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    FOLH1 folate hydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 2346, updated on 19-May-2018
    Official Symbol
    FOLH1provided by HGNC
    Official Full Name
    folate hydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:3788
    See related
    Ensembl:ENSG00000086205 MIM:600934; Vega:OTTHUMG00000166625
    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
    Also known as
    PSM; FGCP; FOLH; GCP2; PSMA; mGCP; GCPII; NAALAD1; NAALAdase
    Summary
    This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]
    Expression
    Biased expression in duodenum (RPKM 94.9), prostate (RPKM 43.3) and 6 other tissues See more
    Orthologs
    See FOLH1 in Genome Data Viewer
    Location:
    11p11.12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (49145094..49208670, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (49168187..49230222, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 77B, pseudogene Neighboring gene UBTF like 9 (pseudogene) Neighboring gene NADPH oxidase 4 pseudogene Neighboring gene chromobox 3 pseudogene 8 Neighboring gene tyrosinase-like (pseudogene)

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Ac-Asp-Glu binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dipeptidase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metallocarboxypeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    tetrahydrofolyl-poly(glutamate) polymer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    C-terminal protein deglutamylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular amino acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    folic acid-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    glutamate carboxypeptidase 2
    Names
    N-acetylated alpha-linked acidic dipeptidase 1
    N-acetylated-alpha-linked acidic dipeptidase I
    NAALADase I
    cell growth-inhibiting gene 27 protein
    folylpoly-gamma-glutamate carboxypeptidase
    glutamate carboxylase II
    glutamate carboxypeptidase II
    membrane glutamate carboxypeptidase
    prostate specific membrane antigen variant F
    pteroylpoly-gamma-glutamate carboxypeptidase
    NP_001014986.1
    NP_001180400.1
    NP_001180401.1
    NP_001180402.1
    NP_001338165.1
    NP_004467.1
    XP_011518260.2
    XP_016872921.1
    XP_016872922.1
    XP_016872923.1
    XP_016872924.1
    XP_016872933.1
    XP_016872934.1
    XP_016872935.1
    XP_016872936.1
    XP_016872937.1
    XP_016872938.1
    XP_016872939.1
    XP_016872940.1
    XP_024304179.1

    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_029170.1 RefSeqGene

      Range
      5001..68577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001014986.2NP_001014986.1  glutamate carboxypeptidase 2 isoform 2

      See identical proteins and their annotated locations for NP_001014986.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC118273, BC025672, CA432757, M99487
      Consensus CDS
      CCDS31493.1
      UniProtKB/Swiss-Prot
      Q04609
      Related
      ENSP00000349129.3, OTTHUMP00000233841, ENST00000356696.7
      Conserved Domains (4) summary
      cd08022
      Location:348595
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:120346
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:632716
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:58114
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    2. NM_001193471.2NP_001180400.1  glutamate carboxypeptidase 2 isoform 3

      See identical proteins and their annotated locations for NP_001180400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC118273, CA432757, EF488811, M99487
      Consensus CDS
      CCDS53628.1
      UniProtKB/Swiss-Prot
      Q04609
      Related
      ENSP00000344131.7, OTTHUMP00000233843, ENST00000340334.11
      Conserved Domains (4) summary
      cd08022
      Location:333580
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:105331
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:617732
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:4399
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    3. NM_001193472.2NP_001180401.1  glutamate carboxypeptidase 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AC118273, BC025672, CA432757, EF488811, M99487
      Consensus CDS
      CCDS53627.1
      UniProtKB/Swiss-Prot
      Q04609
      Related
      ENSP00000431463.1, OTTHUMP00000233844, ENST00000533034.1
      Conserved Domains (4) summary
      cd08022
      Location:333580
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:105331
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:617701
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:4399
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    4. NM_001193473.2NP_001180402.1  glutamate carboxypeptidase 2 isoform 5

