGPS1 O95749 FAM120A Homo sapiens Q9NZB2
Anti Tag CoIP
33961781
种属内
GGPS1 O95749 CCDC85C Homo sapiens A6NKD9
Anti Tag CoIP
33961781
种属内
GGPS1 O95749 GGPS1 Homo sapiens O95749
Validated Y2H
32296183
种属内
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
25416956
种属内
GGPS1 O95749 FAM120A Homo sapiens Q9NZB2
Anti Tag CoIP
28514442
种属内
GGPS1 O95749 CCDC85C Homo sapiens A6NKD9
Anti Tag CoIP
28514442
种属内
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
32296183
种属内
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
31515488
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GGPS1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70224 GGPS1 Protein, Human (His) O95749 (M1-E300) ≥95%

关联疾病

疾病名称 别名
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome

MDHLO

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Myasthenic Syndrome, Congenital, 2c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 2c

CMS2C

Congenital Myasthenic Syndrome 2c Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 2c, Associated With Acetylcholine Receptor Deficiency

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Hyperinsulinism

Hyperinsulinemia

Mammary Paget'S Disease

Paget'S Disease

Mammary Paget Disease

Paget'S Disease Of The Breast

Paget Disease Of The Breast

Paget'S Disease Of The Nipple

Paget'S Disease, Mammary

Paget Cell Neoplasm

Paget Disease Of The Nipple

Pagets Disease Mammary

Osteitis Deformans

Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

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

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GGPS1 VGNC VGNC:99960
Canis familiaris GGPS1 VGNC VGNC:41201
Felis catus GGPS1 VGNC VGNC:62539
Rattus norvegicus GGPS1 RGD RGD:1359680
Mus musculus GGPS1 MGD MGI:1341724
Bos taurus GGPS1 VGNC VGNC:29343
Others GGPS1 NCBI