1. Gene
  2. FPGS - folylpolyglutamate synthase Gene

FPGS - folylpolyglutamate synthase Gene

中文名称:叶酰聚谷氨酸合酶

种属: Homo sapiens

基因 ID: 2356 | 基因类型: protein coding

关于 FPGS

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:127,802,858-127,814,506 (from NCBI)

This gene has 21 transcripts (splice variants) and 228 orthologues. Ubiquitous expression in ovary (RPKM 14.6), fat (RPKM 12.1) and 25 other tissues.

功能概要

该基因编码叶酰聚谷氨酸合成酶。这种酶在建立和维持细胞溶质和线粒体叶酰聚谷氨酸浓度方面起着核心作用,因此对于叶酸稳态和增殖细胞的存活至关重要。该酶催化依赖 ATP 的谷氨酸部分添加到叶酸和叶酸衍生物中。可变剪接导致编码不同亚型的转录变体。[RefSeq 提供,2014 年 1 月]

This gene encodes the folylpolyglutamate synthetase Enzyme. This Enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This Enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]

FPGS 基因产物(3)

mRNA Protein Name
NM_001018078.2 NP_001018088.1 folylpolyglutamate synthase, mitochondrial isoform b
NM_001288803.1 NP_001275732.1 folylpolyglutamate synthase, mitochondrial isoform c precursor
NM_004957.6 NP_004948.4 folylpolyglutamate synthase, mitochondrial isoform a precursor
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 tetrahydrofolylpolyglutamate synthase activity IDA
IDA: 通过直接分析推断
3619447 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell population proliferation IMP
IMP: 通过突变表型推断
25164808 GOA
involved in folic acid-containing compound metabolic process IDA
IDA: 通过直接分析推断
3619447 GOA
involved in glutamate metabolic process IDA
IDA: 通过直接分析推断
3619447 GOA
involved in tetrahydrofolylpolyglutamate biosynthetic process IDA
IDA: 通过直接分析推断
3619447 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
25164808 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
25164808 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
蛋白主名 其他名称

folylpolyglutamate synthase, mitochondrial

folylpoly-gamma-glutamate synthetase

关联疾病

疾病名称 别名
Cutis Laxa, Autosomal Dominant 2

ADCL2

Autosomal Dominant Cutis Laxa 2

Cutis Laxa, Autosomal Dominant, 2

Cutis Laxa, Autosomal Dominant, Type 2

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Subacute Leukemia
Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia

Childhood All

Pediatric Acute Lymphoblastic Leukemia

Lymphoblastic Leukemia Acute Childhood

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

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 FPGS VGNC VGNC:55047
Felis catus FPGS VGNC VGNC:62351
Canis familiaris FPGS VGNC VGNC:40973
Mus musculus FPGS MGD MGI:95576
Macaca mulatta FPGS VGNC VGNC:72815
Rattus norvegicus FPGS RGD RGD:1587713
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