RNPEP (arginyl aminopeptidase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: RNPEP (arginyl aminopeptidase) Homo sapiens
Analyze
Symbol: RNPEP
Name: arginyl aminopeptidase
RGD ID: 733030
HGNC Page HGNC:10078
Description: Predicted to enable metalloaminopeptidase activity. Predicted to be involved in proteolysis. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: aminopeptidase B; AP-B; APB; arginine aminopeptidase; arginyl aminopeptidase (aminopeptidase B); DKFZp547H084
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
GRCh381201,982,648 - 202,006,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1201,982,372 - 202,006,147 (+)EnsemblGRCh38hg38GRCh38
GRCh371201,951,776 - 201,975,271 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361200,218,389 - 200,241,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 341198,683,422 - 198,706,931NCBI
Celera1175,075,517 - 175,099,029 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1173,117,652 - 173,141,163 (+)NCBIHuRef
CHM1_11203,373,998 - 203,397,522 (+)NCBICHM1_1
T2T-CHM13v2.01201,240,334 - 201,263,798 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-naphthylamine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dehydroepiandrosterone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
Mesaconitine  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
Nutlin-3  (EXP)
ozone  (EXP,ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (EXP,ISO)
pirimiphos-methyl  (ISO)
rotenone  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Renin-angiotensin system-regulating aminopeptidase activities are modified in the pineal gland of rats with breast cancer induced by N-methyl-nitrosourea. Carrera MP, etal., Cancer Invest. 2006 Mar;24(2):149-53.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Insulin-regulated aminopeptidase/placental leucil Aminopeptidase (IRAP/P-lAP) and angiotensin IV-forming activities are modified in serum of rats with breast cancer induced by N-methyl-nitrosourea. Pilar Carrera M, etal., Anticancer Res. 2006 Mar-Apr;26(2A):1011-4.
4. Activities of aminopeptidases in a rat saline model of volume hypertension. Prieto I, etal., Horm Metab Res. 1998 May;30(5):246-8.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Dysfunction of central angiotensinergic aminopeptidase activity in spontaneously hypertensive rats. Wright JW, etal., Neurosci Lett. 1985 Nov 11;61(3):351-6.
Additional References at PubMed
PMID:8344358   PMID:8895530   PMID:9405297   PMID:9533033   PMID:10467730   PMID:12119107   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16344560   PMID:16981702  
PMID:19056867   PMID:19199708   PMID:21862451   PMID:21873635   PMID:22586326   PMID:23376485   PMID:23500679   PMID:23533145   PMID:25530263   PMID:25921289   PMID:25997998   PMID:26078706  
PMID:26311161   PMID:26344197   PMID:27068509   PMID:27342126   PMID:28515276   PMID:28986522   PMID:29117863   PMID:29549164   PMID:30397336   PMID:30711629   PMID:30948266   PMID:31091453  
PMID:31300519   PMID:31932471   PMID:31980649   PMID:32416067   PMID:32989298   PMID:33545068   PMID:33845483   PMID:33961781   PMID:35012549   PMID:35241646   PMID:35256949   PMID:35271311  
PMID:35446349   PMID:35509820   PMID:35687106   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37223481   PMID:37827155   PMID:38113892   PMID:38496616  


Genomics

Comparative Map Data
RNPEP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381201,982,648 - 202,006,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1201,982,372 - 202,006,147 (+)EnsemblGRCh38hg38GRCh38
GRCh371201,951,776 - 201,975,271 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361200,218,389 - 200,241,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 341198,683,422 - 198,706,931NCBI
Celera1175,075,517 - 175,099,029 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1173,117,652 - 173,141,163 (+)NCBIHuRef
CHM1_11203,373,998 - 203,397,522 (+)NCBICHM1_1
T2T-CHM13v2.01201,240,334 - 201,263,798 (+)NCBIT2T-CHM13v2.0
Rnpep
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391135,190,447 - 135,211,765 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1135,190,450 - 135,211,822 (-)EnsemblGRCm39 Ensembl
