FOLH1 (folate hydrolase 1) - Rat Genome Database

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Gene: FOLH1 (folate hydrolase 1) Homo sapiens
Analyze
Symbol: FOLH1
Name: folate hydrolase 1
RGD ID: 734060
HGNC Page HGNC:3788
Description: Enables Ac-Asp-Glu binding activity; metallocarboxypeptidase activity; and tetrahydrofolyl-poly(glutamate) polymer binding activity. Involved in proteolysis. Located in cell surface and plasma membrane. Implicated in abdominal aortic aneurysm and cerebral infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell growth-inhibiting gene 27 protein; cell growth-inhibiting protein 27; FGCP; folate hydrolase; folate hydrolase (prostate-specific membrane antigen) 1; FOLH; folylpoly-gamma-glutamate carboxypeptidase; GCP2; GCPII; glutamate carboxylase II; glutamate carboxypeptidase 2; glutamate carboxypeptidase II; membrane glutamate carboxypeptidase; mGCP; N-acetylated alpha-linked acidic dipeptidase 1; N-acetylated-alpha-linked acidic dipeptidase I; NAALAD1; NAALAdase; NAALADase I; prostate specific membrane antigen variant F; prostate-specific membrane antigen; PSM; PSMA; pteroylpoly-gamma-glutamate carboxypeptidase
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381149,145,092 - 49,208,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1149,145,092 - 49,208,638 (-)EnsemblGRCh38hg38GRCh38
GRCh371149,166,644 - 49,230,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,124,763 - 49,186,798 (-)NCBINCBI36Build 36hg18NCBI36
Build 341149,124,763 - 49,186,798NCBI
Celera1149,319,516 - 49,381,546 (-)NCBICelera
Cytogenetic Map11p11.12NCBI
HuRef1148,886,315 - 48,948,370 (-)NCBIHuRef
CHM1_11149,166,592 - 49,228,610 (-)NCBICHM1_1
T2T-CHM13v2.01149,322,228 - 49,385,778 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell surface  (IDA)
cytoplasm  (IEA)
extracellular exosome  (HDA)
membrane  (IEA,NAS,TAS)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
2. Glutamate carboxypeptidase II inhibition protects motor neurons from death in familial amyotrophic lateral sclerosis models. Ghadge GD, etal., Proc Natl Acad Sci U S A 2003 Aug 5;100(16):9554-9. Epub 2003 Jul 22.
3. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
4. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Giusti B, etal., Thromb Haemost. 2010 Aug;104(2):231-42. doi: 10.1160/TH09-11-0748. Epub 2010 May 10.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Isolation and expression of a rat brain cDNA encoding glutamate carboxypeptidase II. Luthi-Carter R, etal., Proc Natl Acad Sci U S A 1998 Mar 17;95(6):3215-20.
7. Prostate-specific membrane antigen: a novel folate hydrolase in human prostatic carcinoma cells. Pinto JT, etal., Clin Cancer Res. 1996 Sep;2(9):1445-51.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Gamma-glutamyl hydrolase and drug resistance. Schneider E and Ryan TJ, Clin Chim Acta. 2006 Dec;374(1-2):25-32. Epub 2006 Jun 10.
Additional References at PubMed
PMID:7511053   PMID:7665226   PMID:7882349   PMID:8417812   PMID:8570628   PMID:8595888   PMID:9187245   PMID:9622670   PMID:9691167   PMID:9694964   PMID:9809977   PMID:9838072  
PMID:9882712   PMID:10085079   PMID:11092759   PMID:11102961   PMID:12042430   PMID:12204797   PMID:12210356   PMID:12474535   PMID:12477932   PMID:12514270   PMID:12707400   PMID:12712410  
PMID:12753319   PMID:12754519   PMID:12850144   PMID:12855225   PMID:12949815   PMID:12949938   PMID:13678295   PMID:14528023   PMID:14571414   PMID:14632302   PMID:14716746   PMID:15122597  
PMID:15141017   PMID:15152093   PMID:15206943   PMID:15321811   PMID:15389976   PMID:15705868   PMID:15713827   PMID:15837926   PMID:15840561   PMID:16221666   PMID:16467855   PMID:16496414  
PMID:16522921   PMID:16713605   PMID:17032155   PMID:17150306   PMID:17160644   PMID:17208363   PMID:17241121   PMID:17342744   PMID:17684227   PMID:17689503   PMID:17714508   PMID:17935484  
PMID:18029348   PMID:18076021   PMID:18234225   PMID:18249021   PMID:18344976   PMID:18349274   PMID:18427977   PMID:18534872   PMID:18590621   PMID:18626508   PMID:18639471   PMID:18823966  
PMID:18839017   PMID:18842806   PMID:18844933   PMID:18974153   PMID:19048631   PMID:19053759   PMID:19060911   PMID:19107881   PMID:19161160   PMID:19172696   PMID:19242540   PMID:19301871  
PMID:19343734   PMID:19394322   PMID:19403271   PMID:19427504   PMID:19678840   PMID:19706844   PMID:19716160   PMID:19776634   PMID:19913121   PMID:19936946   PMID:20047525   PMID:20379614  
PMID:20452657   PMID:20624932   PMID:20628086   PMID:20634891   PMID:20670952   PMID:20852008   PMID:20881960   PMID:21189143   PMID:21597034   PMID:21600799   PMID:21604260   PMID:21606347  
