FOLH1 Gene (Protein Coding)

Folate Hydrolase 1

GC11M066310
GIFtS:
47
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 mutatio... See more...

Aliases for FOLH1 Gene

Aliases for FOLH1 Gene

  • Folate Hydrolase 1 2 3 4 5
  • Glutamate Carboxypeptidase 2 2 3 4
  • NAALAD1 2 3 4
  • GCPII 2 3 4
  • PSMA 2 3 4
  • PSM 2 3 4
  • N-Acetylated-Alpha-Linked Acidic Dipeptidase I 3 4
  • Pteroylpoly-Gamma-Glutamate Carboxypeptidase 3 4
  • Folylpoly-Gamma-Glutamate Carboxypeptidase 3 4
  • Cell Growth-Inhibiting Gene 27 Protein 3 4
  • Membrane Glutamate Carboxypeptidase 3 4
  • Glutamate Carboxypeptidase II 3 4
  • Glutamate Carboxylase II 2 3
  • EC 3.4.17.21 4 50
  • NAALADase I 3 4
  • NAALAdase 2 3
  • FGCP 3 4
  • FOLH 3 4
  • GCP2 2 3
  • MGCP 3 4
  • Folate Hydrolase (Prostate-Specific Membrane Antigen) 1 2
  • N-Acetylated Alpha-Linked Acidic Dipeptidase 1 3
  • Prostate Specific Membrane Antigen Variant F 3
  • Prostate-Specific Membrane Antigen 4
  • FOLH1 5

External Ids for FOLH1 Gene

Previous HGNC Symbols for FOLH1 Gene

  • FOLH

Previous GeneCards Identifiers for FOLH1 Gene

  • GC11M051274
  • GC11M050361
  • GC11M049199
  • GC11M049132
  • GC11M049124
  • GC11M048888
  • GC11M049168
  • GC11M049596
  • GC11M049622
  • GC11M055847
  • GC11M056090
  • GC11M056227
  • GC11M059742
  • GC11M050827
  • GC11M051622
  • GC11M052284
  • GC11M052944
  • GC11M053613
  • GC11M054278
  • GC11M054944
  • GC11M055650
  • GC11M061160
  • GC11M063645

Summaries for FOLH1 Gene

Entrez Gene Summary for FOLH1 Gene

  • 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]

GeneCards Summary for FOLH1 Gene

FOLH1 (Folate Hydrolase 1) is a Protein Coding gene. Diseases associated with FOLH1 include Prostate Cancer and Canavan Disease. Among its related pathways are Amino acid synthesis and interconversion (transamination) and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include peptidase activity and carboxypeptidase activity. An important paralog of this gene is NAALAD2.

UniProtKB/Swiss-Prot Summary for FOLH1 Gene

  • Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Has a preference for tri-alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression.
  • Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.

Tocris Summary for FOLH1 Gene

  • Carboxypeptidases are a group of enzymes that cleave amino acids from the C'-terminal of proteins and peptides by hydrolysis. There are three subgroups; serine-type carboxypeptidases, metallocarboxypeptidases, and cysteine-type carboxypeptidases.

Gene Wiki entry for FOLH1 Gene

Additional gene information for FOLH1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOLH1 Gene

Genomics for FOLH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FOLH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J049206 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 274.3 +0.6 611 2.5 YY1 HNF4A RAD21 REST SP1 TAF1 FOLH1 HSALNG0084130 HSALNG0084129 TRIM64C
GH11J049166 Enhancer 0.5 dbSUPER 36.5 +36.4 36391 10.7 ZNF654 RAD21 SMC3 NFE2 CTCF HNF4A SP1 MAFK FOLH1 GTF2IP11 RF00017-833 HSALNG0084128 TRIM64C
GH11J049226 Enhancer 0.6 Ensembl dbSUPER 22.1 -21.0 -20958 0.4 ZNF654 RAD21 SMC3 CTCF TRIM22 FOLH1 RF00004-021 HSALNG0084131 OR4C13
GH11J049183 Enhancer 0.5 dbSUPER 25.7 +19.7 19729 11.6 SOX5 HNF4A SP1 CREB1 CTCF SOX13 FOLH1 HSALNG0084129 HSALNG0084130 TRIM64C
GH11J049233 Enhancer 0.7 Ensembl ENCODE 16.2 -24.9 -24859 2.6 CEBPB FOXA2 GABPB1 HNF4A FOXA1 ATF1 CTCF CREB1 GABPA TFE3 FOLH1 GRM5P1 RF00004-021 HSALNG0084131 OR4C13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOLH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOLH1

Top Transcription factor binding sites by QIAGEN in the FOLH1 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for FOLH1 Gene