GRCm381135,262,699 - 135,284,423 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1135,262,712 - 135,284,084 (-)EnsemblGRCm38mm10GRCm38
MGSCv371137,159,276 - 137,180,661 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361137,079,123 - 137,100,445 (-)NCBIMGSCv36mm8
Celera1137,887,970 - 137,909,160 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map158.43NCBI
Rnpep
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81349,251,259 - 49,271,440 (-)NCBIGRCr8
mRatBN7.21346,699,458 - 46,717,829 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1346,699,463 - 46,717,998 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1349,306,528 - 49,324,611 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01350,594,605 - 50,612,686 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01347,860,650 - 47,879,132 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01352,092,863 - 52,124,006 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1352,092,859 - 52,111,363 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01357,144,697 - 57,163,164 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41348,267,923 - 48,286,295 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11348,281,967 - 48,300,338 (-)NCBI
Celera1347,022,135 - 47,040,506 (-)NCBICelera
Cytogenetic Map13q13NCBI
Rnpep
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540638,103,426 - 38,122,358 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540638,103,701 - 38,122,162 (+)NCBIChiLan1.0ChiLan1.0
RNPEP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2147,376,889 - 47,400,418 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1147,341,586 - 47,366,097 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01177,579,349 - 177,602,865 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11181,881,128 - 181,904,334 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1181,880,404 - 181,903,906 (+)Ensemblpanpan1.1panPan2
RNPEP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.17966,563 - 985,169 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl7966,607 - 984,714 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha71,018,226 - 1,036,397 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.07974,388 - 992,561 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl7974,388 - 992,593 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.17962,438 - 980,611 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.071,070,635 - 1,088,791 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.071,094,644 - 1,112,818 (-)NCBIUU_Cfam_GSD_1.0
Rnpep
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934473,269,882 - 73,290,311 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365672,504,537 - 2,525,018 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365672,504,544 - 2,524,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNPEP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1024,218,139 - 24,235,518 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11024,218,144 - 24,235,520 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21028,635,318 - 28,639,788 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RNPEP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12527,401,749 - 27,426,371 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2527,401,757 - 27,426,410 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605528,184,309 - 28,208,990 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnpep
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248078,737,839 - 8,754,414 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNPEP
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3 copy number gain See cases [RCV000051558] Chr1:201226425..202014204 [GRCh38]
Chr1:201195553..201983332 [GRCh37]
Chr1:199462176..200249955 [NCBI36]
Chr1:1q32.1		 uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
NM_020216.3(RNPEP):c.679C>T (p.Pro227Ser) single nucleotide variant Malignant melanoma [RCV000064456] Chr1:201989473 [GRCh38]
Chr1:201958601 [GRCh37]
Chr1:200225224 [NCBI36]
Chr1:1q32.1		 not provided
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020216.4(RNPEP):c.1205G>A (p.Gly402Asp) single nucleotide variant not specified [RCV004317453] Chr1:202001376 [GRCh38]