PMID:21640619   PMID:21725290   PMID:21873635   PMID:21988832   PMID:22009216   PMID:22032578   PMID:22124883   PMID:22304713   PMID:22310383   PMID:22322627   PMID:22460809   PMID:22568207  
PMID:23041906   PMID:23259322   PMID:23266799   PMID:23359458   PMID:23467813   PMID:23525278   PMID:23525279   PMID:23533145   PMID:23775497   PMID:23891752   PMID:23979608   PMID:23991415  
PMID:24063417   PMID:24063616   PMID:24130224   PMID:24292502   PMID:24304465   PMID:24424840   PMID:24477651   PMID:24762500   PMID:24764162   PMID:24788382   PMID:24863754   PMID:24939622  
PMID:25916744   PMID:26028103   PMID:26079448   PMID:26125931   PMID:26212031   PMID:26344197   PMID:26438155   PMID:26471812   PMID:26723876   PMID:26739097   PMID:26771706   PMID:26862945  
PMID:26977010   PMID:27070640   PMID:27358992   PMID:27387982   PMID:27609368   PMID:28002805   PMID:28051996   PMID:28351335   PMID:28472168   PMID:28611215   PMID:28701709   PMID:28827104  
PMID:28844117   PMID:29426963   PMID:29448109   PMID:29608845   PMID:29807781   PMID:30021884   PMID:30055186   PMID:30120883   PMID:30844704   PMID:31115751   PMID:31116141   PMID:31140110  
PMID:31654093   PMID:31831560   PMID:31986176   PMID:32184296   PMID:32296183   PMID:32396045   PMID:32483440   PMID:32503460   PMID:32619596   PMID:32703222   PMID:32803984   PMID:32814769  
PMID:32932591   PMID:33256444   PMID:33766124   PMID:33961781   PMID:33963223   PMID:34263529   PMID:34314871   PMID:34331544   PMID:34526506   PMID:34829977   PMID:34974814   PMID:35162969  
PMID:35378003   PMID:35914814   PMID:36305723   PMID:36637862   PMID:36708571   PMID:37147881   PMID:37247303   PMID:38151791  


Genomics

Comparative Map Data
FOLH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381149,145,092 - 49,208,602 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1149,145,092 - 49,208,638 (-)EnsemblGRCh38hg38GRCh38
GRCh371149,166,644 - 49,230,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361149,124,763 - 49,186,798 (-)NCBINCBI36Build 36hg18NCBI36
Build 341149,124,763 - 49,186,798NCBI
Celera1149,319,516 - 49,381,546 (-)NCBICelera
Cytogenetic Map11p11.12NCBI
HuRef1148,886,315 - 48,948,370 (-)NCBIHuRef
CHM1_11149,166,592 - 49,228,610 (-)NCBICHM1_1
T2T-CHM13v2.01149,322,228 - 49,385,778 (-)NCBIT2T-CHM13v2.0
Folh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39786,365,733 - 86,425,171 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl786,368,185 - 86,425,151 (-)EnsemblGRCm39 Ensembl
GRCm38786,716,525 - 86,776,053 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl786,718,977 - 86,775,943 (-)EnsemblGRCm38mm10GRCm38
MGSCv37793,867,486 - 93,924,374 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36786,594,748 - 86,651,592 (-)NCBIMGSCv36mm8
Celera784,090,600 - 84,151,262 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map748.51NCBI
Folh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81149,828,286 - 149,914,313 (-)NCBIGRCr8
mRatBN7.21140,428,101 - 140,501,563 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1140,428,101 - 140,501,379 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1148,335,238 - 148,426,869 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01155,505,880 - 155,597,520 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01148,379,807 - 148,471,432 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01150,323,768 - 150,395,415 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1150,323,768 - 150,395,415 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01156,631,301 - 156,702,948 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41142,936,379 - 143,010,358 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11143,014,784 - 143,088,764 (-)NCBI
Celera1138,771,206 - 138,844,472 (-)NCBICelera
RH 3.4 Map11111.7RGD
Cytogenetic Map1q32NCBI
FOLH1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12110,401,129 - 10,466,162 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2110,203,492 - 10,466,161 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2110,252,624 - 10,317,104 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02110,582,575 - 10,647,371 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2110,581,865 - 10,647,452 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12110,371,141 - 10,435,721 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02110,429,798 - 10,494,435 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02110,486,267 - 10,550,766 (-)NCBIUU_Cfam_GSD_1.0
