XPNPEP1 (X-prolyl aminopeptidase 1) - Rat Genome Database

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Gene: XPNPEP1 (X-prolyl aminopeptidase 1) Homo sapiens
Analyze
Symbol: XPNPEP1
Name: X-prolyl aminopeptidase 1
RGD ID: 733430
HGNC Page HGNC:12822
Description: Enables manganese ion binding activity; metalloaminopeptidase activity; and protein homodimerization activity. Involved in bradykinin catabolic process; negative regulation of programmed cell death; and proteolysis. Located in extracellular exosome. Is active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aminoacylproline aminopeptidase; aminopeptidase P, cytosolic; APP1; cytosolic aminopeptidase P; SAMP; soluble aminopeptidase P; X-Pro aminopeptidase 1; X-prolyl aminopeptidase (aminopeptidase P) 1, soluble; X-prolyl aminopeptidase (aminopeptidase P)-like; X-prolyl aminopeptidase 1, soluble; xaa-Pro aminopeptidase 1; XPNPEP; XPNPEPL; XPNPEPL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810109,864,766 - 109,923,511 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10109,864,766 - 109,923,553 (-)EnsemblGRCh38hg38GRCh38
GRCh3710111,624,524 - 111,683,269 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610111,614,514 - 111,673,192 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410111,614,513 - 111,673,192NCBI
Celera10105,356,208 - 105,414,975 (-)NCBICelera
Cytogenetic Map10q25.1NCBI
HuRef10105,255,598 - 105,314,375 (-)NCBIHuRef
CHM1_110111,906,232 - 111,965,041 (-)NCBICHM1_1
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)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
cytoplasm  (IEA,ISS)
cytosol  (IDA,IEA)
extracellular exosome  (HDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The kallikrein-kinin system: current and future pharmacological targets. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1510698   PMID:3141711   PMID:8125298   PMID:9465902   PMID:10871044   PMID:11106490   PMID:12477932   PMID:12665801   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16169070  
PMID:16344560   PMID:16385451   PMID:17043677   PMID:18029348   PMID:18515364   PMID:19126663   PMID:20379614   PMID:20460270   PMID:21052031   PMID:21873635   PMID:21900206   PMID:22658674  
PMID:22863883   PMID:22939629   PMID:23314748   PMID:23376485   PMID:23533145   PMID:23824909   PMID:25921289   PMID:26186194   PMID:26344197   PMID:27432908   PMID:28514442   PMID:29117863  
PMID:29351301   PMID:29791485   PMID:30575818   PMID:32176739   PMID:32235678   PMID:32296183   PMID:32344865   PMID:32687490   PMID:32707033   PMID:32786267   PMID:33961781   PMID:34349018  
PMID:35165443   PMID:35509820   PMID:35831314   PMID:36114006   PMID:36215168   PMID:37071682   PMID:37827155   PMID:38496616  


Genomics

Comparative Map Data
XPNPEP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810109,864,766 - 109,923,511 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10109,864,766 - 109,923,553 (-)EnsemblGRCh38hg38GRCh38
GRCh3710111,624,524 - 111,683,269 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610111,614,514 - 111,673,192 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410111,614,513 - 111,673,192NCBI
Celera10105,356,208 - 105,414,975 (-)NCBICelera
Cytogenetic Map10q25.1NCBI
HuRef10105,255,598 - 105,314,375 (-)NCBIHuRef
CHM1_110111,906,232 - 111,965,041 (-)NCBICHM1_1
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBIT2T-CHM13v2.0
Xpnpep1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391952,919,710 - 53,027,093 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1952,920,357 - 53,028,645 (-)EnsemblGRCm39 Ensembl
GRCm381952,931,279 - 53,038,662 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1952,931,926 - 53,040,214 (-)EnsemblGRCm38mm10GRCm38
MGSCv371953,065,673 - 53,113,032 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361953,044,495 - 53,091,854 (-)NCBIMGSCv36mm8
Celera1955,173,619 - 55,221,048 (-)NCBICelera
Cytogenetic Map19D2NCBI
cM Map1946.91NCBI
Xpnpep1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81262,006,761 - 262,057,479 (-)NCBIGRCr8
mRatBN7.21252,001,366 - 252,052,077 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1252,001,367 - 252,051,479 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1260,189,774 - 260,239,893 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01266,895,833 - 266,945,952 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01259,547,854 - 259,598,654 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01273,708,217 - 273,758,247 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1273,708,212 - 273,758,442 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01281,121,567 - 281,171,473 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41259,089,652 - 259,139,681 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11259,355,566 - 259,405,597 (-)NCBI