Chr1:201970504 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1060G>A (p.Ala354Thr) single nucleotide variant not specified [RCV004295599] Chr1:201997524 [GRCh38]
Chr1:201966652 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.799A>G (p.Ile267Val) single nucleotide variant not specified [RCV004281998] Chr1:201996208 [GRCh38]
Chr1:201965336 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q32.1(chr1:201952244-201959490)x3 copy number gain not provided [RCV000749329] Chr1:201952244..201959490 [GRCh37]
Chr1:1q32.1		 benign
NM_020216.4(RNPEP):c.949C>T (p.Arg317Cys) single nucleotide variant not provided [RCV000883970] Chr1:201997413 [GRCh38]
Chr1:201966541 [GRCh37]
Chr1:1q32.1		 benign
NM_020216.4(RNPEP):c.552G>A (p.Thr184=) single nucleotide variant not provided [RCV000946549] Chr1:201989008 [GRCh38]
Chr1:201958136 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_020216.4(RNPEP):c.584T>C (p.Ile195Thr) single nucleotide variant not specified [RCV004303743] Chr1:201989040 [GRCh38]
Chr1:201958168 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.559G>A (p.Val187Ile) single nucleotide variant not specified [RCV004286170] Chr1:201989015 [GRCh38]
Chr1:201958143 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_020216.4(RNPEP):c.1207G>A (p.Val403Ile) single nucleotide variant not specified [RCV004238205] Chr1:202001378 [GRCh38]
Chr1:201970506 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1715G>A (p.Arg572Gln) single nucleotide variant not specified [RCV004217088] Chr1:202004417 [GRCh38]
Chr1:201973545 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.181G>T (p.Gly61Cys) single nucleotide variant not specified [RCV004126475] Chr1:201982847 [GRCh38]
Chr1:201951975 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1565T>C (p.Ile522Thr) single nucleotide variant not specified [RCV004202638] Chr1:202003375 [GRCh38]
Chr1:201972503 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1139G>A (p.Arg380His) single nucleotide variant not specified [RCV004192304] Chr1:201999950 [GRCh38]
Chr1:201969078 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_020216.4(RNPEP):c.1297C>G (p.Gln433Glu) single nucleotide variant not specified [RCV004195054] Chr1:202001468 [GRCh38]
Chr1:201970596 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.466G>A (p.Glu156Lys) single nucleotide variant not specified [RCV004113774] Chr1:201988922 [GRCh38]
Chr1:201958050 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1102A>T (p.Thr368Ser) single nucleotide variant not specified [RCV004138669] Chr1:201999913 [GRCh38]
Chr1:201969041 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1127G>A (p.Arg376Gln) single nucleotide variant not specified [RCV004184943] Chr1:201999938 [GRCh38]
Chr1:201969066 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.829C>T (p.Leu277Phe) single nucleotide variant not specified [RCV004142033] Chr1:201996238 [GRCh38]
Chr1:201965366 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.187G>A (p.Ala63Thr) single nucleotide variant not specified [RCV004227323] Chr1:201982853 [GRCh38]
Chr1:201951981 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.290G>T (p.Arg97Leu) single nucleotide variant not specified [RCV004188224] Chr1:201982956 [GRCh38]
Chr1:201952084 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1029A>C (p.Glu343Asp) single nucleotide variant not specified [RCV004104843] Chr1:201997493 [GRCh38]
Chr1:201966621 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1040A>G (p.Asn347Ser) single nucleotide variant not specified [RCV004074062] Chr1:201997504 [GRCh38]
Chr1:201966632 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.374C>T (p.Ser125Phe) single nucleotide variant not specified [RCV004198233] Chr1:201983040 [GRCh38]
Chr1:201952168 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1510C>G (p.Pro504Ala) single nucleotide variant not specified [RCV004191333] Chr1:202003320 [GRCh38]
Chr1:201972448 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.952T>A (p.Ser318Thr) single nucleotide variant not specified [RCV004082745] Chr1:201997416 [GRCh38]
