FOLH1 (folate hydrolase 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2346
Gene name Gene Name - the full gene name approved by the HGNC.
Folate hydrolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOLH1
Synonyms (NCBI Gene) Gene synonyms aliases
FGCP, FOLH, GCP2, GCPII, NAALAD1, PSM, PSMA, mGCP
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.12
Summary Summary of gene provided in NCBI Entrez 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-gl
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT029538 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
AR Unknown 12539223
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(32)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004180 Function Carboxypeptidase activity IBA
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IDA 12949938, 17241121, 24863754
GO:0004181 Function Metallocarboxypeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
600934 3788 ENSG00000086205
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Q04609
Protein name Glutamate carboxypeptidase 2 (EC 3.4.17.21) (Cell growth-inhibiting gene 27 protein) (Folate hydrolase 1) (Folylpoly-gamma-glutamate carboxypeptidase) (FGCP) (Glutamate carboxypeptidase II) (GCPII) (Membrane glutamate carboxypeptidase) (mGCP) (N-acetylate
Protein 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 neurotran
PDB 1Z8L , 2C6C , 2C6G , 2C6P , 2CIJ , 2JBJ , 2JBK , 2OOT , 2OR4 , 2PVV , 2PVW , 2XEF , 2XEG , 2XEI , 2XEJ , 3BHX , 3BI0 , 3BI1 , 3BXM , 3D7D , 3D7F , 3D7G , 3D7H , 3IWW , 3RBU , 3SJE , 3SJF , 3SJG , 3SJX , 4JYW , 4JZ0 , 4LQG , 4MCP , 4MCQ , 4MCR , 4MCS , 4NGM , 4NGN , 4NGP , 4NGQ , 4NGR , 4NGS , 4NGT , 4OC0 , 4OC1 , 4OC2 , 4OC3 , 4OC4 , 4OC5 , 4OME , 4P44
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02225 PA 170 → 261 PA domain Family
PF04389 Peptidase_M28 357 → 564 Peptidase family M28 Family
PF04253 TFR_dimer 627 → 747 Transferrin receptor-like dimerisation domain Domain
Tissue specificity 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 i
Sequence 
MWNLLHETDSAVATARRPRWLCAGALVLAGGFFLLGFLFGWFIKSSNEATNITPKHNMKA
FLDELKAENIKKFLYNFTQIPHLAGTEQNFQLAKQIQSQWKEFGLDSVELAHYDVLLSYP
NKTHPNYISIINEDGNEIFNTSLFEPPPPGYENVSDIVPPFSAFSPQGMPEGDLVYVNYA
RTEDFFKLERDMKINCSGKIVIARYGKVFRGNKVKNAQLAGAKGVILYSDPADYFAPGVK
SYPDGWNLPGGGVQRGNILNLNGAGDPLTPGYPANEYAYRRGIAEAVGLPSIPVHPIGYY
DAQKLLEKMGGSAPPDSSWRGSLKVPYNVGPGFTGNFSTQKVKMHIHSTNEVTRIYNVIG
TLRGAVEPDRYVILGGHRDSWVFGGIDPQSGAAVVHEIVRSFGTLKKEGWRPRRTILFAS
WDAEEFGLLGSTEWAEENSRLLQERGVAYINADSSIEGNYTLRVDCTPLMYSLVHNLTKE
LKSPDEGFEGKSLYESWTKKSPSPEFSGMPRISKLGSGNDFEVFFQRLGIASGRARYTKN
WETNKFSGYPLYHSVYETYELVEKFYDPMFKYHLTVAQVRGGMVFELANSIVLPFDCRDY
AVVLRKYADKIYSISMKHPQEMKTYSVSFDSLFSAVKNFTEIASKFSERLQDFDKSNPIV
LRMMNDQLMFLERAFIDPLGLPDRPFYRHVIYAPSSHNKYAGESFPGIYDALFDIESKVD
PSKAWGEVKRQIYVAAFTVQAAAETLSEVA
Sequence length 750
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (119)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Stimulate 38629815
Acute Kidney Injury Associate 34272322
Adenocarcinoma Associate 15713827, 18802790, 21640619, 21731703, 32808077, 37381796, 38302933, 39236400
Adenocarcinoma Stimulate 32703222
Adenocarcinoma Follicular Associate 28701709
Adenomatous Polyps Associate 26028103
Anemia Associate 34272322, 38452035
Astrocytoma Associate 37247303
Bankart Lesions Associate 30901173
Bipolar Disorder Stimulate 18191545