      See identical proteins and their annotated locations for NP_001180402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC118273, AK295368, CA432757, M99487
      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    5. NM_001351236.1NP_001338165.1  glutamate carboxypeptidase 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC110742, AC118273, CA432757
      Conserved Domains (4) summary
      cd08022
      Location:291538
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:63289
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:575655
      TFR_dimer; Transferrin receptor-like dimerisation domain
      cl14876
      Location:157
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    6. NM_004476.2NP_004467.1  glutamate carboxypeptidase 2 isoform 1

      See identical proteins and their annotated locations for NP_004467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC118273, CA432757, M99487
      Consensus CDS
      CCDS7946.1
      UniProtKB/Swiss-Prot
      Q04609
      Related
      ENSP00000256999.2, OTTHUMP00000233840, ENST00000256999.6
      Conserved Domains (4) summary
      cd08022
      Location:348595
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:120346
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:632747
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:58114
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      49145094..49208670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017432.1XP_016872921.1  glutamate carboxypeptidase 2 isoform X1

      Conserved Domains (4) summary
      cd08022
      Location:403650
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:175401
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:687802
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:113169
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    2. XM_017017451.2XP_016872940.1  glutamate carboxypeptidase 2 isoform X7

      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324404
      TFR_dimer; Transferrin receptor-like dimerisation domain
      cl28883
      Location:138
      PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...
    3. XM_017017435.2XP_016872924.1  glutamate carboxypeptidase 2 isoform X4

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (4) summary
      cd08022
      Location:333580
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:105331
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:617701
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:4399
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    4. XM_017017447.1XP_016872936.1  glutamate carboxypeptidase 2 isoform X6

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    5. XM_017017433.2XP_016872922.1  glutamate carboxypeptidase 2 isoform X2

    6. XM_017017434.1XP_016872923.1  glutamate carboxypeptidase 2 isoform X3

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (4) summary
      cd08022
      Location:333580
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      cd02121
      Location:105331
      PA_GCPII_like; PA_GCPII_like: Protease-associated domain containing protein, glutamate carboxypeptidase II (GCPII)-like. This group contains various PA domain-containing proteins similar to GCPII including, GCPIII (NAALADase2) and NAALADase L. These proteins belong to ...
      pfam04253
      Location:617732
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl14876
      Location:4399
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    7. XM_017017450.2XP_016872939.1  glutamate carboxypeptidase 2 isoform X7

      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324404
      TFR_dimer; Transferrin receptor-like dimerisation domain
      cl28883
      Location:138
      PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...
    8. XM_017017445.1XP_016872934.1  glutamate carboxypeptidase 2 isoform X6

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    9. XM_017017446.1XP_016872935.1  glutamate carboxypeptidase 2 isoform X6

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    10. XM_017017449.2XP_016872938.1  glutamate carboxypeptidase 2 isoform X7

      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324404
      TFR_dimer; Transferrin receptor-like dimerisation domain
      cl28883
      Location:138
      PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...
    11. XM_017017444.2XP_016872933.1  glutamate carboxypeptidase 2 isoform X6

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    12. XM_024448411.1XP_024304179.1  glutamate carboxypeptidase 2 isoform X7

      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324404
      TFR_dimer; Transferrin receptor-like dimerisation domain
      cl28883
      Location:138
      PA; PA: Protease-associated (PA) domain. The PA domain is an insert domain in a diverse fraction of proteases. The significance of the PA domain to many of the proteins in which it is inserted is undetermined. It may be a protein-protein interaction domain. ...
    13. XM_017017448.1XP_016872937.1  glutamate carboxypeptidase 2 isoform X6

      UniProtKB/Swiss-Prot
      Q04609
      Conserved Domains (3) summary
      cd08022
      Location:40287
      M28_PSMA_like; M28 Zn-peptidase prostate-specific membrane antigen
      pfam04253
      Location:324439
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:138
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
    14. XM_011519958.3XP_011518260.2  glutamate carboxypeptidase 2 isoform X5

    RNA

    1. XR_001747818.1 RNA Sequence

    2. XR_001747819.1 RNA Sequence

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