Chr1:201966544 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004110121] Chr1:201982671 [GRCh38]
Chr1:201951799 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1841G>T (p.Gly614Val) single nucleotide variant not specified [RCV004181198] Chr1:202005604 [GRCh38]
Chr1:201974732 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1147A>G (p.Met383Val) single nucleotide variant not specified [RCV004149923] Chr1:201999958 [GRCh38]
Chr1:201969086 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1093G>A (p.Ala365Thr) single nucleotide variant not specified [RCV004165882] Chr1:201999904 [GRCh38]
Chr1:201969032 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1358A>C (p.Asp453Ala) single nucleotide variant not specified [RCV004136528] Chr1:202001699 [GRCh38]
Chr1:201970827 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1844G>A (p.Ser615Asn) single nucleotide variant not specified [RCV004124732] Chr1:202005607 [GRCh38]
Chr1:201974735 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.830T>C (p.Leu277Pro) single nucleotide variant not specified [RCV004182509] Chr1:201996239 [GRCh38]
Chr1:201965367 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.896G>A (p.Gly299Glu) single nucleotide variant not specified [RCV004114742] Chr1:201997360 [GRCh38]
Chr1:201966488 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.397G>T (p.Ala133Ser) single nucleotide variant not specified [RCV004081584] Chr1:201983063 [GRCh38]
Chr1:201952191 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1268A>T (p.Tyr423Phe) single nucleotide variant not specified [RCV004269063] Chr1:202001439 [GRCh38]
Chr1:201970567 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.145C>T (p.Pro49Ser) single nucleotide variant not specified [RCV004272923] Chr1:201982811 [GRCh38]
Chr1:201951939 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.793G>A (p.Gly265Arg) single nucleotide variant not specified [RCV004353557] Chr1:201996202 [GRCh38]
Chr1:201965330 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.71A>T (p.Asp24Val) single nucleotide variant not specified [RCV004357566] Chr1:201982737 [GRCh38]
Chr1:201951865 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.929C>T (p.Pro310Leu) single nucleotide variant not specified [RCV004363885] Chr1:201997393 [GRCh38]
Chr1:201966521 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 copy number loss not specified [RCV003986384] Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_020216.4(RNPEP):c.1015G>A (p.Ala339Thr) single nucleotide variant not specified [RCV004446856] Chr1:201997479 [GRCh38]
Chr1:201966607 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.103G>A (p.Glu35Lys) single nucleotide variant not specified [RCV004446858] Chr1:201982769 [GRCh38]
Chr1:201951897 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1186C>G (p.Arg396Gly) single nucleotide variant not specified [RCV004446860] Chr1:201999997 [GRCh38]
Chr1:201969125 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.152G>A (p.Gly51Glu) single nucleotide variant not specified [RCV004446862] Chr1:201982818 [GRCh38]
Chr1:201951946 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1541C>T (p.Ala514Val) single nucleotide variant not specified [RCV004446863] Chr1:202003351 [GRCh38]
Chr1:201972479 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1557G>A (p.Met519Ile) single nucleotide variant not specified [RCV004446864] Chr1:202003367 [GRCh38]
Chr1:201972495 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1673A>G (p.Asp558Gly) single nucleotide variant not specified [RCV004446865] Chr1:202004375 [GRCh38]
Chr1:201973503 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1019A>G (p.Asn340Ser) single nucleotide variant not specified [RCV004446857] Chr1:201997483 [GRCh38]
Chr1:201966611 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.278T>C (p.Leu93Pro) single nucleotide variant not specified [RCV004449348] Chr1:201982944 [GRCh38]
Chr1:201952072 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.41G>A (p.Arg14Gln) single nucleotide variant not specified [RCV004449349] Chr1:201982707 [GRCh38]
Chr1:201951835 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.434G>A (p.Gly145Glu) single nucleotide variant not specified [RCV004449350] Chr1:201983100 [GRCh38]