Latest Assembly
chr11:49,145,092-49,208,642
(GRCh38/hg38)
Size:
63,551 bases
Orientation:
Minus strand

Previous Assembly
chr11:49,166,644-49,230,154
(GRCh37/hg19 by Entrez Gene)
Size:
63,511 bases
Orientation:
Minus strand

chr11:49,168,187-49,230,222
(GRCh37/hg19 by Ensembl)
Size:
62,036 bases
Orientation:
Minus strand

Genomic View for FOLH1 Gene

Genes around FOLH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOLH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOLH1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FOLH1 Gene

Proteins for FOLH1 Gene

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  • Protein details for FOLH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04609-FOLH1_HUMAN
    Recommended name:
    Glutamate carboxypeptidase 2
    Protein Accession:
    Q04609
    Secondary Accessions:
    • A4UU12
    • A9CB79
    • B7Z312
    • B7Z343
    • D3DQS5
    • E9PDX8
    • O43748
    • Q16305
    • Q541A4
    • Q8TAY3
    • Q9NP15
    • Q9NYE2
    • Q9P1P8

    Protein attributes for FOLH1 Gene

    Size:
    750 amino acids
    Molecular mass:
    84331 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAF31167.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • PSMA is used as a diagnostic and prognostic indicator of prostate cancer, and as a possible marker for various neurological disorders such as schizophrenia, Alzheimer disease and Huntington disease.
    • [Isoform PSMA-3]: Incomplete sequence.
    • [Isoform PSMA-4]: Incomplete sequence.

    Three dimensional structures from OCA and Proteopedia for FOLH1 Gene

    Alternative splice isoforms for FOLH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOLH1 Gene

Protein Expression for FOLH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FOLH1 Gene

Q04609:
  • EPDRYVILGGHRD
  • IEGNYTLRVDCTPL
  • ILYSDPADYF
  • LERAFIDPLGLP
  • SFDSLFSAV
  • PRISKLGSGNDFEVFFQRLGIASGRARYTK

Post-translational modifications for FOLH1 Gene

  • The first two amino acids at the N-terminus of isoform PSMA' appear to be cleaved by limited proteolysis.
  • The N-terminus is blocked.
  • Glycosylation at Asn76, Asn336, Asn51, Asn195, Asn638, Asn121, Asn140, Asn153, Asn459, and Asn476
  • Modification sites at PhosphoSitePlus

Other Protein References for FOLH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FOLH1

Domains & Families for FOLH1 Gene

Gene Families for FOLH1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FOLH1 Gene

InterPro:
Blocks:
  • Protease-associated PA
  • Transferrin receptor-like dimerisation domain
  • Peptidase family M28

Suggested Antigen Peptide Sequences for FOLH1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60551 (B7Z312_HUMAN)
  • cDNA FLJ57056 (B7Z6L3_HUMAN)
  • Pteroylpoly-gamma-glutamate carboxypeptidase (FOLH1_HUMAN)
  • FOLH1 protein (Q2VPJ0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q04609

UniProtKB/Swiss-Prot:

FOLH1_HUMAN :
  • The NAALADase activity is found in the central region, the dipeptidyl peptidase IV type activity in the C-terminal.
  • Belongs to the peptidase M28 family. M28B subfamily.
Domain:
  • The NAALADase activity is found in the central region, the dipeptidyl peptidase IV type activity in the C-terminal.
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with FOLH1: view

Function for FOLH1 Gene

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Molecular function for FOLH1 Gene

UniProtKB/Swiss-Prot Function:
Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Has a preference for tri-alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression.
UniProtKB/Swiss-Prot Function:
Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of an unsubstituted, C-terminal glutamyl residue, typically from Ac-Asp-Glu or folylpoly-gamma-glutamates.; EC=3.4.17.21;.
UniProtKB/Swiss-Prot Induction:
In the prostate, up-regulated in response to androgen deprivation.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Stable at pH greater than 6.5.;
UniProtKB/Swiss-Prot EnzymeRegulation:
The NAALADase activity is inhibited by beta-NAAG, quisqualic acid, 2-(phosphonomethyl) pentanedioic acid (PMPA) and EDTA. Activated by cobalt.

