PRPSAP1 (phosphoribosyl pyrophosphate synthetase associated protein 1) - Rat Genome Database

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Gene: PRPSAP1 (phosphoribosyl pyrophosphate synthetase associated protein 1) Homo sapiens
Analyze
Symbol: PRPSAP1
Name: phosphoribosyl pyrophosphate synthetase associated protein 1
RGD ID: 733778
HGNC Page HGNC:9466
Description: Enables identical protein binding activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 39 kDa phosphoribosypyrophosphate synthase-associated protein; PAP39; phosphoribosyl pyrophosphate synthase-associated protein 1; phosphoribosyl pyrophosphate synthetase-associated protein 1; PRPP synthase-associated protein 1
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
GRCh381776,309,478 - 76,354,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,309,478 - 76,384,521 (-)Ensemblhg38GRCh38
GRCh371774,305,559 - 74,350,279 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,818,610 - 71,861,526 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341771,818,609 - 71,861,526NCBI
Celera1770,901,207 - 70,943,527 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,735,400 - 69,778,716 (-)NCBIHuRef
CHM1_11774,371,766 - 74,415,154 (-)NCBICHM1_1
T2T-CHM13v2.01777,206,033 - 77,250,766 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
apigenin  (ISO)
arsenite(3-)  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diuron  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
gallic acid  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-ethionine  (ISO)
leflunomide  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
mifepristone  (ISO)
nickel atom  (EXP)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sunitinib  (EXP)
tetrahydropalmatine  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7572345   PMID:8132556   PMID:8611620   PMID:8660991   PMID:9366267   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16189514   PMID:16344560   PMID:17207965  
PMID:17353931   PMID:19447967   PMID:20462248   PMID:21145461   PMID:21873635   PMID:21988832   PMID:22199357   PMID:22678362   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23263486  
PMID:23472066   PMID:24337577   PMID:25416956   PMID:25437307   PMID:25515538   PMID:25910212   PMID:26186194   PMID:26344197   PMID:26354767   PMID:26496610   PMID:26673895   PMID:27025967  
PMID:27107014   PMID:27342126   PMID:28276505   PMID:28514442   PMID:28515276   PMID:29449217   PMID:29955894   PMID:30833792   PMID:30940648   PMID:31091453   PMID:31515488   PMID:31540324  
PMID:31665637   PMID:31839598   PMID:31980649   PMID:32296183   PMID:32513696   PMID:32807901   PMID:33022573   PMID:33417871   PMID:33462405   PMID:33961781   PMID:34349018   PMID:34728620  
PMID:35007762   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35831314   PMID:35944360   PMID:36042349   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36273042   PMID:36538041  
PMID:37071682   PMID:37167062   PMID:37267103   PMID:37314216   PMID:37317656   PMID:38113892  


Genomics

Comparative Map Data
PRPSAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381776,309,478 - 76,354,198 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,309,478 - 76,384,521 (-)Ensemblhg38GRCh38
GRCh371774,305,559 - 74,350,279 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,818,610 - 71,861,526 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341771,818,609 - 71,861,526NCBI
Celera1770,901,207 - 70,943,527 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1769,735,400 - 69,778,716 (-)NCBIHuRef
CHM1_11774,371,766 - 74,415,154 (-)NCBICHM1_1
T2T-CHM13v2.01777,206,033 - 77,250,766 (-)NCBIT2T-CHM13v2.0
Prpsap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911116,361,641 - 116,385,739 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11116,361,671 - 116,385,461 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm3811116,470,816 - 116,494,913 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,470,845 - 116,494,202 (-)Ensemblmm10GRCm38
MGSCv3711116,332,130 - 116,351,660 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3611116,286,588 - 116,315,017 (-)NCBIMGSCv36mm8
Celera11128,239,926 - 128,259,180 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1181.34NCBI
Prpsap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810102,199,949 - 102,221,642 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl10102,199,950 - 102,221,642 (-)EnsemblGRCr8
mRatBN7.210101,701,094 - 101,750,753 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10101,701,096 - 101,750,751 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx10106,757,499 - 106,779,133 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010106,220,577 - 106,242,211 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010101,621,981 - 101,643,676 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.010105,430,516 - 105,492,154 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10105,430,520 - 105,452,228 (-)Ensemblrn6Rnor6.0
