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FOLH1 folate hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 2346, updated on 5-Aug-2018

Summary

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

Genomic context

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)

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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