PPIL1 (peptidylprolyl isomerase like 1) - Rat Genome Database

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Gene: PPIL1 (peptidylprolyl isomerase like 1) Homo sapiens
Analyze
Symbol: PPIL1
Name: peptidylprolyl isomerase like 1
RGD ID: 1319281
HGNC Page HGNC:9260
Description: Enables cyclosporin A binding activity; disordered domain specific binding activity; and peptidyl-prolyl cis-trans isomerase activity. Involved in embryonic brain development and mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 2 spliceosome. Implicated in pontocerebellar hypoplasia type 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CGI-124; cyclophilin like 1; cyclophilin-related gene 1; CYPL1; hCyPX; MGC678; PCH14; peptidyl-prolyl cis-trans isomerase; peptidyl-prolyl cis-trans isomerase-like 1; peptidylprolyl isomerase (cyclophilin)-like 1; PPIase; rotamase PPIL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PPIL1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38636,854,829 - 36,874,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl636,854,827 - 36,874,803 (-)EnsemblGRCh38hg38GRCh38
GRCh37636,822,605 - 36,842,579 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36636,930,583 - 36,950,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 34636,930,585 - 36,950,747NCBI
Celera638,377,637 - 38,397,836 (-)NCBICelera
Cytogenetic Map6p21.2NCBI
HuRef636,540,910 - 36,561,109 (-)NCBIHuRef
CHM1_1636,824,537 - 36,844,718 (-)NCBICHM1_1
T2T-CHM13v2.0636,675,439 - 36,695,414 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Splicing and beyond: the many faces of the Prp19 complex. Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Spliceosomal immunophilins. Mesa A, etal., FEBS Lett. 2008 Jul 9;582(16):2345-51. doi: 10.1016/j.febslet.2008.06.006. Epub 2008 Jun 9.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8978786   PMID:9647638   PMID:10072585   PMID:10810093   PMID:11991638   PMID:12477932   PMID:12975309   PMID:14574404   PMID:15383276   PMID:15489334   PMID:15772761   PMID:16159877  
PMID:16595688   PMID:19738201   PMID:20007319   PMID:20360068   PMID:20368803   PMID:20676357   PMID:21873635   PMID:22365833   PMID:22623428   PMID:23376485   PMID:23443559   PMID:23602568  
PMID:24457600   PMID:24927181   PMID:24999758   PMID:25416956   PMID:26344197   PMID:26496610   PMID:26949251   PMID:27107012   PMID:28076346   PMID:28077445   PMID:28186131   PMID:28302793  
PMID:28514442   PMID:28515276   PMID:29298432   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29773831   PMID:30404004   PMID:30463901   PMID:30572598   PMID:31046837   PMID:31180492  
PMID:31586073   PMID:31950832   PMID:32296183   PMID:32545848   PMID:33220177   PMID:33306668   PMID:33961781   PMID:34079125   PMID:34108663   PMID:34373451   PMID:34709727   PMID:34857952  
PMID:35013218   PMID:35140242   PMID:35182466   PMID:35271311   PMID:35439318   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36232890  
PMID:36244648   PMID:36449624   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
PPIL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38636,854,829 - 36,874,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl636,854,827 - 36,874,803 (-)EnsemblGRCh38hg38GRCh38
GRCh37636,822,605 - 36,842,579 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36636,930,583 - 36,950,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 34636,930,585 - 36,950,747NCBI
Celera638,377,637 - 38,397,836 (-)NCBICelera
Cytogenetic Map6p21.2NCBI
HuRef636,540,910 - 36,561,109 (-)NCBIHuRef
CHM1_1636,824,537 - 36,844,718 (-)NCBICHM1_1
T2T-CHM13v2.0636,675,439 - 36,695,414 (-)NCBIT2T-CHM13v2.0
Ppil1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391729,469,809 - 29,482,945 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1729,469,777 - 29,483,160 (-)EnsemblGRCm39 Ensembl
GRCm381729,250,835 - 29,263,971 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1729,250,803 - 29,264,186 (-)EnsemblGRCm38mm10GRCm38
MGSCv371729,387,780 - 29,400,916 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361728,977,847 - 28,990,983 (-)NCBIMGSCv36mm8
Celera1729,800,905 - 29,814,390 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1715.15NCBI
Ppil1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8207,303,919 - 7,323,962 (-)NCBIGRCr8
