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  2. FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

中文名称:法尼基二磷酸法尼基转移酶 1

种属: Homo sapiens

同用名: SS; SQS; DGPT; ERG9; SQSD

基因 ID: 2222 | 基因类型: protein coding

关于 FDFT1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:11,795,582-11,839,309 (from NCBI)

This gene has 26 transcripts (splice variants), 1 gene allele, 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 32.6), colon (RPKM 26.2) and 25 other tissues.

功能概要

该基因编码位于甲羟戊酸途径分支点的膜相关酶。编码的蛋白质是胆固醇生物合成中的第一个特异性酶,在两步反应中催化两分子法尼基二磷酸二聚化形成角鲨烯。[RefSeq 提供,2008 年 7 月]

This gene encodes a membrane-associated Enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific Enzyme in Cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]

FDFT1 基因产物(11)

mRNA Protein Name
NM_001287742.2 NP_001274671.1 squalene synthase isoform 1
NM_001287743.2 NP_001274672.1 squalene synthase isoform 1
NM_001287744.2 NP_001274673.1 squalene synthase isoform 2
NM_001287745.2 NP_001274674.1 squalene synthase isoform 2
NM_001287747.1 NP_001274676.1 squalene synthase isoform 2
NM_001287748.1 NP_001274677.1 squalene synthase isoform 2
NM_001287749.2 NP_001274678.1 squalene synthase isoform 2
NM_001287750.2 NP_001274679.1 squalene synthase isoform 3
NM_001287751.2 NP_001274680.1 squalene synthase isoform 4
NM_001287756.2 NP_001274685.1 squalene synthase isoform 5
NM_004462.5 NP_004453.3 squalene synthase isoform 1

FDFT1 蛋白结构

SQS_PSY

SQS_PSY: Squalene/phytoene synthase (48 - 318)

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

squalene synthase

FPP:FPP farnesyltransferase

重组 FDFT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72193 FDFT1 Protein, Human (His) P37268 (E2-H417) ≥95%

关联疾病

疾病名称 别名
Squalene Synthase Deficiency

SQSD

Neurodevelopmental Disorder With Low Cholesterol And Abnormal Urine Organic Acids

Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Chagas Disease

American Trypanosomiasis

Chagas' Disease

Chagas' Disease With Digestive System Involvement

Chagas' Disease With Nervous System Involvement

Chagas' Disease With Other Organ Involvement

Infection Due To Trypanosoma Cruzi

South American Trypanosomiasis

Chronic Chagas Disease With Digestive System Involvement

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Myopathy

Muscular Diseases

Myopathies

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Bos taurus FDFT1 VGNC VGNC:56966
Mus musculus FDFT1 MGD MGI:102706
Rattus norvegicus FDFT1 RGD RGD:61834
Canis familiaris FDFT1 VGNC VGNC:40811
Felis catus FDFT1 VGNC VGNC:62220
Macaca mulatta FDFT1 VGNC VGNC:72631
Others FDFT1 NCBI