Rnor_5.010105,092,063 - 105,113,772 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.410106,582,381 - 106,604,072 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera10100,273,440 - 100,295,162 (-)NCBICelera
RGSC_v3.110106,596,897 - 106,618,475 (-)NCBI
Cytogenetic Map10q32.1NCBI
Prpsap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555065,951,210 - 5,987,658 (+)Ensembl
ChiLan1.0NW_0049555065,951,210 - 5,987,658 (+)NCBIChiLan1.0ChiLan1.0
PRPSAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21992,353,684 - 92,397,196 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11797,178,894 - 97,222,407 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01770,258,663 - 70,302,287 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11775,810,423 - 75,853,442 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,810,423 - 75,853,442 (-)EnsemblpanPan2panpan1.1
PRPSAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,346,282 - 4,372,067 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,346,297 - 4,372,067 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha95,026,361 - 5,052,101 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.095,018,066 - 5,042,293 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl95,018,081 - 5,042,694 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.195,056,383 - 5,082,115 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.095,166,189 - 5,191,954 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.095,239,252 - 5,251,685 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Prpsap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056024,960,002 - 4,985,410 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365941,427,122 - 1,456,562 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365941,426,549 - 1,451,984 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPSAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,144,069 - 5,174,382 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1125,141,223 - 5,174,383 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,047,807 - 5,078,207 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPSAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,326,152 - 45,368,636 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1645,314,259 - 45,370,274 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607716,068,148 - 16,113,868 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prpsap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248016,177,277 - 6,206,786 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248016,177,277 - 6,206,846 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in PRPSAP1
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4 copy number gain See cases [RCV000510197] Chr17:73992637..75099218 [GRCh37]
Chr17:17q25.1-25.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_002766.3(PRPSAP1):c.454G>A (p.Ala152Thr) single nucleotide variant not specified [RCV004318976] Chr17:76332272 [GRCh38]
Chr17:74328353 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.1(chr17:74270869-74393681)x3 copy number gain not provided [RCV000739682] Chr17:74270869..74393681 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q25.1(chr17:74273299-74413885)x3 copy number gain not provided [RCV000739683] Chr17:74273299..74413885 [GRCh37]
Chr17:17q25.1		 benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2		 likely pathogenic
NM_002766.3(PRPSAP1):c.523T>C (p.Phe175Leu) single nucleotide variant not specified [RCV004284150] Chr17:76330607 [GRCh38]
Chr17:74326688 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:74286105-74413899)x3 copy number gain not provided [RCV000848634] Chr17:74286105..74413899 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_002766.3(PRPSAP1):c.701C>T (p.Thr234Met) single nucleotide variant not specified [RCV004148022] Chr17:76328797 [GRCh38]
Chr17:74324878 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.991G>T (p.Val331Leu) single nucleotide variant not specified [RCV004207527] Chr17:76312878 [GRCh38]
Chr17:74308959 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.668G>A (p.Gly223Asp) single nucleotide variant not specified [RCV004133254] Chr17:76328830 [GRCh38]
Chr17:74324911 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.992T>C (p.Val331Ala) single nucleotide variant not specified [RCV004207528] Chr17:76312877 [GRCh38]
Chr17:74308958 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.70C>G (p.Pro24Ala) single nucleotide variant not specified [RCV004131478] Chr17:76353634 [GRCh38]
Chr17:74349715 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.80C>G (p.Pro27Arg) single nucleotide variant not specified [RCV004157132] Chr17:76353624 [GRCh38]
Chr17:74349705 [GRCh37]
Chr17:17q25.1		 likely benign
NM_002766.3(PRPSAP1):c.1136G>A (p.Arg379Gln) single nucleotide variant not specified [RCV004240220] Chr17:76311564 [GRCh38]