Celera1247,726,460 - 247,776,301 (-)NCBICelera
Cytogenetic Map1q55NCBI
Xpnpep1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554851,436,834 - 1,501,463 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554851,436,834 - 1,501,408 (+)NCBIChiLan1.0ChiLan1.0
XPNPEP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28121,743,866 - 121,802,631 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110121,749,204 - 121,807,967 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010106,457,390 - 106,516,111 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110109,908,285 - 109,967,100 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10109,908,285 - 109,967,094 (-)Ensemblpanpan1.1panPan2
XPNPEP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12821,267,588 - 21,322,044 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2821,246,467 - 21,321,953 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2821,410,929 - 21,465,285 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02821,782,248 - 21,836,736 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2821,760,215 - 21,836,755 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12821,343,307 - 21,397,639 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02821,342,664 - 21,397,127 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02821,482,813 - 21,537,258 (-)NCBIUU_Cfam_GSD_1.0
Xpnpep1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721324,708,158 - 24,759,708 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936486801,328 - 853,147 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936486801,563 - 853,107 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XPNPEP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14120,315,910 - 120,367,780 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114120,316,578 - 120,367,995 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214131,108,925 - 131,204,866 (-)NCBISscrofa10.2Sscrofa10.2susScr3
XPNPEP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19102,792,424 - 102,840,479 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9102,782,895 - 102,784,895 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
ChlSab1.1 Ensembl9102,782,895 - 102,784,895 (-)NCBIChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604863,982,600 - 64,043,409 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Xpnpep1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473736,343,159 - 36,402,940 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in XPNPEP1
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
NM_001167604.1(XPNPEP1):c.562C>T (p.Pro188Ser) single nucleotide variant Malignant melanoma [RCV000068797] Chr10:109888139 [GRCh38]
Chr10:111647897 [GRCh37]
Chr10:111637887 [NCBI36]
Chr10:10q25.1
not provided
NM_001167604.1(XPNPEP1):c.32+1689A>G single nucleotide variant Lung cancer [RCV000108640] Chr10:109921713 [GRCh38]
Chr10:111681471 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_001167604.1(XPNPEP1):c.32+906C>T single nucleotide variant Lung cancer [RCV000108641] Chr10:109922496 [GRCh38]
Chr10:111682254 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q25.1-25.2(chr10:109544286-110311875)x3 copy number gain See cases [RCV000135417] Chr10:109544286..110311875 [GRCh38]
Chr10:111304044..112071633 [GRCh37]
Chr10:111294034..112061623 [NCBI36]
Chr10:10q25.1-25.2
uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_020383.4(XPNPEP1):c.1501G>A (p.Val501Ile) single nucleotide variant not specified [RCV004302330] Chr10:109871813 [GRCh38]
Chr10:111631571 [GRCh37]
Chr10:10q25.1
likely benign
NM_020383.4(XPNPEP1):c.235G>C (p.Asp79His) single nucleotide variant not specified [RCV004311847] Chr10:109907702 [GRCh38]
Chr10:111667460 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_020383.4(XPNPEP1):c.1735A>G (p.Ile579Val) single nucleotide variant not specified [RCV004287907] Chr10:109869991 [GRCh38]
Chr10:111629749 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q25.1(chr10:108777825-111742179)x1 copy number loss not provided [RCV000683273] Chr10:108777825..111742179 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1 copy number loss not provided [RCV001827678] Chr10:107092654..117852548 [GRCh37]