FOLH1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl922,903,979 - 22,963,472 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1922,903,997 - 22,960,648 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2925,630,162 - 25,687,739 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in FOLH1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001193471.1(FOLH1):c.1513G>A (p.Asp505Asn) single nucleotide variant Malignant melanoma [RCV000069406] Chr11:49156782 [GRCh38]
Chr11:49178334 [GRCh37]
Chr11:49134910 [NCBI36]
Chr11:11p11.12		 not provided
NM_001193471.1(FOLH1):c.458G>A (p.Gly153Glu) single nucleotide variant Malignant melanoma [RCV000069407] Chr11:49192803 [GRCh38]
Chr11:49214355 [GRCh37]
Chr11:49170931 [NCBI36]
Chr11:11p11.12		 not provided
NM_001193471.1(FOLH1):c.358G>A (p.Gly120Arg) single nucleotide variant Malignant melanoma [RCV000069408] Chr11:49200263 [GRCh38]
Chr11:49221815 [GRCh37]
Chr11:49178391 [NCBI36]
Chr11:11p11.12		 not provided
NM_001193471.1(FOLH1):c.916G>A (p.Gly306Arg) single nucleotide variant Malignant melanoma [RCV000062239] Chr11:49175917 [GRCh38]
Chr11:49197469 [GRCh37]
Chr11:49154045 [NCBI36]
Chr11:11p11.12		 not provided
NM_001193471.1(FOLH1):c.367-1145G>A single nucleotide variant Lung cancer [RCV000110099] Chr11:49194039 [GRCh38]
Chr11:49215591 [GRCh37]
Chr11:11p11.12		 uncertain significance
GRCh38/hg38 11p11.12(chr11:48946095-50560016)x1 copy number loss See cases [RCV000141835] Chr11:48946095..50560016 [GRCh38]
Chr11:48967647..50519187 [GRCh37]
Chr11:48924223..50475763 [NCBI36]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.516C>T (p.Gly172=) single nucleotide variant not specified [RCV000203163] Chr11:49186767 [GRCh38]
Chr11:49208319 [GRCh37]
Chr11:11p11.12		 pathogenic|likely pathogenic|benign
GRCh38/hg38 11p11.12(chr11:49057305-49831850)x1 copy number loss See cases [RCV000143606] Chr11:49057305..49831850 [GRCh38]
Chr11:49078857..49853402 [GRCh37]
Chr11:49035433..49809978 [NCBI36]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1648C>G (p.Pro550Ala) single nucleotide variant Inborn genetic diseases [RCV003268594] Chr11:49154468 [GRCh38]
Chr11:49176020 [GRCh37]
Chr11:11p11.12		 uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p11.12(chr11:49150738-50608809)x3 copy number gain See cases [RCV000512131] Chr11:49150738..50608809 [GRCh37]
Chr11:11p11.12		 likely benign
GRCh37/hg19 11p11.2-11.12(chr11:48149532-49434855)x3 copy number gain See cases [RCV000511753] Chr11:48149532..49434855 [GRCh37]
Chr11:11p11.2-11.12		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_004476.3(FOLH1):c.2084G>A (p.Ser695Asn) single nucleotide variant Inborn genetic diseases [RCV003281500] Chr11:49146925 [GRCh38]
Chr11:49168477 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.193T>A (p.Leu65Met) single nucleotide variant Inborn genetic diseases [RCV003281287] Chr11:49206098 [GRCh38]
Chr11:49227650 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.715G>A (p.Val239Met) single nucleotide variant Inborn genetic diseases [RCV003275080] Chr11:49185780 [GRCh38]
Chr11:49207332 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1201A>G (p.Ser401Gly) single nucleotide variant Inborn genetic diseases [RCV003287797] Chr11:49173381 [GRCh38]
Chr11:49194933 [GRCh37]
Chr11:11p11.12		 uncertain significance
GRCh37/hg19 11p11.2-11.12(chr11:48116066-49170890)x3 copy number gain not provided [RCV000683353] Chr11:48116066..49170890 [GRCh37]
Chr11:11p11.2-11.12		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p11.2-11.12(chr11:48328562-51591253)x3 copy number gain not provided [RCV000737515] Chr11:48328562..51591253 [GRCh37]
Chr11:11p11.2-11.12		 benign
GRCh37/hg19 11p11.2-11.12(chr11:48331739-51581408)x3 copy number gain not provided [RCV000737516] Chr11:48331739..51581408 [GRCh37]
Chr11:11p11.2-11.12		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p11.2-11.12(chr11:48375604-50345390)x3 copy number gain not provided [RCV000750039] Chr11:48375604..50345390 [GRCh37]
Chr11:11p11.2-11.12		 benign
GRCh37/hg19 11p11.2-11.12(chr11:48735614-50517487)x3 copy number gain not provided [RCV000750041] Chr11:48735614..50517487 [GRCh37]
Chr11:11p11.2-11.12		 benign
GRCh37/hg19 11p11.2-11.12(chr11:48748775-51593877)x3 copy number gain not provided [RCV000750042] Chr11:48748775..51593877 [GRCh37]
Chr11:11p11.2-11.12		 benign