Chr1:201952228 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.526C>T (p.Arg176Trp) single nucleotide variant not specified [RCV004449352] Chr1:201988982 [GRCh38]
Chr1:201958110 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.773C>T (p.Ala258Val) single nucleotide variant not specified [RCV004449353] Chr1:201996182 [GRCh38]
Chr1:201965310 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.922G>A (p.Val308Ile) single nucleotide variant not specified [RCV004449354] Chr1:201997386 [GRCh38]
Chr1:201966514 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.974A>G (p.His325Arg) single nucleotide variant not specified [RCV004449355] Chr1:201997438 [GRCh38]
Chr1:201966566 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1121C>T (p.Thr374Met) single nucleotide variant not specified [RCV004446859] Chr1:201999932 [GRCh38]
Chr1:201969060 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1261G>A (p.Val421Ile) single nucleotide variant not specified [RCV004446861] Chr1:202001432 [GRCh38]
Chr1:201970560 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1933G>A (p.Val645Met) single nucleotide variant not specified [RCV004449347] Chr1:202005696 [GRCh38]
Chr1:201974824 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_020216.4(RNPEP):c.654C>G (p.Phe218Leu) single nucleotide variant not specified [RCV004665562] Chr1:201989448 [GRCh38]
Chr1:201958576 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_020216.4(RNPEP):c.1747G>A (p.Asp583Asn) single nucleotide variant not specified [RCV004674149] Chr1:202004449 [GRCh38]
Chr1:201973577 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3184
Count of miRNA genes:944
Interacting mature miRNAs:1179
Transcripts:ENST00000295640, ENST00000367286, ENST00000447312, ENST00000449524, ENST00000464707, ENST00000471105, ENST00000478617, ENST00000479531, ENST00000479726, ENST00000481780, ENST00000487116, ENST00000492587, ENST00000492849
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
407062402GWAS711378_Hmetabolite measurement QTL GWAS711378 (human)5e-162metabolite measurement1201990327201990328Human
407165222GWAS814198_HFEV/FVC ratio, response to bronchodilator QTL GWAS814198 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)1201994931201994932Human
407220675GWAS869651_Hprolylglycine measurement QTL GWAS869651 (human)2e-08prolylglycine measurement1201997167201997168Human
407153256GWAS802232_Hurinary metabolite measurement QTL GWAS802232 (human)1e-56urinary metabolite measurement1201983470201983471Human
406949490GWAS598466_Hprotein measurement QTL GWAS598466 (human)1e-17protein measurement1201983470201983471Human
406970293GWAS619269_Hprotein measurement QTL GWAS619269 (human)1e-70protein measurement1201996189201996190Human
407234225GWAS883201_Hblood protein measurement QTL GWAS883201 (human)9e-18blood protein measurementblood protein measurement (CMO:0000028)1201989506201989507Human
407234483GWAS883459_Hblood protein measurement QTL GWAS883459 (human)2e-69blood protein measurementblood protein measurement (CMO:0000028)1202003761202003762Human
407057620GWAS706596_Hbutyrylcholinesterase measurement QTL GWAS706596 (human)9e-16butyrylcholinesterase measurement1201983446201983447Human
406994618GWAS643594_Hlevel of aminopeptidase B in blood serum QTL GWAS643594 (human)1e-12level of aminopeptidase B in blood serum1202004437202004438Human
407064250GWAS713226_Hprolylglycine measurement QTL GWAS713226 (human)2e-11prolylglycine measurement1201991325201991326Human
407192668GWAS841644_Hblood protein measurement QTL GWAS841644 (human)6e-21blood protein measurementblood protein measurement (CMO:0000028)1201996189201996190Human
407254587GWAS903563_Hmetabolite measurement QTL GWAS903563 (human)1e-15metabolite measurement1201999135201999136Human
407022140GWAS671116_Hblood protein measurement QTL GWAS671116 (human)4e-42blood protein measurementblood protein measurement (CMO:0000028)1201996727201996728Human
407104573GWAS753549_Hprotein measurement QTL GWAS753549 (human)1e-08protein measurement1201983470201983471Human