Enzyme Numbers (IUBMB) for FOLH1 Gene

Phenotypes From GWAS Catalog for FOLH1 Gene

Gene Ontology (GO) - Molecular Function for FOLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004180 carboxypeptidase activity IBA 21873635
GO:0004181 metallocarboxypeptidase activity IDA 12949938
GO:0005515 protein binding IPI --
GO:0008233 peptidase activity NAS --
genes like me logo Genes that share ontologies with FOLH1: view
genes like me logo Genes that share phenotypes with FOLH1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOLH1

Clone products for research

  • Addgene plasmids for FOLH1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FOLH1 Gene

Localization for FOLH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOLH1 Gene

Cell membrane. Single-pass type II membrane protein.
[Isoform PSMA']: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOLH1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FOLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 8417812
GO:0009986 cell surface IDA 12949938
GO:0016020 membrane IEA,NAS --
genes like me logo Genes that share ontologies with FOLH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOLH1 Gene

Pathways & Interactions for FOLH1 Gene

genes like me logo Genes that share pathways with FOLH1: view

Interacting Proteins for FOLH1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: Q04609-FOLH1_HUMAN ENSP00000256999 for FOLH1 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for FOLH1

Gene Ontology (GO) - Biological Process for FOLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,NAS --
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0035609 C-terminal protein deglutamylation IDA 12949938
genes like me logo Genes that share ontologies with FOLH1: view

No data available for SIGNOR curated interactions for FOLH1 Gene

Drugs & Compounds for FOLH1 Gene

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(36) Drugs for FOLH1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Target 324
Docetaxel Approved, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2429
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884
Capromab pendetide Approved Pharma Target, other/unknown 0
Mercaptopurine Approved Pharma 237

(19) Additional Compounds for FOLH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for FOLH1 Gene

Compound Action Cas Number
2-MPPA Selective glutamate carboxypeptidase II (GCP II) inhibitor; orally bioavailable 254737-29-6
PMPA (NAALADase inhibitor) GCP II inhibitor 173039-10-6
ZJ 43 Glutamate carboxypeptidase II and III (NAALADase, NAAG peptidase) inhibitor 723331-20-2

(3) ApexBio Compounds for FOLH1 Gene

Compound Action Cas Number
2-MPPA 254737-29-6
PMPA (NAALADase inhibitor) Glutamate carboxypeptidase 2 inhibitor 173039-10-6
ZJ 43 GCP II and III/NAAG peptidase/NAALADase inhibitor 723331-20-2
genes like me logo Genes that share compounds with FOLH1: view

Drug products for research

Transcripts for FOLH1 Gene

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mRNA/cDNA for FOLH1 Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOLH1

Clone products for research

  • Addgene plasmids for FOLH1

Alternative Splicing Database (ASD) splice patterns (SP) for FOLH1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - -

Relevant External Links for FOLH1 Gene

GeneLoc Exon Structure for
FOLH1

Expression for FOLH1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOLH1 Gene

mRNA expression in normal human tissues for FOLH1 Gene
mRNA expression by GTEx for FOLH1 GenemRNA expression by BioGPS for FOLH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOLH1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.8), Prostate (x7.3), Brain - Substantia nigra (x5.7), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for FOLH1 Gene

This gene is overexpressed in Pancreatic juice (18.5), Fetal gut (16.9), Salivary gland (9.2), and Platelet (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOLH1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOLH1

SOURCE GeneReport for Unigene cluster for FOLH1 Gene:

Hs.654487

mRNA Expression by UniProt/SwissProt for FOLH1 Gene:

Q04609-FOLH1_HUMAN
Tissue specificity: Highly expressed in prostate epithelium. Detected in urinary bladder, kidney, testis, ovary, fallopian tube, breast, adrenal gland, liver, esophagus, stomach, small intestine, colon and brain (at protein level). Detected in the small intestine, brain, kidney, liver, spleen, colon, trachea, spinal cord and the capillary endothelium of a variety of tumors. Expressed specifically in jejunum brush border membranes. In the brain, highly expressed in the ventral striatum and brain stem. Also expressed in fetal liver and kidney. Isoform PSMA' is the most abundant form in normal prostate. Isoform PSMA-1 is the most abundant form in primary prostate tumors. Isoform PSMA-3 is also found in normal prostate as well as in brain and liver. Isoform PSMA-9 is specifically expressed in prostate cancer.

Evidence on tissue expression from TISSUES for FOLH1 Gene

  • Nervous system(4.9)
  • Intestine(4.7)
  • Liver(4.6)
  • Lung(4.4)
  • Kidney(3.2)
  • Lymph node(2.5)
  • Blood(2.4)
  • Heart(2.3)
  • Skin(2.2)
  • Spleen(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with FOLH1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOLH1 Gene

Orthologs for FOLH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FOLH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FOLH1 29 30
  • 99.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FOLH1 30
  • 94 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FOLH1 30
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Folh1 30
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FOLH1 30
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FOLH1 30
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FOLH1 30
  • 74 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FOLH1 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.8739 29
Zebrafish
(Danio rerio)
 Actinopterygii naalad2 30
  • 66 (a)
 OneToMany
zgc56429 29
Worm
(Caenorhabditis elegans)
 Secernentea gcp-2.1 30
  • 32 (a)
 ManyToMany
C35C5.2 31
  • 32 (a)
gcp-2.2 30
  • 29 (a)
 ManyToMany
gcp-2.3 30
  • 28 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS70 30
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 44 (a)
 ManyToMany
-- 30
  • 44 (a)
 ManyToMany
-- 30
  • 37 (a)
 ManyToMany
-- 30
  • 37 (a)
 ManyToMany
Species where no ortholog for FOLH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FOLH1 Gene