GRCh37/hg19 11p11.12(chr11:48825740-50477559)x3 copy number gain not provided [RCV000750043] Chr11:48825740..50477559 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:48901075-50297005)x3 copy number gain not provided [RCV000750044] Chr11:48901075..50297005 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:48901075-50477559)x3 copy number gain not provided [RCV000750045] Chr11:48901075..50477559 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:48901075-50487842)x3 copy number gain not provided [RCV000750046] Chr11:48901075..50487842 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:48901075-50517487)x3 copy number gain not provided [RCV000750047] Chr11:48901075..50517487 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:49013685-50278170)x3 copy number gain not provided [RCV000750048] Chr11:49013685..50278170 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:49013685-50382437)x3 copy number gain not provided [RCV000750049] Chr11:49013685..50382437 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.12(chr11:49120746-49704930)x3 copy number gain not provided [RCV000750050] Chr11:49120746..49704930 [GRCh37]
Chr11:11p11.12		 benign
NM_004476.3(FOLH1):c.1870A>T (p.Thr624Ser) single nucleotide variant Inborn genetic diseases [RCV003268595] Chr11:49154246 [GRCh38]
Chr11:49175798 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.478C>G (p.Pro160Ala) single nucleotide variant not provided [RCV000969859] Chr11:49192828 [GRCh38]
Chr11:49214380 [GRCh37]
Chr11:11p11.12		 benign
NM_004476.3(FOLH1):c.464C>T (p.Ser155Leu) single nucleotide variant not provided [RCV000972486] Chr11:49192842 [GRCh38]
Chr11:49214394 [GRCh37]
Chr11:11p11.12		 benign
NM_004476.3(FOLH1):c.732T>C (p.Asp244=) single nucleotide variant not provided [RCV000947346] Chr11:49185763 [GRCh38]
Chr11:49207315 [GRCh37]
Chr11:11p11.12		 likely benign
NM_004476.3(FOLH1):c.1858C>A (p.Gln620Lys) single nucleotide variant Inborn genetic diseases [RCV003270435] Chr11:49154258 [GRCh38]
Chr11:49175810 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.469A>G (p.Ile157Val) single nucleotide variant Inborn genetic diseases [RCV003273610] Chr11:49192837 [GRCh38]
Chr11:49214389 [GRCh37]
Chr11:11p11.12		 likely benign
NM_004476.3(FOLH1):c.898T>A (p.Tyr300Asn) single nucleotide variant Inborn genetic diseases [RCV003291703] Chr11:49183171 [GRCh38]
Chr11:49204723 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.35T>C (p.Val12Ala) single nucleotide variant Inborn genetic diseases [RCV003292064] Chr11:49208375 [GRCh38]
Chr11:49229927 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.223T>C (p.Tyr75His) single nucleotide variant not provided [RCV001708736] Chr11:49206068 [GRCh38]
Chr11:49227620 [GRCh37]
Chr11:11p11.12		 benign
GRCh37/hg19 11p11.2-11.12(chr11:48242702-49562051)x3 copy number gain not provided [RCV001259095] Chr11:48242702..49562051 [GRCh37]
Chr11:11p11.2-11.12		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_004476.3(FOLH1):c.88G>A (p.Gly30Ser) single nucleotide variant Inborn genetic diseases [RCV002731792] Chr11:49208322 [GRCh38]
Chr11:49229874 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1438G>C (p.Glu480Gln) single nucleotide variant Inborn genetic diseases [RCV002840247] Chr11:49164707 [GRCh38]
Chr11:49186259 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.841C>A (p.Arg281Ser) single nucleotide variant Inborn genetic diseases [RCV002683948] Chr11:49183228 [GRCh38]
Chr11:49204780 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1607G>A (p.Arg536Gln) single nucleotide variant Inborn genetic diseases [RCV002660007] Chr11:49156733 [GRCh38]
Chr11:49178285 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1339G>A (p.Val447Met) single nucleotide variant Inborn genetic diseases [RCV002977142] Chr11:49169228 [GRCh38]
Chr11:49190780 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.2053C>A (p.Pro685Thr) single nucleotide variant Inborn genetic diseases [RCV002830500] Chr11:49148649 [GRCh38]
Chr11:49170201 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.938C>T (p.Ala313Val) single nucleotide variant Inborn genetic diseases [RCV002832050] Chr11:49175940 [GRCh38]
Chr11:49197492 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1469G>A (p.Gly490Asp) single nucleotide variant Inborn genetic diseases [RCV002718969] Chr11:49158015 [GRCh38]
Chr11:49179567 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1458A>T (p.Glu486Asp) single nucleotide variant Inborn genetic diseases [RCV002769160] Chr11:49158026 [GRCh38]
Chr11:49179578 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.419A>G (p.Asn140Ser) single nucleotide variant Inborn genetic diseases [RCV002656711] Chr11:49192887 [GRCh38]
Chr11:49214439 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.2107G>A (p.Glu703Lys) single nucleotide variant Inborn genetic diseases [RCV003216067] Chr11:49146902 [GRCh38]