407140186GWAS789162_Hforced expiratory volume, response to bronchodilator QTL GWAS789162 (human)0.000002forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)1201994931201994932Human

Markers in Region
SHGC-33108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,975,114 - 201,975,241UniSTSGRCh37
Build 361200,241,737 - 200,241,864RGDNCBI36
Celera1175,098,868 - 175,098,995RGD
Cytogenetic Map1q32UniSTS
HuRef1173,141,002 - 173,141,129UniSTS
TNG Radiation Hybrid Map1105087.0UniSTS
GeneMap99-GB4 RH Map1666.41UniSTS
GeneMap99-GB4 RH Map1669.03UniSTS
Whitehead-RH Map1825.6UniSTS
RNPEP_8596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,974,695 - 201,975,244UniSTSGRCh37
Build 361200,241,318 - 200,241,867RGDNCBI36
Celera1175,098,449 - 175,098,998RGD
HuRef1173,140,583 - 173,141,132UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001319182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ296161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG388104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BN000001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ182382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ898593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY994108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA359487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA684772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295640   ⟹   ENSP00000295640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,648 - 202,006,143 (+)Ensembl
Ensembl Acc Id: ENST00000367286   ⟹   ENSP00000356255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,652 - 202,006,147 (+)Ensembl
Ensembl Acc Id: ENST00000447312   ⟹   ENSP00000389602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,983,330 - 202,001,767 (+)Ensembl
Ensembl Acc Id: ENST00000449524   ⟹   ENSP00000407614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,996,172 - 202,001,722 (+)Ensembl
Ensembl Acc Id: ENST00000464707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,001,261 - 202,003,349 (+)Ensembl
Ensembl Acc Id: ENST00000471105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,955 - 202,006,147 (+)Ensembl
Ensembl Acc Id: ENST00000478617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,983,375 - 202,003,420 (+)Ensembl
Ensembl Acc Id: ENST00000479531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1202,001,469 - 202,004,496 (+)Ensembl
Ensembl Acc Id: ENST00000479726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,983,379 - 201,999,945 (+)Ensembl
Ensembl Acc Id: ENST00000481780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,372 - 202,001,399 (+)Ensembl
Ensembl Acc Id: ENST00000487116   ⟹   ENSP00000478325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,757 - 201,997,554 (+)Ensembl
Ensembl Acc Id: ENST00000492587   ⟹   ENSP00000478884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,982,819 - 202,001,488 (+)Ensembl
Ensembl Acc Id: ENST00000492849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,983,471 - 202,003,318 (+)Ensembl
Ensembl Acc Id: ENST00000620670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,983,491 - 201,989,530 (+)Ensembl
RefSeq Acc Id: NM_001319182   ⟹   NP_001306111
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,983,361 - 202,006,143 (+)NCBI
CHM1_11203,374,690 - 203,397,522 (+)NCBI
T2T-CHM13v2.01201,241,050 - 201,263,798 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319183   ⟹   NP_001306112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,982,648 - 202,006,143 (+)NCBI
CHM1_11203,373,998 - 203,397,522 (+)NCBI
T2T-CHM13v2.01201,240,334 - 201,263,798 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319184   ⟹   NP_001306113
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,982,648 - 202,006,143 (+)NCBI
CHM1_11203,373,998 - 203,397,522 (+)NCBI
T2T-CHM13v2.01201,240,334 - 201,263,798 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020216   ⟹   NP_064601
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,982,648 - 202,006,143 (+)NCBI
GRCh371201,951,766 - 201,975,275 (+)RGD
GRCh371201,951,766 - 201,975,275 (+)NCBI
Build 361200,218,389 - 200,241,898 (+)NCBI Archive
Celera1175,075,517 - 175,099,029 (+)RGD
HuRef1173,117,652 - 173,141,163 (+)ENTREZGENE
CHM1_11203,373,998 - 203,397,522 (+)NCBI