mRatBN7.2207,302,292 - 7,322,349 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl207,302,621 - 7,322,354 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx208,013,297 - 8,028,144 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0207,375,155 - 7,390,002 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0207,850,087 - 7,864,954 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0206,515,638 - 6,864,571 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl206,515,638 - 6,864,571 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0209,102,772 - 9,104,606 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0208,760,182 - 8,761,633 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4207,548,896 - 7,565,640 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1207,549,743 - 7,565,928 (-)NCBI
Celera208,852,048 - 8,866,821 (-)NCBICelera
Cytogenetic Map20p12NCBI
Ppil1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554376,131,013 - 6,143,529 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554376,131,013 - 6,143,474 (+)NCBIChiLan1.0ChiLan1.0
PPIL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2551,323,627 - 51,343,867 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1647,193,377 - 47,213,655 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0636,417,086 - 36,437,259 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1637,612,722 - 37,632,942 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl637,612,724 - 37,632,942 (-)Ensemblpanpan1.1panPan2
PPIL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1125,916,524 - 5,936,276 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl125,917,228 - 5,942,943 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha125,935,566 - 5,961,058 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0126,265,629 - 6,291,138 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl126,265,627 - 6,290,391 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1125,920,562 - 5,946,039 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0126,000,037 - 6,025,485 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0126,098,346 - 6,123,792 (-)NCBIUU_Cfam_GSD_1.0
Ppil1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494641,389,370 - 41,407,501 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647622,552,566 - 22,571,001 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647622,552,484 - 22,570,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPIL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl732,522,733 - 32,547,839 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1732,522,736 - 32,547,874 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2737,426,210 - 37,451,342 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPIL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11735,260,471 - 35,281,367 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604436,798,831 - 36,819,128 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppil1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475420,976,515 - 20,985,393 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475420,976,765 - 20,985,408 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPIL1
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016059.5(PPIL1):c.10A>G (p.Ile4Val) single nucleotide variant Inborn genetic diseases [RCV003178926] Chr6:36874763 [GRCh38]
Chr6:36842539 [GRCh37]
Chr6:6p21.2		 uncertain significance
GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3 copy number gain See cases [RCV000139390] Chr6:36858748..37062057 [GRCh38]
Chr6:36826524..37029833 [GRCh37]
Chr6:36934502..37137811 [NCBI36]
Chr6:6p21.2		 likely benign
GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1 copy number loss See cases [RCV000143519] Chr6:36822889..37159699 [GRCh38]
Chr6:36790665..37127475 [GRCh37]
Chr6:36898643..37235453 [NCBI36]
Chr6:6p21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3 copy number gain not provided [RCV000682660] Chr6:34683518..36905281 [GRCh37]
Chr6:6p21.31-21.2		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3 copy number gain not provided [RCV000848155] Chr6:36776798..37106051 [GRCh37]
Chr6:6p21.2		 uncertain significance
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849480]|Pontocerebellar hypoplasia, type 14 [RCV001375915]|not provided [RCV001797159]|not specified [RCV001195417] Chr6:36855935 [GRCh38]
Chr6:36823711 [GRCh37]
Chr6:6p21.2		 pathogenic|likely pathogenic|uncertain significance