ENSEMBL:
Gene Tree for FOLH1 (if available)
TreeFam:
Gene Tree for FOLH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOLH1: view image
Alliance of Genome Resources:
Additional Orthologs for FOLH1

Paralogs for FOLH1 Gene

Paralogs for FOLH1 Gene

(4) SIMAP similar genes for FOLH1 Gene using alignment to 6 proteins:

  • FOLH1_HUMAN
  • E9PI29_HUMAN
  • E9PKM3_HUMAN
  • E9PLV0_HUMAN
  • E9PMK6_HUMAN
  • Q2VPJ0_HUMAN

Pseudogenes.org Pseudogenes for FOLH1 Gene

genes like me logo Genes that share paralogs with FOLH1: view

Variants for FOLH1 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for FOLH1 Gene

FOLH1_HUMAN-Q04609
Genetic variation in FOLH1 may be associated with low folate levels and consequent hyperhomocysteinemia. This condition can result in increased risk of cardiovascular disease, neural tube defects, and cognitive deficits.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOLH1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs137879711 Benign: not provided 49,192,842(-) G/A
NM_004476.3(FOLH1):c.464C>T (p.Ser155Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs138510346 Benign: not provided 49,192,828(-) G/C
NM_004476.3(FOLH1):c.478C>G (p.Pro160Ala) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs182169 Likely Benign: not provided 49,185,763(-) A/G
NM_004476.3(FOLH1):c.732T>C (p.Asp244=) 		SYNONYMOUS_VARIANT,INTRON
rs79155991 Benign: not specified 49,186,767(-) G/A
NM_004476.3(FOLH1):c.516C>T (p.Gly172=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
VAR_036398 A colorectal cancer sample p.Ala23Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FOLH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FOLH1 Gene

Variant ID Type Subtype PubMed ID
esv2666171 CNV deletion 23128226
esv2744485 CNV deletion 23290073
esv2759824 CNV gain+loss 17122850
esv2759825 CNV gain+loss 17122850
esv3891984 CNV gain 25118596
esv3891986 CNV gain 25118596
esv3891995 CNV gain 25118596
esv3891996 CNV gain 25118596
nsv1044070 CNV loss 25217958
nsv467874 CNV gain 19166990
nsv469956 CNV gain 18288195
nsv518571 CNV gain 19592680
nsv525454 CNV loss 19592680
nsv554223 CNV gain 21841781
nsv554347 CNV gain 21841781
nsv832145 CNV gain 17160897
nsv972015 CNV duplication 23825009
nsv975176 CNV duplication 23825009

Variation tolerance for FOLH1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.81; 86.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOLH1 Gene

Human Gene Mutation Database (HGMD)
FOLH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOLH1
Leiden Open Variation Database (LOVD)
FOLH1

SNP Genotyping and Copy Number Assays for research

Disorders for FOLH1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for FOLH1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, somatic
canavan disease
  • canavan-van bogaert-bertrand disease
bladder lateral wall cancer
  • lateral wall of bladder
prostate disease
  • prostate diseases
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search FOLH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOLH1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FOLH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOLH1 Gene

Publications for FOLH1 Gene

  1. Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. (PMID: 11092759) Devlin AM … Halsted CH (Human molecular genetics 2000) 3 4 22 40
  2. Mapping, genomic organization and promoter analysis of the human prostate-specific membrane antigen gene. (PMID: 9838072) O'Keefe DS … Heston WD (Biochimica et biophysica acta 1998) 2 3 4 22
  3. Reaction mechanism of glutamate carboxypeptidase II revealed by mutagenesis, X-ray crystallography, and computational methods. (PMID: 19301871) Klusák V … Lubkowski J (Biochemistry 2009) 3 4 22
  4. Effect of common polymorphisms in folate uptake and metabolism genes on frequency of micronucleated lymphocytes in a South Australian cohort. (PMID: 19427504) Dhillon V … Fenech M (Mutation research 2009) 3 22 40
  5. Genetic and environmental influences on total plasma homocysteine and coronary artery disease (CAD) risk among South Indians. (PMID: 19394322) Vinukonda G … Rama Devi Akella R (Clinica chimica acta; international journal of clinical chemistry 2009) 3 22 40

ExternalLinks

View latest publications for FOLH1 gene in Mastermind

Products for FOLH1 Gene

  • Addgene plasmids for FOLH1

Sources for FOLH1 Gene