GGPS1 - geranylgeranyl diphosphate synthase 1 Gene

Also Known as GGPPS; MDHLO; GGPPS1; MUDHLOV

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 9453

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables farnesyltranstransferase activity IDA
IDA: Inferred from direct assay
9741684 GOA
enables farnesyltranstransferase activity IMP
IMP: Inferred from mutant phenotype
32403198 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in isoprenoid metabolic process IDA
IDA: Inferred from direct assay
10026212 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in Z disc IMP
IMP: Inferred from mutant phenotype
32403198 GOA
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
32403198 GOA
located in perinuclear region of cytoplasm IMP
IMP: Inferred from mutant phenotype
32403198 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GGPS1 Protein Structure

polyprenyl_synt

polyprenyl_synt: Polyprenyl synthetase (13 - 262)

  • 0
  • 100
  • 200
  • 300 a.a.
Protein Preferred Names Protein Names

geranylgeranyl pyrophosphate synthase

  • (2E,6E)-farnesyl diphosphate synthase

GGPS1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
GGPS1 O95749 ATOX1 Homo sapiens O00244
Y2H Prey Pooling
25416956
Intra
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Prey Pooling
32296183
Intra
GGPS1 O95749 FAM120A Homo sapiens Q9NZB2
Anti Tag CoIP
33961781
Intra
GGPS1 O95749 CCDC85C Homo sapiens A6NKD9
Anti Tag CoIP
33961781
Intra
GGPS1 O95749 GGPS1 Homo sapiens O95749
Validated Y2H
32296183
Intra
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
25416956
Intra
GGPS1 O95749 FAM120A Homo sapiens Q9NZB2
Anti Tag CoIP
28514442
Intra
GGPS1 O95749 CCDC85C Homo sapiens A6NKD9
Anti Tag CoIP
28514442
Intra
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
32296183
Intra
GGPS1 O95749 GGPS1 Homo sapiens O95749
Y2H Array
31515488
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GGPS1 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P70224 GGPS1 Protein, Human (His) O95749 (M1-E300) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
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
Diseases Alias
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

Orthologs Information

生物種 Symbol 由来 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