FPGS - folylpolyglutamate synthase Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2356

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence Referencias Source
enables tetrahydrofolylpolyglutamate synthase activity IDA
IDA: Inferred from direct assay
3619447 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in cell population proliferation IMP
IMP: Inferred from mutant phenotype
25164808 GOA
involved in folic acid-containing compound metabolic process IDA
IDA: Inferred from direct assay
3619447 GOA
involved in glutamate metabolic process IDA
IDA: Inferred from direct assay
3619447 GOA
involved in tetrahydrofolylpolyglutamate biosynthetic process IDA
IDA: Inferred from direct assay
3619447 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in cytosol IDA
IDA: Inferred from direct assay
25164808 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25164808 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
Protein Preferred Names Protein Names

folylpolyglutamate synthase, mitochondrial

  • folylpoly-gamma-glutamate synthetase

Related Diseases

Diseases Alias
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
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  • 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

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  • Precursor Cell Lymphoblastic Leukemia Lymphoma

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  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

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Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

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  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

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

Species Symbol Source 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
Others FPGS NCBI