Chr10:10q25.1-25.3
uncertain significance
NM_020383.4(XPNPEP1):c.815G>C (p.Gly272Ala) single nucleotide variant not specified [RCV004182620] Chr10:109884082 [GRCh38]
Chr10:111643840 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.455G>A (p.Ser152Asn) single nucleotide variant not specified [RCV004117262] Chr10:109888556 [GRCh38]
Chr10:111648314 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1932G>T (p.Gln644His) single nucleotide variant not specified [RCV004212118] Chr10:109865253 [GRCh38]
Chr10:111625011 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1896C>A (p.His632Gln) single nucleotide variant not specified [RCV004115555] Chr10:109865289 [GRCh38]
Chr10:111625047 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1966A>C (p.Ile656Leu) single nucleotide variant not specified [RCV004096510] Chr10:109865219 [GRCh38]
Chr10:111624977 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1924G>A (p.Glu642Lys) single nucleotide variant not specified [RCV004174846] Chr10:109865261 [GRCh38]
Chr10:111625019 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.713T>C (p.Met238Thr) single nucleotide variant not specified [RCV004132757] Chr10:109886281 [GRCh38]
Chr10:111646039 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.267T>G (p.Cys89Trp) single nucleotide variant not specified [RCV004284992] Chr10:109893055 [GRCh38]
Chr10:111652813 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1322C>A (p.Pro441Gln) single nucleotide variant not specified [RCV004318170] Chr10:109875597 [GRCh38]
Chr10:111635355 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_020383.4(XPNPEP1):c.1057A>G (p.Met353Val) single nucleotide variant not specified [RCV004361490] Chr10:109880916 [GRCh38]
Chr10:111640674 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.849C>A (p.Asp283Glu) single nucleotide variant not specified [RCV004340369] Chr10:109882624 [GRCh38]
Chr10:111642382 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1370T>C (p.Ile457Thr) single nucleotide variant not specified [RCV004359370] Chr10:109875549 [GRCh38]
Chr10:111635307 [GRCh37]
Chr10:10q25.1
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_020383.4(XPNPEP1):c.1419A>G (p.Thr473=) single nucleotide variant not provided [RCV003422869] Chr10:109873400 [GRCh38]
Chr10:111633158 [GRCh37]
Chr10:10q25.1
likely benign
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13
likely pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_020383.4(XPNPEP1):c.1790G>A (p.Arg597Gln) single nucleotide variant not specified [RCV004485594] Chr10:109868696 [GRCh38]
Chr10:111628454 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.340G>A (p.Ala114Thr) single nucleotide variant not specified [RCV004485599] Chr10:109891797 [GRCh38]
Chr10:111651555 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1124G>A (p.Arg375Gln) single nucleotide variant not specified [RCV004485591] Chr10:109880849 [GRCh38]
Chr10:111640607 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.200C>G (p.Thr67Ser) single nucleotide variant not specified [RCV004485597] Chr10:109907737 [GRCh38]
Chr10:111667495 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.220A>G (p.Ile74Val) single nucleotide variant not specified [RCV004485598] Chr10:109907717 [GRCh38]
Chr10:111667475 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.547G>A (p.Gly183Ser) single nucleotide variant not specified [RCV004485600] Chr10:109888154 [GRCh38]
Chr10:111647912 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.680A>C (p.Asp227Ala) single nucleotide variant not specified [RCV004485601] Chr10:109886314 [GRCh38]
Chr10:111646072 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1420A>G (p.Met474Val) single nucleotide variant not specified [RCV004485593] Chr10:109873399 [GRCh38]
Chr10:111633157 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1845A>G (p.Ile615Met) single nucleotide variant not specified [RCV004485595] Chr10:109868641 [GRCh38]
Chr10:111628399 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1916T>C (p.Ile639Thr) single nucleotide variant not specified [RCV004485596] Chr10:109865269 [GRCh38]
Chr10:111625027 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1912G>A (p.Val638Met) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558051] Chr10:109865273 [GRCh38]
Chr10:111625031 [GRCh37]
Chr10:10q25.1
likely benign
NM_020383.4(XPNPEP1):c.85G>A (p.Glu29Lys) single nucleotide variant not specified [RCV004685776] Chr10:109915047 [GRCh38]