Chr11:49168454 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.1675T>A (p.Tyr559Asn) single nucleotide variant Inborn genetic diseases [RCV003342649] Chr11:49154441 [GRCh38]
Chr11:49175993 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.764G>A (p.Arg255His) single nucleotide variant Inborn genetic diseases [RCV003347969] Chr11:49185731 [GRCh38]
Chr11:49207283 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.802C>T (p.Leu268Phe) single nucleotide variant not provided [RCV003395791] Chr11:49185693 [GRCh38]
Chr11:49207245 [GRCh37]
Chr11:11p11.12		 likely benign
NM_004476.3(FOLH1):c.1715A>G (p.Tyr572Cys) single nucleotide variant Inborn genetic diseases [RCV003385405] Chr11:49154401 [GRCh38]
Chr11:49175953 [GRCh37]
Chr11:11p11.12		 uncertain significance
NM_004476.3(FOLH1):c.537T>C (p.Tyr179=) single nucleotide variant not provided [RCV003390053] Chr11:49186746 [GRCh38]
Chr11:49208298 [GRCh37]
Chr11:11p11.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1532
Count of miRNA genes:820
Interacting mature miRNAs:946
Transcripts:ENST00000256999, ENST00000340334, ENST00000343844, ENST00000356696, ENST00000458311, ENST00000525629, ENST00000525826, ENST00000526226, ENST00000529117, ENST00000529646, ENST00000529648, ENST00000532018, ENST00000533034, ENST00000533510
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH76660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,168,243 - 49,168,448UniSTSGRCh37
Build 361149,124,819 - 49,125,024RGDNCBI36
Celera1149,319,572 - 49,319,777RGD
Cytogenetic Map11p11.2UniSTS
HuRef1148,886,371 - 48,886,576UniSTS
RH69652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,168,265 - 49,168,406UniSTSGRCh37
GRCh371189,431,669 - 89,431,810UniSTSGRCh37
Build 361149,124,841 - 49,124,982RGDNCBI36
Celera1149,319,594 - 49,319,735RGD
Celera1185,199,592 - 85,199,733UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map11q14.3UniSTS
HuRef1148,886,393 - 48,886,534UniSTS
HuRef1185,668,810 - 85,668,951UniSTS
RH71396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,168,320 - 49,168,456UniSTSGRCh37
GRCh371189,431,619 - 89,431,755UniSTSGRCh37
Build 361149,124,896 - 49,125,032RGDNCBI36
Celera1149,319,649 - 49,319,785RGD
Celera1185,199,647 - 85,199,783UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map11q14.3UniSTS
HuRef1148,886,448 - 48,886,584UniSTS
HuRef1185,668,760 - 85,668,896UniSTS
SHGC-81785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371149,229,847 - 49,230,076UniSTSGRCh37
Build 361149,186,423 - 49,186,652RGDNCBI36
Celera1149,381,171 - 49,381,400RGD
Cytogenetic Map11p11.2UniSTS
HuRef1148,947,995 - 48,948,224UniSTS
TNG Radiation Hybrid Map1140871.0UniSTS
D11S3521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371189,376,428 - 89,376,544UniSTSGRCh37
Build 361189,016,076 - 89,016,192RGDNCBI36
Cytogenetic Map11p11.2UniSTS
HuRef1148,941,776 - 48,941,892UniSTS
FOLH1_8354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371189,431,577 - 89,432,086UniSTSGRCh37
GRCh371149,167,987 - 49,168,498UniSTSGRCh37
Build 361149,124,563 - 49,125,074RGDNCBI36
Celera1185,199,316 - 85,199,825UniSTS
Celera1149,319,316 - 49,319,827RGD
HuRef1185,668,718 - 85,669,227UniSTS
HuRef1148,886,115 - 48,886,626UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 18 1 109 211 4 110 253 1 1234 94 268 18 100 2 235 1
Low 1335 871 959 387 435 333 2050 621 2136 239 891 1227 57 1 664 1308 1 1
Below cutoff 974 1614 617 13 473 5 1668 1298 278 45 236 222 11 518 1028 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC110742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY101595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY324625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA432757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS484648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS487206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS487327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ088979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF488811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF488812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA362574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M99487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256999   ⟹   ENSP00000256999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,145,092 - 49,208,602 (-)Ensembl
RefSeq Acc Id: ENST00000340334   ⟹   ENSP00000344131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,146,636 - 49,208,636 (-)Ensembl
RefSeq Acc Id: ENST00000356696   ⟹   ENSP00000349129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,146,636 - 49,208,532 (-)Ensembl
