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FOLH1 Gene(Protein Coding)

Folate Hydrolase 1

GCID:
GC11M054944
GIFtS:
53
Genes Participants
UDN Logo

Aliases for FOLH1 Gene

Aliases for FOLH1 Gene

  • Folate Hydrolase 1 2 3 4 5
  • 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 Carboxypeptidase 2 2 3
  • Glutamate Carboxylase II 2 3
  • NAALADase I 3 4
  • NAALAD1 3 4
  • GCPII 3 4
  • FOLH 3 4
  • FGCP 3 4
  • PSMA 3 4
  • MGCP 3 4
  • PSM 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
  • EC 3.4.17.21 4
  • NAALAdase 3
  • GCP2 3

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
  • GC11M050827
  • GC11M051622
  • GC11M052284
  • GC11M052944
  • GC11M053613
  • GC11M054278

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 Canavan Disease and Male Reproductive Organ Cancer. Among its related pathways are Metabolism and Viral mRNA Translation. 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 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 , fRNAdb sequence ontologies and piRNA Summary for FOLH1 Gene

Genomics for FOLH1 Gene

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GeneHancer (GH) Regulatory Elements for FOLH1 Gene

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 1.7 EPDnew Ensembl ENCODE dbSUPER 674.4 +0.6 639 2.5 SP1 TAF1 POLR2A HNF4A REST RAD21 YY1 FOLH1 UBTFL9
GH11J049166 Enhancer 0.6 dbSUPER 36.5 +36.4 36419 10.7 CTCF ZNF654 RAD21 SP1 SMC3 HNF4A NFE2 MAFK FOLH1 GTF2IP11 UBTFL9
GH11J049183 Enhancer 0.5 dbSUPER 25.6 +19.8 19757 11.6 CTCF SOX5 SP1 SOX13 POLR2A CREB1 HNF4A FOLH1 UBTFL9
GH11J049178 Enhancer 0.5 ENCODE 23.9 +30.5 30526 0.2 SMARCE1 CTBP1 CREB1 DPF2 FOLH1 UBTFL9
GH11J049226 Enhancer 0.5 dbSUPER 22 -20.9 -20871 5.2 CTCF ZNF654 ESRRA SMC3 RAD21 FOLH1 LOC440040 LOC729960
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FOLH1 Gene
chr11:49,146,635-49,208,670
(GRCh38/hg38)
Size:
62,036 bases
Orientation:
Minus strand
chr11:49,168,187-49,230,222
(GRCh37/hg19)
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.
    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.
    SequenceCaution:
    • Sequence=AAF31167.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    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

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 Asn638, Asn476, isoforms=10, 6, 7, 8, 9459, Asn336, Asn195, isoforms=6, 7, 8, 9153, isoforms=6, 7, 8, 9140, isoforms=6, 7, 8, 9121, Asn76, and Asn51
  • Modification sites at PhosphoSitePlus

Other Protein References for FOLH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOLH1 Gene

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:
ProtoNet:

Suggested Antigen Peptide Sequences for FOLH1 Gene

GenScript: Design optimal peptide antigens:

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:
Release of an unsubstituted, C-terminal glutamyl residue, typically from Ac-Asp-Glu or folylpoly-gamma-glutamates.
UniProtKB/Swiss-Prot EnzymeRegulation:
The NAALADase activity is inhibited by beta-NAAG, quisqualic acid, 2-(phosphonomethyl) pentanedioic acid (PMPA) and EDTA. Activated by cobalt.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Stable at pH greater than 6.5.;
UniProtKB/Swiss-Prot Induction:
In the prostate, up-regulated in response to androgen deprivation.

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:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity IDA 12949938
GO:0008233 peptidase activity NAS 9375657
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with FOLH1: view
genes like me logo Genes that share phenotypes with FOLH1: view

Animal Model Products

miRNA for FOLH1 Gene

miRTarBase miRNAs that target FOLH1

Clone Products

  • 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
cytoskeleton 2
nucleus 2
cytosol 2
endosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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 TAS,IDA --
GO:0005887 integral component of plasma membrane IEA,TAS --
GO:0009986 cell surface IDA 12949938
GO:0016020 membrane IEA,NAS 9375657
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 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000256999%0d%0a9606.ENSP00000350136%0d%0a9606.ENSP00000263080%0d%0a9606.ENSP00000413064%0d%0a9606.ENSP00000414330%0d%0a9606.ENSP00000359976%0d%0a
Selected Interacting proteins: ENSP00000256999 Q04609-FOLH1_HUMAN for FOLH1 Gene via 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 NAS,IDA 9375657
GO:0006760 folic acid-containing compound metabolic process IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
Docetaxel Approved, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
Capromab pendetide Approved Pharma Target, other/unknown 0
Spaglumic acid Approved Pharma Target, ligand Selective mGlu3 agonist 0

(21) 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
genes like me logo Genes that share compounds with FOLH1: view

Transcripts for FOLH1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FOLH1 Gene

(20) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(89) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOLH1 Gene

Folate hydrolase (prostate-specific membrane antigen) 1:
Representative Sequences:

Clone Products

  • 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
ECgene alternative splicing isoforms for
FOLH1

Expression for FOLH1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of FOLH1 Gene:

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(4.8)
  • Intestine(4.6)
  • Liver(4.5)
  • Lung(4.4)
  • Kidney(2.9)
  • Lymph node(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with FOLH1: view

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 34 33
  • 99.16 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FOLH1 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia FOLH1 34
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Folh1 34
  • 85 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FOLH1 34
  • 79 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FOLH1 34
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FOLH1 34
  • 74 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FOLH1 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.8739 33
zebrafish
(Danio rerio)
 Actinopterygii naalad2 34
  • 66 (a)
 OneToMany
zgc56429 33
worm
(Caenorhabditis elegans)
 Secernentea gcp-2.1 34
  • 32 (a)
 ManyToMany
C35C5.2 35
  • 32 (a)
gcp-2.2 34
  • 29 (a)
 ManyToMany
gcp-2.3 34
  • 28 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS70 34
  • 22 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 44 (a)
 ManyToMany
-- 34
  • 44 (a)
 ManyToMany
-- 34
  • 37 (a)
 ManyToMany
-- 34
  • 37 (a)
 ManyToMany
Species where no ortholog for FOLH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 from dbSNP and Humsavar for FOLH1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
VAR_036398 A colorectal cancer sample p.Ala23Thr
rs79155991 benign, not specified 49,186,767(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000202032 -- 49,170,981(-) T/C intron_variant
rs1000360408 -- 49,177,490(-) A/T intron_variant
rs1000467076 -- 49,183,593(-) A/G intron_variant

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

SNP Genotyping and Copy Number Assay Products

Disorders for FOLH1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for FOLH1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
canavan disease
  • canavan-van bogaert-bertrand disease
male reproductive organ cancer
  • male genital cancer
maxillary sinus adenoid cystic carcinoma
  • adenoid cystic carcinoma of maxillary sinus
villous adenoma
  • adenoma villous
prostate cancer
  • prostate cancer, 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 58
  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 58
  4. 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 44 58
  5. [Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population]. (PMID: 18590621) Martínez-Frías ML … Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) (Medicina clinica 2008) 3 22 44 58

Products for FOLH1 Gene

  • Addgene plasmids for FOLH1

Sources for FOLH1 Gene

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