FOLH1

folate hydrolase 1, the group of M28 metallopeptidases

Basic information

Region (hg38): 11:49145092-49208638

Previous symbols: [ "FOLH" ]

Links

ENSG00000086205NCBI:2346OMIM:600934HGNC:3788Uniprot:Q04609AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOLH1 gene.

  • not_specified (59 variants)
  • not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004476.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
1
clinvar
4
missense
53
clinvar
5
clinvar
2
clinvar
60
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 53 8 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FOLH1protein_codingprotein_codingENST00000256999 1962036
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.20e-90.9981256820631257450.000251
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.512953780.7810.00001824878
Missense in Polyphen98155.020.632181960
Synonymous0.1841281310.9790.000006441398
Loss of Function2.842039.20.5100.00000197509

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008580.000842
Ashkenazi Jewish0.0001010.0000992
East Asian0.0003290.000326
Finnish0.00009240.0000924
European (Non-Finnish)0.0001990.000193
Middle Eastern0.0003290.000326
South Asian0.0001670.000163
Other0.0007840.000652

dbNSFP

Source: dbNSFP

Function
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.;
Pathway
Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Vitamin digestion and absorption - Homo sapiens (human);One Carbon Metabolism;Metabolism of amino acids and derivatives;Metabolism;Amino acid synthesis and interconversion (transamination) (Consensus)

Recessive Scores

pRec
0.432

Intolerance Scores

loftool
0.898
rvis_EVS
1.33
rvis_percentile_EVS
94.21

Haploinsufficiency Scores

pHI
0.158
hipred
Y
hipred_score
0.571
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.604

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Folh1
Phenotype
homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process
proteolysis;folic acid-containing compound metabolic process;cellular amino acid biosynthetic process;C-terminal protein deglutamylation
Cellular component
cytoplasm;plasma membrane;integral component of plasma membrane;cell surface;membrane;extracellular exosome
Molecular function
metallocarboxypeptidase activity;peptidase activity;dipeptidase activity;metal ion binding;Ac-Asp-Glu binding;tetrahydrofolyl-poly(glutamate) polymer binding