RefSeq Acc Id: ENST00000458311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,146,635 - 49,186,096 (-)Ensembl
RefSeq Acc Id: ENST00000525629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,162,803 - 49,175,960 (-)Ensembl
RefSeq Acc Id: ENST00000525826   ⟹   ENSP00000434928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,146,636 - 49,208,602 (-)Ensembl
RefSeq Acc Id: ENST00000526226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,185,594 - 49,186,768 (-)Ensembl
RefSeq Acc Id: ENST00000529117   ⟹   ENSP00000431577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,200,301 - 49,208,160 (-)Ensembl
RefSeq Acc Id: ENST00000529646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,192,754 - 49,208,327 (-)Ensembl
RefSeq Acc Id: ENST00000529648   ⟹   ENSP00000431263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,200,373 - 49,208,638 (-)Ensembl
RefSeq Acc Id: ENST00000532018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,154,032 - 49,156,753 (-)Ensembl
RefSeq Acc Id: ENST00000533034   ⟹   ENSP00000431463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,146,751 - 49,208,372 (-)Ensembl
RefSeq Acc Id: ENST00000533510   ⟹   ENSP00000436569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,192,792 - 49,208,593 (-)Ensembl
RefSeq Acc Id: NM_001014986   ⟹   NP_001014986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
GRCh371149,168,187 - 49,230,222 (-)ENTREZGENE
Build 361149,124,763 - 49,186,798 (-)NCBI Archive
HuRef1148,886,315 - 48,948,370 (-)ENTREZGENE
CHM1_11149,166,592 - 49,228,610 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193471   ⟹   NP_001180400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
GRCh371149,168,187 - 49,230,222 (-)ENTREZGENE
HuRef1148,886,315 - 48,948,370 (-)ENTREZGENE
CHM1_11149,166,592 - 49,228,610 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193472   ⟹   NP_001180401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
GRCh371149,168,187 - 49,230,222 (-)ENTREZGENE
HuRef1148,886,315 - 48,948,370 (-)ENTREZGENE
CHM1_11149,166,592 - 49,228,610 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193473   ⟹   NP_001180402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
GRCh371149,168,187 - 49,230,222 (-)NCBI
HuRef1148,886,315 - 48,948,370 (-)ENTREZGENE
CHM1_11149,166,592 - 49,228,610 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351236   ⟹   NP_001338165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004476   ⟹   NP_004467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
GRCh371149,168,187 - 49,230,222 (-)ENTREZGENE
Build 361149,124,763 - 49,186,798 (-)NCBI Archive
HuRef1148,886,315 - 48,948,370 (-)ENTREZGENE
CHM1_11149,166,592 - 49,228,610 (-)NCBI
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519958   ⟹   XP_011518260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,156,713 - 49,208,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017432   ⟹   XP_016872921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017433   ⟹   XP_016872922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017434   ⟹   XP_016872923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426678   ⟹   XP_047282634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
RefSeq Acc Id: XM_047426679   ⟹   XP_047282635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
RefSeq Acc Id: XM_047426680   ⟹   XP_047282636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,397 (-)NCBI
RefSeq Acc Id: XM_047426681   ⟹   XP_047282637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
RefSeq Acc Id: XM_047426682   ⟹   XP_047282638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,145,092 - 49,208,602 (-)NCBI
RefSeq Acc Id: XM_054368240   ⟹   XP_054224215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,777 (-)NCBI
RefSeq Acc Id: XM_054368241   ⟹   XP_054224216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,777 (-)NCBI
RefSeq Acc Id: XM_054368242   ⟹   XP_054224217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
RefSeq Acc Id: XM_054368243   ⟹   XP_054224218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
RefSeq Acc Id: XM_054368244   ⟹   XP_054224219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
RefSeq Acc Id: XM_054368245   ⟹   XP_054224220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
RefSeq Acc Id: XM_054368246   ⟹   XP_054224221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,322,228 - 49,385,740 (-)NCBI
RefSeq Acc Id: XM_054368247   ⟹   XP_054224222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,333,830 - 49,385,778 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001014986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180400 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180401 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180402 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338165 (Get FASTA)   NCBI Sequence Viewer  
