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  3. GGPS1 - geranylgeranyl diphosphate synthase 1 Gene

GGPS1 - geranylgeranyl diphosphate synthase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GGPPS; MDHLO; GGPPS1; MUDHLOV

Gene ID: 9453 | Gene type: protein coding

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 Reference Source
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 Reference Source
involved in isoprenoid metabolic process IDA
IDA: Inferred from direct assay
10026212 GOA
Cellular Component GO Annotation Evidence Reference Source
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

Recombinant GGPS1 Proteins

Cat. No. Product Name Accession Purity
HY-P70224 GGPS1 Protein, Human (His) O95749 (M1-E300) ≥95%

Related Diseases

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05402 GGPS1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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