Chr10:111674805 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.812T>C (p.Ile271Thr) single nucleotide variant not specified [RCV004685777] Chr10:109884085 [GRCh38]
Chr10:111643843 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1561G>A (p.Asp521Asn) single nucleotide variant not specified [RCV004685775] Chr10:109870866 [GRCh38]
Chr10:111630624 [GRCh37]
Chr10:10q25.1
uncertain significance
NM_020383.4(XPNPEP1):c.1325T>G (p.Val442Gly) single nucleotide variant not specified [RCV004685774] Chr10:109875594 [GRCh38]
Chr10:111635352 [GRCh37]
Chr10:10q25.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7492
Count of miRNA genes:1179
Interacting mature miRNAs:1532
Transcripts:ENST00000322238, ENST00000369658, ENST00000369680, ENST00000369683, ENST00000403138, ENST00000423625, ENST00000430337, ENST00000443078, ENST00000451592, ENST00000460055, ENST00000460523, ENST00000472336, ENST00000475123, ENST00000488118, ENST00000490740, ENST00000494499, ENST00000494564, ENST00000502595, ENST00000502935, ENST00000504664, ENST00000505255, ENST00000506777, ENST00000507328, ENST00000508059, ENST00000508275, ENST00000508525, ENST00000509646, ENST00000510988, ENST00000512582, ENST00000513817
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406988529GWAS637505_Hmean corpuscular hemoglobin concentration QTL GWAS637505 (human)3e-10mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)10109921653109921654Human
407175779GWAS824755_Hbipolar I disorder QTL GWAS824755 (human)5e-10bipolar I disorder10109888901109888902Human
406913416GWAS562392_Hbipolar disorder QTL GWAS562392 (human)2e-11bipolar disorder10109888901109888902Human
406970093GWAS619069_Hsuperior crus of antihelix expression QTL GWAS619069 (human)0.0000009superior crus of antihelix expressionear measurement (CMO:0002667)10109875454109875455Human

Markers in Region
SHGC-83015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,640,450 - 111,640,579UniSTSGRCh37
Build 3610111,630,440 - 111,630,569RGDNCBI36
Celera10105,372,134 - 105,372,263RGD
Cytogenetic Map10q25.3UniSTS
HuRef10105,271,535 - 105,271,664UniSTS
TNG Radiation Hybrid Map1054039.0UniSTS
G63068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,674,874 - 111,675,223UniSTSGRCh37
Build 3610111,664,864 - 111,665,213RGDNCBI36
Celera10105,406,558 - 105,406,907RGD
Cytogenetic Map10q25.3UniSTS
HuRef10105,305,959 - 105,306,308UniSTS
TNG Radiation Hybrid Map1054058.0UniSTS
XPNPEP1_8729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,624,497 - 111,625,060UniSTSGRCh37
Build 3610111,614,487 - 111,615,050RGDNCBI36
Celera10105,356,181 - 105,356,744RGD
HuRef10105,255,571 - 105,256,134UniSTS
STS-W32419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,624,601 - 111,624,733UniSTSGRCh37
Build 3610111,614,591 - 111,614,723RGDNCBI36
Celera10105,356,285 - 105,356,417RGD
Cytogenetic Map10q25.3UniSTS
HuRef10105,255,675 - 105,255,807UniSTS
GeneMap99-GB4 RH Map10499.85UniSTS
NCBI RH Map101159.7UniSTS
WI-15620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,645,170 - 111,645,319UniSTSGRCh37
Build 3610111,635,160 - 111,635,309RGDNCBI36
Celera10105,376,854 - 105,377,003RGD
Cytogenetic Map10q25.3UniSTS
HuRef10105,276,255 - 105,276,404UniSTS
GeneMap99-GB4 RH Map10506.37UniSTS
Whitehead-RH Map10604.1UniSTS
NCBI RH Map101179.0UniSTS
D9S58  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710111,637,030 - 111,637,119UniSTSGRCh37
GRCh379112,139,649 - 112,139,781UniSTSGRCh37
Build 369111,179,470 - 111,179,602RGDNCBI36
Celera10105,368,714 - 105,368,803UniSTS
Celera982,638,954 - 82,639,086RGD
Cytogenetic Map9q31UniSTS
Cytogenetic Map10q25.3UniSTS
HuRef10105,268,114 - 105,268,203UniSTS
HuRef981,739,812 - 81,739,944UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4973 1726 2351 5 623 1950 465 2269 7300 6468 53 3734 1 851 1741 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001167604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF195530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA484161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000322238   ⟹   ENSP00000324011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,864,766 - 109,923,553 (-)Ensembl
Ensembl Acc Id: ENST00000369658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,865,054 - 109,875,668 (-)Ensembl
Ensembl Acc Id: ENST00000369683   ⟹   ENSP00000358697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,864,766 - 109,923,511 (-)Ensembl
Ensembl Acc Id: ENST00000403138   ⟹   ENSP00000385388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,435 - 109,923,490 (-)Ensembl
