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    FPGS folylpolyglutamate synthase [ Homo sapiens (human) ]

    Gene ID: 2356, updated on 5-Mar-2024

    Summary

    Official Symbol
    FPGSprovided by HGNC
    Official Full Name
    folylpolyglutamate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:3824
    See related
    Ensembl:ENSG00000136877 MIM:136510; AllianceGenome:HGNC:3824
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 14.6), fat (RPKM 12.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FPGS in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127802858..127814506)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140010277..140025149)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130565137..130576360)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7866 Neighboring gene Sharpr-MPRA regulatory region 2041 Neighboring gene microRNA 3960 Neighboring gene microRNA 2861 Neighboring gene cyclin dependent kinase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130571111-130571753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130571754-130572397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130572398-130573040 Neighboring gene uncharacterized LOC102723566 Neighboring gene endoglin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130588231-130588831 Neighboring gene uncharacterized LOC105379841

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of folylpolyglutamate synthase (FPGS) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tetrahydrofolylpolyglutamate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tetrahydrofolylpolyglutamate synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tetrahydrofolylpolyglutamate synthase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    folylpolyglutamate synthase, mitochondrial
    Names
    folylpoly-gamma-glutamate synthetase
    tetrahydrofolate synthase
    tetrahydrofolylpolyglutamate synthase
    NP_001018088.1
    NP_001275732.1
    NP_004948.4
    XP_005251921.1
    XP_047279082.1
    XP_047279083.1
    XP_054218546.1
    XP_054218547.1
    XP_054218548.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023245.1 RefSeqGene

      Range
      5008..16207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018078.2NP_001018088.1  folylpolyglutamate synthase, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001018088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon for its 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform b which is a cytosolic protein and has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK056920, CB854085, DA987755
      Consensus CDS
      CCDS35149.1
      UniProtKB/Swiss-Prot
      Q05932
      Related
      ENSP00000362322.3, ENST00000373225.7
      Conserved Domains (2) summary
      PLN02881
      Location:16531
      PLN02881; tetrahydrofolylpolyglutamate synthase
      pfam02875
      Location:310391
      Mur_ligase_C; Mur ligase family, glutamate ligase domain
    2. NM_001288803.1NP_001275732.1  folylpolyglutamate synthase, mitochondrial isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This variant has two alternative translational start codons in the same reading frame which encode either a longer, signal-containing mitochondrial protein (isoform c) or a shorter, signal-less cytosolic protein.
      Source sequence(s)
      AK295309, CB854085, DC365273
      Consensus CDS
      CCDS75905.1
      UniProtKB/Swiss-Prot
      Q05932
      Related
      ENSP00000377309.2, ENST00000393706.6
      Conserved Domains (2) summary
      PLN02881
      Location:42555
      PLN02881; tetrahydrofolylpolyglutamate synthase
      pfam02875
      Location:334415
      Mur_ligase_C; Mur ligase family, glutamate ligase domain
    3. NM_004957.6NP_004948.4  folylpolyglutamate synthase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_004948.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform (a). This variant has two alternative translational start codons in the same reading frame which encode either a longer, signal-containing mitochondrial protein or a shorter, signal-less cytosolic protein.
      Source sequence(s)
      BC007121, BC064393, CB854085, DC365273
      Consensus CDS
      CCDS35148.1
      UniProtKB/Swiss-Prot
      B3KPW4, B7Z2Z3, F5H0K6, Q05932, Q5JU19, Q5JU22, Q6P2P6
      Related
      ENSP00000362344.2, ENST00000373247.7
      Conserved Domains (2) summary
      PLN02881
      Location:42581
      PLN02881; tetrahydrofolylpolyglutamate synthase
      pfam02875
      Location:360441
      Mur_ligase_C; Mur ligase family, glutamate ligase domain

    RNA

    1. NR_110170.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC009901, BG328181, CB854085, DC365273
      Related
      ENST00000460181.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127802858..127814506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251864.5XP_005251921.1  folylpolyglutamate synthase, mitochondrial isoform X2

      Conserved Domains (2) summary
      PLN02881
      Location:42441
      PLN02881; tetrahydrofolylpolyglutamate synthase
      pfam02875
      Location:360441
      Mur_ligase_C; Mur ligase family, glutamate ligase domain
    2. XM_047423127.1XP_047279083.1  folylpolyglutamate synthase, mitochondrial isoform X3

    3. XM_047423126.1XP_047279082.1  folylpolyglutamate synthase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140010277..140025149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362572.1XP_054218547.1  folylpolyglutamate synthase, mitochondrial isoform X2

    2. XM_054362573.1XP_054218548.1  folylpolyglutamate synthase, mitochondrial isoform X3

    3. XM_054362571.1XP_054218546.1  folylpolyglutamate synthase, mitochondrial isoform X1