  NP_004467 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518260 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872921 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872922 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872923 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282634 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282636 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282637 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224215 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224222 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60209 (Get FASTA)   NCBI Sequence Viewer  
  AAB33750 (Get FASTA)   NCBI Sequence Viewer  
  AAC83972 (Get FASTA)   NCBI Sequence Viewer  
  AAD51121 (Get FASTA)   NCBI Sequence Viewer  
  AAF31167 (Get FASTA)   NCBI Sequence Viewer  
  AAF71357 (Get FASTA)   NCBI Sequence Viewer  
  AAF71358 (Get FASTA)   NCBI Sequence Viewer  
  AAH25672 (Get FASTA)   NCBI Sequence Viewer  
  AAI08720 (Get FASTA)   NCBI Sequence Viewer  
  AAM34479 (Get FASTA)   NCBI Sequence Viewer  
  AAP86290 (Get FASTA)   NCBI Sequence Viewer  
  AAZ66619 (Get FASTA)   NCBI Sequence Viewer  
  ABO93402 (Get FASTA)   NCBI Sequence Viewer  
  ABO93403 (Get FASTA)   NCBI Sequence Viewer  
  BAG35284 (Get FASTA)   NCBI Sequence Viewer  
  BAH12048 (Get FASTA)   NCBI Sequence Viewer  
  BAH12079 (Get FASTA)   NCBI Sequence Viewer  
  BAH13299 (Get FASTA)   NCBI Sequence Viewer  
  CAM36419 (Get FASTA)   NCBI Sequence Viewer  
  CAM55906 (Get FASTA)   NCBI Sequence Viewer  
  CAM55926 (Get FASTA)   NCBI Sequence Viewer  
  CCA94569 (Get FASTA)   NCBI Sequence Viewer  
  EAW67857 (Get FASTA)   NCBI Sequence Viewer  
  EAW67858 (Get FASTA)   NCBI Sequence Viewer  
  EAW67859 (Get FASTA)   NCBI Sequence Viewer  
  EAW67860 (Get FASTA)   NCBI Sequence Viewer  
  EAW67861 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000256999
  ENSP00000256999.2
  ENSP00000344131
  ENSP00000344131.7
  ENSP00000349129
  ENSP00000349129.3
  ENSP00000431263.1
  ENSP00000431463
  ENSP00000431463.1
  ENSP00000431577.1
  ENSP00000434928.1
  ENSP00000436569.1
GenBank Protein Q04609 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001180402   ⟸   NM_001193473
- Peptide Label: isoform 5
- UniProtKB: Q9HBA9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001014986   ⟸   NM_001014986
- Peptide Label: isoform 2
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004467   ⟸   NM_004476
- Peptide Label: isoform 1
- UniProtKB: Q9NYE2 (UniProtKB/Swiss-Prot),   Q9NP15 (UniProtKB/Swiss-Prot),   Q8TAY3 (UniProtKB/Swiss-Prot),   Q541A4 (UniProtKB/Swiss-Prot),   Q16305 (UniProtKB/Swiss-Prot),   O43748 (UniProtKB/Swiss-Prot),   E9PDX8 (UniProtKB/Swiss-Prot),   D3DQS5 (UniProtKB/Swiss-Prot),   B7Z343 (UniProtKB/Swiss-Prot),   B7Z312 (UniProtKB/Swiss-Prot),   A9CB79 (UniProtKB/Swiss-Prot),   A4UU12 (UniProtKB/Swiss-Prot),   Q9P1P8 (UniProtKB/Swiss-Prot),   Q04609 (UniProtKB/Swiss-Prot),   A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180401   ⟸   NM_001193472
- Peptide Label: isoform 4
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180400   ⟸   NM_001193471
- Peptide Label: isoform 3
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518260   ⟸   XM_011519958
- Peptide Label: isoform X6
- UniProtKB: B7Z6L3 (UniProtKB/TrEMBL),   E9PG45 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872921   ⟸   XM_017017432
- Peptide Label: isoform X1
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872923   ⟸   XM_017017434
- Peptide Label: isoform X3
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872922   ⟸   XM_017017433
- Peptide Label: isoform X2
- UniProtKB: A4UU13 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001338165   ⟸   NM_001351236
- Peptide Label: isoform 6
- UniProtKB: Q2VPJ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000256999   ⟸   ENST00000256999
RefSeq Acc Id: ENSP00000431463   ⟸   ENST00000533034
RefSeq Acc Id: ENSP00000436569   ⟸   ENST00000533510
RefSeq Acc Id: ENSP00000434928   ⟸   ENST00000525826
RefSeq Acc Id: ENSP00000344131   ⟸   ENST00000340334
RefSeq Acc Id: ENSP00000349129   ⟸   ENST00000356696
RefSeq Acc Id: ENSP00000431263   ⟸   ENST00000529648
RefSeq Acc Id: ENSP00000431577   ⟸   ENST00000529117
RefSeq Acc Id: XP_047282637   ⟸   XM_047426681
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047282634   ⟸   XM_047426678