Ensembl Acc Id: ENST00000423625   ⟹   ENSP00000410318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,548 - 109,907,819 (-)Ensembl
Ensembl Acc Id: ENST00000430337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,524 - 109,923,470 (-)Ensembl
Ensembl Acc Id: ENST00000443078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,593 - 109,923,448 (-)Ensembl
Ensembl Acc Id: ENST00000451592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,886,270 - 109,923,440 (-)Ensembl
Ensembl Acc Id: ENST00000460055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,877,723 - 109,882,552 (-)Ensembl
Ensembl Acc Id: ENST00000460523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,432 - 109,923,467 (-)Ensembl
Ensembl Acc Id: ENST00000472336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,875,524 - 109,884,259 (-)Ensembl
Ensembl Acc Id: ENST00000475123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,891,579 - 109,907,818 (-)Ensembl
Ensembl Acc Id: ENST00000488118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,864,766 - 109,915,075 (-)Ensembl
Ensembl Acc Id: ENST00000490740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,886,266 - 109,923,431 (-)Ensembl
Ensembl Acc Id: ENST00000494499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,868,636 - 109,871,032 (-)Ensembl
Ensembl Acc Id: ENST00000494564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,871,789 - 109,882,609 (-)Ensembl
Ensembl Acc Id: ENST00000502595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,888,098 - 109,893,493 (-)Ensembl
Ensembl Acc Id: ENST00000502935   ⟹   ENSP00000421566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,864,766 - 109,923,511 (-)Ensembl
Ensembl Acc Id: ENST00000504664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,891,720 - 109,893,378 (-)Ensembl
Ensembl Acc Id: ENST00000505255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,884,106 - 109,892,584 (-)Ensembl
Ensembl Acc Id: ENST00000506777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,884,066 - 109,923,436 (-)Ensembl
Ensembl Acc Id: ENST00000507328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,880,842 - 109,884,049 (-)Ensembl
Ensembl Acc Id: ENST00000508059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,882,601 - 109,891,354 (-)Ensembl
Ensembl Acc Id: ENST00000508275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,888,496 - 109,915,179 (-)Ensembl
Ensembl Acc Id: ENST00000508525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,877,677 - 109,878,369 (-)Ensembl
Ensembl Acc Id: ENST00000509646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,880,878 - 109,915,103 (-)Ensembl
Ensembl Acc Id: ENST00000510988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,871,796 - 109,880,893 (-)Ensembl
Ensembl Acc Id: ENST00000512582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,880,873 - 109,884,539 (-)Ensembl
Ensembl Acc Id: ENST00000513817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10109,877,554 - 109,884,272 (-)Ensembl
RefSeq Acc Id: NM_001167604   ⟹   NP_001161076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
GRCh3710111,624,524 - 111,683,311 (-)ENTREZGENE
HuRef10105,255,598 - 105,314,375 (-)ENTREZGENE
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324128   ⟹   NP_001311057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324131   ⟹   NP_001311060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324132   ⟹   NP_001311061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324133   ⟹   NP_001311062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324134   ⟹   NP_001311063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324135   ⟹   NP_001311064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324136   ⟹   NP_001311065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,246 (-)NCBI
CHM1_110111,906,232 - 111,964,738 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,098 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020383   ⟹   NP_065116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
GRCh3710111,624,524 - 111,683,311 (-)ENTREZGENE
Build 3610111,614,514 - 111,673,192 (-)NCBI Archive
HuRef10105,255,598 - 105,314,375 (-)ENTREZGENE
CHM1_110111,906,232 - 111,965,041 (-)NCBI
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540134   ⟹   XP_011538436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016613   ⟹   XP_016872102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425713   ⟹   XP_047281669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,923,511 (-)NCBI