T2T-CHM13v2.01201,240,334 - 201,263,798 (+)NCBI
Sequence:
RefSeq Acc Id: NP_064601   ⟸   NM_020216
- Peptide Label: isoform a
- UniProtKB: Q9H1D4 (UniProtKB/Swiss-Prot),   Q9BVM9 (UniProtKB/Swiss-Prot),   Q9NPT7 (UniProtKB/Swiss-Prot),   Q9H4A4 (UniProtKB/Swiss-Prot),   Q7RU04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306112   ⟸   NM_001319183
- Peptide Label: isoform c
- UniProtKB: Q9H4A4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306113   ⟸   NM_001319184
- Peptide Label: isoform c
- UniProtKB: Q9H4A4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306111   ⟸   NM_001319182
- Peptide Label: isoform b
- UniProtKB: Q9H4A4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000295640   ⟸   ENST00000295640
Ensembl Acc Id: ENSP00000478884   ⟸   ENST00000492587
Ensembl Acc Id: ENSP00000356255   ⟸   ENST00000367286
Ensembl Acc Id: ENSP00000389602   ⟸   ENST00000447312
Ensembl Acc Id: ENSP00000478325   ⟸   ENST00000487116
Ensembl Acc Id: ENSP00000407614   ⟸   ENST00000449524
Protein Domains
Aminopeptidase N-like N-terminal   Peptidase M1 leukotriene A4 hydrolase/aminopeptidase   Peptidase M1 membrane alanine aminopeptidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4A4-F1-model_v2 AlphaFold Q9H4A4 1-650 view protein structure

Promoters
RGD ID:6785358
Promoter ID:HG_KWN:6804
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367286,   OTTHUMT00000087345,   OTTHUMT00000087348,   OTTHUMT00000087349,   OTTHUMT00000087350,   OTTHUMT00000087351,   OTTHUMT00000087352,   OTTHUMT00000087353,   OTTHUMT00000087354,   UC001GXE.1,   UC001GXF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361200,218,391 - 200,219,092 (+)MPROMDB
RGD ID:6786445
Promoter ID:HG_KWN:6805
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000087355
Position:
Human AssemblyChrPosition (strand)Source
Build 361200,231,541 - 200,232,041 (+)MPROMDB
RGD ID:6858564
Promoter ID:EPDNEW_H2447
Type:initiation region
Name:RNPEP_1
Description:arginyl aminopeptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,982,648 - 201,982,708EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10078 AgrOrtholog
COSMIC RNPEP COSMIC
Ensembl Genes ENSG00000176393 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295640 ENTREZGENE
  ENST00000295640.9 UniProtKB/Swiss-Prot
  ENST00000367286.7 UniProtKB/TrEMBL
  ENST00000447312.5 UniProtKB/TrEMBL
  ENST00000449524.1 UniProtKB/TrEMBL
  ENST00000471105 ENTREZGENE
  ENST00000487116.5 UniProtKB/TrEMBL
  ENST00000492587.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.320 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.2010.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176393 GTEx
HGNC ID HGNC:10078 ENTREZGENE
Human Proteome Map RNPEP Human Proteome Map
InterPro Aminopeptidase_N-like_N UniProtKB/Swiss-Prot
  Aminopeptidase_N-like_N UniProtKB/Swiss-Prot
  Aminopeptidase_N-like_N UniProtKB/TrEMBL
  Aminopeptidase_N-like_N UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LTA4H_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M1_LTA-4_hydro/amino_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M1_LTA4H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M4/M1_CTD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6051 UniProtKB/Swiss-Prot
NCBI Gene 6051 ENTREZGENE
OMIM 602675 OMIM
PANTHER PTHR45726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45726:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Leuk-A4-hydro_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34451 PharmGKB
PRINTS ALADIPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART Leuk-A4-hydro_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WU27_HUMAN UniProtKB/TrEMBL
  A0A087WUS4_HUMAN UniProtKB/TrEMBL
  A6NKB8_HUMAN UniProtKB/TrEMBL
  AMPB_HUMAN UniProtKB/Swiss-Prot
  C9JMZ3_HUMAN UniProtKB/TrEMBL
  H7C2T3_HUMAN UniProtKB/TrEMBL
  Q7RU04 ENTREZGENE, UniProtKB/TrEMBL
  Q9BVM9 ENTREZGENE
  Q9H1D4 ENTREZGENE
  Q9H4A4 ENTREZGENE
  Q9NPT7 ENTREZGENE
UniProt Secondary Q9BVM9 UniProtKB/Swiss-Prot
  Q9H1D4 UniProtKB/Swiss-Prot
  Q9NPT7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 RNPEP  arginyl aminopeptidase    arginyl aminopeptidase (aminopeptidase B)  Symbol and/or name change 5135510 APPROVED