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849478]|Neurodevelopmental disorder [RCV001195285]|Pontocerebellar hypoplasia, type 14 [RCV001375914] Chr6:36871796 [GRCh38]
Chr6:36839572 [GRCh37]
Chr6:6p21.2		 pathogenic|likely pathogenic
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) copy number loss Severe intrauterine growth retardation [RCV001291973] Chr6:34401304..38435497 [GRCh37]
Chr6:6p21.31-21.2		 pathogenic
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849509]|Pontocerebellar hypoplasia, type 14 [RCV001375913] Chr6:36855995 [GRCh38]
Chr6:36823771 [GRCh37]
Chr6:6p21.2		 pathogenic|likely pathogenic
NM_016059.5(PPIL1):c.280+1G>A single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849510]|Pontocerebellar hypoplasia, type 14 [RCV001375916]|not provided [RCV001815544] Chr6:36856585 [GRCh38]
Chr6:36824361 [GRCh37]
Chr6:6p21.2		 pathogenic|likely pathogenic
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849508]|Pontocerebellar hypoplasia, type 14 [RCV001375912] Chr6:36856019 [GRCh38]
Chr6:36823795 [GRCh37]
Chr6:6p21.2		 pathogenic|likely pathogenic
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849826] Chr6:36856621 [GRCh38]
Chr6:36824397 [GRCh37]
Chr6:6p21.2		 likely pathogenic
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849823] Chr6:36855922 [GRCh38]
Chr6:36823698 [GRCh37]
Chr6:6p21.2		 likely pathogenic
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) duplication Congenital pontocerebellar hypoplasia [RCV001849824] Chr6:36855995..36855996 [GRCh38]
Chr6:36823771..36823772 [GRCh37]
Chr6:6p21.2		 likely pathogenic
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849825] Chr6:36855989 [GRCh38]
Chr6:36823765 [GRCh37]
Chr6:6p21.2		 likely pathogenic
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) single nucleotide variant Congenital pontocerebellar hypoplasia [RCV001849822] Chr6:36856633 [GRCh38]
Chr6:36824409 [GRCh37]
Chr6:6p21.2		 likely pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup duplication Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] Chr6:30695893..36953949 [GRCh37]
Chr6:6p21.33-21.2		 uncertain significance
NM_016059.5(PPIL1):c.316G>A (p.Asp106Asn) single nucleotide variant Pontocerebellar hypoplasia, type 14 [RCV002275639] Chr6:36855998 [GRCh38]
Chr6:36823774 [GRCh37]
Chr6:6p21.2		 uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup duplication not provided [RCV003154914] Chr6:32148920..36953949 [GRCh37]
Chr6:6p21.32-21.2		 uncertain significance
NM_016059.5(PPIL1):c.350C>A (p.Ala117Asp) single nucleotide variant Pontocerebellar hypoplasia, type 14 [RCV003225007] Chr6:36855964 [GRCh38]
Chr6:36823740 [GRCh37]
Chr6:6p21.2		 uncertain significance
NM_016059.5(PPIL1):c.277A>C (p.Thr93Pro) single nucleotide variant Pontocerebellar hypoplasia, type 14 [RCV003223524] Chr6:36856589 [GRCh38]
Chr6:36824365 [GRCh37]
Chr6:6p21.2		 uncertain significance
NM_016059.5(PPIL1):c.349G>A (p.Ala117Thr) single nucleotide variant Pontocerebellar hypoplasia, type 14 [RCV003225006] Chr6:36855965 [GRCh38]
Chr6:36823741 [GRCh37]
Chr6:6p21.2		 uncertain significance
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1 copy number loss not provided [RCV003485510] Chr6:35562152..42003452 [GRCh37]
Chr6:6p21.31-21.1		 pathogenic
NM_016059.5(PPIL1):c.281-6C>T single nucleotide variant not provided [RCV003431830] Chr6:36856039 [GRCh38]
Chr6:36823815 [GRCh37]
Chr6:6p21.2		 likely benign
NM_016059.5(PPIL1):c.162C>T (p.His54=) single nucleotide variant not provided [RCV003431831] Chr6:36871767 [GRCh38]
Chr6:36839543 [GRCh37]
Chr6:6p21.2		 likely benign
NM_016059.5(PPIL1):c.15C>A (p.Pro5=) single nucleotide variant not provided [RCV003885769] Chr6:36874758 [GRCh38]
Chr6:36842534 [GRCh37]
Chr6:6p21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:434
Count of miRNA genes:360
Interacting mature miRNAs:381
Transcripts:ENST00000373699, ENST00000483552
Prediction methods:Miranda, Rnahybrid
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
HSC1ZG092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,822,609 - 36,822,808UniSTSGRCh37
Build 36636,930,587 - 36,930,786RGDNCBI36
Celera638,377,641 - 38,377,840RGD
Cytogenetic Map6p21.1UniSTS
HuRef636,540,914 - 36,541,113UniSTS
GeneMap99-GB4 RH Map6137.61UniSTS
Whitehead-RH Map6192.8UniSTS
NCBI RH Map6561.5UniSTS
G20659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,822,628 - 36,822,815UniSTSGRCh37