RefSeq Acc Id: XM_047425714   ⟹   XP_047281670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,864,766 - 109,907,748 (-)NCBI
RefSeq Acc Id: XM_054366684   ⟹   XP_054222659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,748,625 - 110,806,912 (-)NCBI
RefSeq Acc Id: XM_054366685   ⟹   XP_054222660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
RefSeq Acc Id: XM_054366686   ⟹   XP_054222661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
RefSeq Acc Id: XM_054366687   ⟹   XP_054222662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,748,625 - 110,807,363 (-)NCBI
RefSeq Acc Id: XM_054366688   ⟹   XP_054222663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010110,748,625 - 110,791,624 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001161076 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311061 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311063 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311064 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311065 (Get FASTA)   NCBI Sequence Viewer  
  NP_065116 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538436 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872102 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281669 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281670 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222659 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222660 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222663 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF75795 (Get FASTA)   NCBI Sequence Viewer  
  AAF97866 (Get FASTA)   NCBI Sequence Viewer  
  AAH05126 (Get FASTA)   NCBI Sequence Viewer  
  AAH07579 (Get FASTA)   NCBI Sequence Viewer  
  AAH13417 (Get FASTA)   NCBI Sequence Viewer  
  BAD97233 (Get FASTA)   NCBI Sequence Viewer  
  BAF82125 (Get FASTA)   NCBI Sequence Viewer  
  BAG52749 (Get FASTA)   NCBI Sequence Viewer  
  BAG58586 (Get FASTA)   NCBI Sequence Viewer  
  BAG65206 (Get FASTA)   NCBI Sequence Viewer  
  CAA65068 (Get FASTA)   NCBI Sequence Viewer  
  CAD38640 (Get FASTA)   NCBI Sequence Viewer  
  CAG33203 (Get FASTA)   NCBI Sequence Viewer  
  CAH18706 (Get FASTA)   NCBI Sequence Viewer  
  EAW49576 (Get FASTA)   NCBI Sequence Viewer  
  EAW49577 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000324011
  ENSP00000324011.8
  ENSP00000358697
  ENSP00000358697.1
  ENSP00000385388.2
  ENSP00000410318.1
  ENSP00000421566
  ENSP00000421566.1
GenBank Protein Q9NQW7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001161076   ⟸   NM_001167604
- Peptide Label: isoform 2
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065116   ⟸   NM_020383
- Peptide Label: isoform 1
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538436   ⟸   XM_011540134
- Peptide Label: isoform X2
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311057   ⟸   NM_001324128
- Peptide Label: isoform 3
- UniProtKB: Q5T6H7 (UniProtKB/TrEMBL),   B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311061   ⟸   NM_001324132
- Peptide Label: isoform 5
- UniProtKB: Q8N3Q0 (UniProtKB/Swiss-Prot),   Q53EX6 (UniProtKB/Swiss-Prot),   O15250 (UniProtKB/Swiss-Prot),   G8JLB2 (UniProtKB/Swiss-Prot),   G5E9Y2 (UniProtKB/Swiss-Prot),   A8K071 (UniProtKB/Swiss-Prot),   Q96D23 (UniProtKB/Swiss-Prot),   Q9NQW7 (UniProtKB/Swiss-Prot),   B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311063   ⟸   NM_001324134
- Peptide Label: isoform 7
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311064   ⟸   NM_001324135
- Peptide Label: isoform 8
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311062   ⟸   NM_001324133
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001311060   ⟸   NM_001324131
- Peptide Label: isoform 4
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311065   ⟸   NM_001324136
- Peptide Label: isoform 9
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872102   ⟸   XM_017016613
- Peptide Label: isoform X1
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000410318   ⟸   ENST00000423625
Ensembl Acc Id: ENSP00000421566   ⟸   ENST00000502935
Ensembl Acc Id: ENSP00000324011   ⟸   ENST00000322238
Ensembl Acc Id: ENSP00000385388   ⟸   ENST00000403138
Ensembl Acc Id: ENSP00000358697   ⟸   ENST00000369683
RefSeq Acc Id: XP_047281669   ⟸   XM_047425713
- Peptide Label: isoform X3
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281670   ⟸   XM_047425714