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047282638   ⟸   XM_047426682
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047282635   ⟸   XM_047426679
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047282636   ⟸   XM_047426680
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224216   ⟸   XM_054368241
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224215   ⟸   XM_054368240
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224220   ⟸   XM_054368245
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224218   ⟸   XM_054368243
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224217   ⟸   XM_054368242
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224221   ⟸   XM_054368246
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224219   ⟸   XM_054368244
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224222   ⟸   XM_054368247
- Peptide Label: isoform X6
Protein Domains
PA   Peptidase M28   Transferrin receptor-like dimerisation

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04609-F1-model_v2 AlphaFold Q04609 1-750 view protein structure

Promoters
RGD ID:7220291
Promoter ID:EPDNEW_H15891
Type:initiation region
Name:FOLH1_1
Description:folate hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15892  EPDNEW_H15893  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,208,360 - 49,208,420EPDNEW
RGD ID:7220293
Promoter ID:EPDNEW_H15892
Type:initiation region
Name:FOLH1_3
Description:folate hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15891  EPDNEW_H15893  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,208,464 - 49,208,524EPDNEW
RGD ID:7220295
Promoter ID:EPDNEW_H15893
Type:initiation region
Name:FOLH1_2
Description:folate hydrolase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15891  EPDNEW_H15892  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,208,602 - 49,208,662EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3788 AgrOrtholog
COSMIC FOLH1 COSMIC
Ensembl Genes ENSG00000086205 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256999 ENTREZGENE
  ENST00000256999.7 UniProtKB/Swiss-Prot
  ENST00000340334 ENTREZGENE
  ENST00000340334.11 UniProtKB/Swiss-Prot
  ENST00000356696 ENTREZGENE
  ENST00000356696.7 UniProtKB/Swiss-Prot
  ENST00000525826.5 UniProtKB/TrEMBL
  ENST00000529117.1 UniProtKB/TrEMBL
  ENST00000529648.1 UniProtKB/TrEMBL
  ENST00000533034 ENTREZGENE
  ENST00000533034.1 UniProtKB/Swiss-Prot
  ENST00000533510.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.930.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.30.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000086205 GTEx
HGNC ID HGNC:3788 ENTREZGENE
Human Proteome Map FOLH1 Human Proteome Map
InterPro PA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M28B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR-like_dimer_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR-like_dimer_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2346 UniProtKB/Swiss-Prot
NCBI Gene 2346 ENTREZGENE
OMIM 600934 OMIM
PANTHER GLUTAMATE CARBOXYPEPTIDASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10404 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF02225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28205 PharmGKB
Superfamily-SCOP PA domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47672 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4UU12 ENTREZGENE
  A4UU13 ENTREZGENE, UniProtKB/TrEMBL
  A9CB79 ENTREZGENE
  B7Z312 ENTREZGENE
  B7Z343 ENTREZGENE
  B7Z6L3 ENTREZGENE, UniProtKB/TrEMBL
  D3DQS5 ENTREZGENE
  E9PDX8 ENTREZGENE
  E9PG45 ENTREZGENE
  E9PI29_HUMAN UniProtKB/TrEMBL
  E9PKM3_HUMAN UniProtKB/TrEMBL
  E9PLV0_HUMAN UniProtKB/TrEMBL
  E9PMK6_HUMAN UniProtKB/TrEMBL
  FOLH1_HUMAN UniProtKB/Swiss-Prot
  O43748 ENTREZGENE
  Q04609 ENTREZGENE
  Q16305 ENTREZGENE
  Q2VPJ0 ENTREZGENE, UniProtKB/TrEMBL
  Q541A4 ENTREZGENE
  Q8TAY3 ENTREZGENE
  Q9HBA9 ENTREZGENE
  Q9NP15 ENTREZGENE
  Q9NYE2 ENTREZGENE
  Q9P1P8 ENTREZGENE
UniProt Secondary A4UU12 UniProtKB/Swiss-Prot
  A9CB79 UniProtKB/Swiss-Prot
  B7Z312 UniProtKB/Swiss-Prot
  B7Z343 UniProtKB/Swiss-Prot
  D3DQS5 UniProtKB/Swiss-Prot
  E9PDX8 UniProtKB/Swiss-Prot
  E9PG45 UniProtKB/TrEMBL
  O43748 UniProtKB/Swiss-Prot
  Q16305 UniProtKB/Swiss-Prot
  Q541A4 UniProtKB/Swiss-Prot
  Q8TAY3 UniProtKB/Swiss-Prot
  Q9NP15 UniProtKB/Swiss-Prot
  Q9NYE2 UniProtKB/Swiss-Prot
  Q9P1P8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-23 FOLH1  folate hydrolase 1    folate hydrolase (prostate-specific membrane antigen) 1  Symbol and/or name change 5135510 APPROVED