Build 36636,930,606 - 36,930,793RGDNCBI36
Celera638,377,660 - 38,377,847RGD
Cytogenetic Map6p21.1UniSTS
HuRef636,540,933 - 36,541,120UniSTS
A006A37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,822,628 - 36,822,815UniSTSGRCh37
Build 36636,930,606 - 36,930,793RGDNCBI36
Celera638,377,660 - 38,377,847RGD
Cytogenetic Map6p21.1UniSTS
HuRef636,540,933 - 36,541,120UniSTS
GeneMap99-GB4 RH Map6135.97UniSTS
RH122584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,823,316 - 36,823,610UniSTSGRCh37
Build 36636,931,294 - 36,931,588RGDNCBI36
Celera638,378,348 - 38,378,643RGD
Cytogenetic Map6p21.1UniSTS
HuRef636,541,621 - 36,541,916UniSTS
TNG Radiation Hybrid Map619968.0UniSTS
WI-12521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37636,822,655 - 36,822,779UniSTSGRCh37
Build 36636,930,633 - 36,930,757RGDNCBI36
Celera638,377,687 - 38,377,811RGD
Cytogenetic Map6p21.1UniSTS
HuRef636,540,960 - 36,541,084UniSTS
GeneMap99-GB4 RH Map6139.16UniSTS
Whitehead-RH Map6190.5UniSTS
NCBI RH Map6561.5UniSTS


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 1940 1888 1568 469 1073 327 2814 1464 3282 359 1421 1483 155 825 1838 4
Low 497 1087 158 155 862 138 1542 733 452 59 37 130 19 1 379 950 1 2
Below cutoff 16 16 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373699   ⟹   ENSP00000362803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl636,854,829 - 36,874,803 (-)Ensembl
RefSeq Acc Id: ENST00000483552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl636,854,827 - 36,858,635 (-)Ensembl
RefSeq Acc Id: NM_016059   ⟹   NP_057143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38636,854,829 - 36,874,803 (-)NCBI
GRCh37636,822,605 - 36,842,800 (-)RGD
Build 36636,930,583 - 36,950,747 (-)NCBI Archive
Celera638,377,637 - 38,397,836 (-)RGD
HuRef636,540,910 - 36,561,109 (-)RGD
CHM1_1636,824,537 - 36,844,718 (-)NCBI
T2T-CHM13v2.0636,675,439 - 36,695,414 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_057143   ⟸   NM_016059
- UniProtKB: O15001 (UniProtKB/Swiss-Prot),   Q5TDC9 (UniProtKB/Swiss-Prot),   Q9Y3C6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362803   ⟸   ENST00000373699
Protein Domains
PPIase cyclophilin-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y3C6-F1-model_v2 AlphaFold Q9Y3C6 1-166 view protein structure

Promoters
RGD ID:6873042
Promoter ID:EPDNEW_H9686
Type:initiation region
Name:PPIL1_1
Description:peptidylprolyl isomerase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9687  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38636,874,796 - 36,874,856EPDNEW
RGD ID:6873044
Promoter ID:EPDNEW_H9687
Type:initiation region
Name:PPIL1_2
Description:peptidylprolyl isomerase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9686  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38636,875,014 - 36,875,074EPDNEW
RGD ID:6804552
Promoter ID:HG_KWN:53384
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000040382
Position:
Human AssemblyChrPosition (strand)Source
Build 36636,950,451 - 36,950,977 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9260 AgrOrtholog
COSMIC PPIL1 COSMIC
Ensembl Genes ENSG00000137168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373699 ENTREZGENE
  ENST00000373699.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000137168 GTEx
HGNC ID HGNC:9260 ENTREZGENE
Human Proteome Map PPIL1 Human Proteome Map
InterPro Cyclophilin-like_dom_sf UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_CS UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_dom UniProtKB/Swiss-Prot
  Cyclophilin_A-like UniProtKB/Swiss-Prot
KEGG Report hsa:51645 UniProtKB/Swiss-Prot
NCBI Gene 51645 ENTREZGENE
OMIM 601301 OMIM
PANTHER PEPTIDYLPROLYL ISOMERASE DOMAIN AND WD REPEAT-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR45625 UniProtKB/Swiss-Prot
Pfam Pro_isomerase UniProtKB/Swiss-Prot
PharmGKB PA33587 PharmGKB
PIRSF Peptidylpro_ismrse UniProtKB/Swiss-Prot
PRINTS CSAPPISMRASE UniProtKB/Swiss-Prot
PROSITE CSA_PPIASE_1 UniProtKB/Swiss-Prot
  CSA_PPIASE_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50891 UniProtKB/Swiss-Prot
UniProt O15001 ENTREZGENE
  PPIL1_HUMAN UniProtKB/Swiss-Prot
  Q5TDC9 ENTREZGENE
  Q9Y3C6 ENTREZGENE
UniProt Secondary O15001 UniProtKB/Swiss-Prot
  Q5TDC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 PPIL1  peptidylprolyl isomerase like 1  PPIL1  peptidylprolyl isomerase (cyclophilin)-like 1  Symbol and/or name change 5135510 APPROVED