- Peptide Label: isoform X4
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL),   Q5T6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222660   ⟸   XM_054366685
- Peptide Label: isoform X1
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222662   ⟸   XM_054366687
- Peptide Label: isoform X3
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222661   ⟸   XM_054366686
- Peptide Label: isoform X2
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222659   ⟸   XM_054366684
- Peptide Label: isoform X5
- UniProtKB: Q9NQW7 (UniProtKB/Swiss-Prot),   Q8N3Q0 (UniProtKB/Swiss-Prot),   Q53EX6 (UniProtKB/Swiss-Prot),   O15250 (UniProtKB/Swiss-Prot),   G8JLB2 (UniProtKB/Swiss-Prot),   G5E9Y2 (UniProtKB/Swiss-Prot),   A8K071 (UniProtKB/Swiss-Prot),   Q96D23 (UniProtKB/Swiss-Prot),   B3KSI7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222663   ⟸   XM_054366688
- Peptide Label: isoform X4
- UniProtKB: B3KSI7 (UniProtKB/TrEMBL),   Q5T6H7 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQW7-F1-model_v2 AlphaFold Q9NQW7 1-623 view protein structure

Promoters
RGD ID:7218641
Promoter ID:EPDNEW_H15066
Type:initiation region
Name:XPNPEP1_1
Description:X-prolyl aminopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15067  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810109,923,508 - 109,923,568EPDNEW
RGD ID:6788376
Promoter ID:HG_KWN:11125
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000050255
Position:
Human AssemblyChrPosition (strand)Source
Build 3610111,633,814 - 111,634,314 (-)MPROMDB
RGD ID:6787564
Promoter ID:HG_KWN:11127
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000322238,   ENST00000369659,   ENST00000369661,   ENST00000403138,   NM_001167604,   NM_020383,   NR_030724,   OTTHUMT00000050251,   OTTHUMT00000050252,   OTTHUMT00000050254,   OTTHUMT00000050256,   OTTHUMT00000050258,   OTTHUMT00000050263
Position:
Human AssemblyChrPosition (strand)Source
Build 3610111,672,994 - 111,673,494 (-)MPROMDB
RGD ID:6851178
Promoter ID:EP73386
Type:initiation region
Name:HS_XPNPEP1
Description:X-prolyl aminopeptidase (aminopeptidase P) 1, soluble.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 3610111,673,194 - 111,673,254EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12822 AgrOrtholog
COSMIC XPNPEP1 COSMIC
Ensembl Genes ENSG00000108039 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322238 ENTREZGENE
  ENST00000322238.12 UniProtKB/Swiss-Prot
  ENST00000369683 ENTREZGENE
  ENST00000369683.5 UniProtKB/TrEMBL
  ENST00000403138.6 UniProtKB/TrEMBL
  ENST00000423625.1 UniProtKB/TrEMBL
  ENST00000502935 ENTREZGENE
  ENST00000502935.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.350.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108039 GTEx
HGNC ID HGNC:12822 ENTREZGENE
Human Proteome Map XPNPEP1 Human Proteome Map
InterPro Creatin/AminoP/Spt16_NTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Creatinase/aminopeptidase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Creatinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M24B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24B_aminopep-P_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  X-Pro_aminopeptidase_P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7511 UniProtKB/Swiss-Prot
NCBI Gene 7511 ENTREZGENE
OMIM 602443 OMIM
PANTHER XAA-PRO AMINOPEPTIDASE 1 UniProtKB/Swiss-Prot
  XAA-PRO AMINOPEPTIDASE 1 UniProtKB/Swiss-Prot
  XAA-PRO AMINOPEPTIDASE 1 UniProtKB/TrEMBL
  XAA-PRO AMINOPEPTIDASE 1 UniProtKB/TrEMBL
Pfam Creatinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Creatinase_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M24_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37415 PharmGKB
PROSITE PROLINE_PEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K071 ENTREZGENE
  B3KSI7 ENTREZGENE, UniProtKB/TrEMBL
  G5E9Y2 ENTREZGENE
  G8JLB2 ENTREZGENE
  O15250 ENTREZGENE
  Q53EX6 ENTREZGENE
  Q5T6H2_HUMAN UniProtKB/TrEMBL
  Q5T6H3_HUMAN UniProtKB/TrEMBL
  Q5T6H7 ENTREZGENE, UniProtKB/TrEMBL
  Q8N3Q0 ENTREZGENE
  Q96D23 ENTREZGENE
  Q9NQW7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K071 UniProtKB/Swiss-Prot
  G5E9Y2 UniProtKB/Swiss-Prot
  G8JLB2 UniProtKB/Swiss-Prot
  O15250 UniProtKB/Swiss-Prot
  Q53EX6 UniProtKB/Swiss-Prot
  Q8N3Q0 UniProtKB/Swiss-Prot
  Q96D23 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 XPNPEP1  X-prolyl aminopeptidase 1    X-prolyl aminopeptidase (aminopeptidase P) 1, soluble  Symbol and/or name change 5135510 APPROVED