Chr17:74307645 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.610G>C (p.Ala204Pro) single nucleotide variant not specified [RCV004145096] Chr17:76330068 [GRCh38]
Chr17:74326149 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.7A>G (p.Lys3Glu) single nucleotide variant not specified [RCV004194081] Chr17:76353697 [GRCh38]
Chr17:74349778 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.167C>A (p.Thr56Lys) single nucleotide variant not specified [RCV004323605] Chr17:76353537 [GRCh38]
Chr17:74349618 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.724C>T (p.Arg242Cys) single nucleotide variant not specified [RCV004270864] Chr17:76328774 [GRCh38]
Chr17:74324855 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.616T>C (p.Ser206Pro) single nucleotide variant not specified [RCV004322168] Chr17:76330062 [GRCh38]
Chr17:74326143 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.861T>G (p.Ile287Met) single nucleotide variant not specified [RCV004267533] Chr17:76313008 [GRCh38]
Chr17:74309089 [GRCh37]
Chr17:17q25.1		 uncertain significance
GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3 copy number gain not provided [RCV003485165] Chr17:74056941..74313663 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.32C>T (p.Pro11Leu) single nucleotide variant not specified [RCV004507594] Chr17:76353672 [GRCh38]
Chr17:74349753 [GRCh37]
Chr17:17q25.1		 likely benign
NM_002766.3(PRPSAP1):c.414G>T (p.Lys138Asn) single nucleotide variant not specified [RCV004507595] Chr17:76332312 [GRCh38]
Chr17:74328393 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.142T>G (p.Cys48Gly) single nucleotide variant not specified [RCV004507593] Chr17:76353562 [GRCh38]
Chr17:74349643 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.458A>G (p.Lys153Arg) single nucleotide variant not specified [RCV004507596] Chr17:76332268 [GRCh38]
Chr17:74328349 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.971G>T (p.Arg324Leu) single nucleotide variant not specified [RCV004848815] Chr17:76312898 [GRCh38]
Chr17:74308979 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.739A>G (p.Met247Val) single nucleotide variant not specified [RCV004507597] Chr17:76328759 [GRCh38]
Chr17:74324840 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.385C>G (p.Pro129Ala) single nucleotide variant not specified [RCV004848813] Chr17:76332341 [GRCh38]
Chr17:74328422 [GRCh37]
Chr17:17q25.1		 uncertain significance
NM_002766.3(PRPSAP1):c.997G>A (p.Glu333Lys) single nucleotide variant not specified [RCV004848814] Chr17:76312872 [GRCh38]
Chr17:74308953 [GRCh37]
Chr17:17q25.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2326
Count of miRNA genes:990
Interacting mature miRNAs:1198
Transcripts:ENST00000324684, ENST00000423915, ENST00000435555, ENST00000436498, ENST00000442767, ENST00000446526, ENST00000472686, ENST00000488339, ENST00000494662, ENST00000586137, ENST00000588364, ENST00000592474
Prediction methods:Miranda, Pita, 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
597417275GWAS1513349_Hgout QTL GWAS1513349 (human)3e-10joint integrity trait (VT:0010548)177635198676351987Human
597081650GWAS1177724_Hidiopathic osteonecrosis of the femoral head QTL GWAS1177724 (human)0.000008hindlimb integrity trait (VT:0010563)177632752276327523Human
597172734GWAS1268808_Hphosphoribosyl pyrophosphate synthase-associated protein 1 measurement QTL GWAS1268808 (human)1e-18phosphoribosyl pyrophosphate synthase-associated protein 1 measurement177633898876338989Human
597172750GWAS1268824_Hsphingosine kinase 1 measurement QTL GWAS1268824 (human)7e-17sphingosine kinase 1 measurement177632297676322977Human
597120271GWAS1216345_Hurate measurement QTL GWAS1216345 (human)1e-11urate measurementblood uric acid level (CMO:0000501)177631170176311702Human
597247728GWAS1343802_Hplatelet-to-lymphocyte ratio QTL GWAS1343802 (human)5e-11platelet quantity (VT:0003179)177633340276333403Human
597314353GWAS1410427_Huric acid measurement QTL GWAS1410427 (human)1e-15blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)177631235276312353Human


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 2438 2788 2251 4969 1726 2350 5 624 1950 464 2269 7300 6467 53 3731 1 851 1742 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI289298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D61391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB031565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324684   ⟹   ENSP00000314973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,310,934 - 76,354,198 (-)Ensembl
Ensembl Acc Id: ENST00000423915   ⟹   ENSP00000409190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,330,552 - 76,384,521 (-)Ensembl
Ensembl Acc Id: ENST00000435555   ⟹   ENSP00000392838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,312,870 - 76,354,929 (-)Ensembl
Ensembl Acc Id: ENST00000436498   ⟹   ENSP00000387494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,328,717 - 76,353,452 (-)Ensembl
Ensembl Acc Id: ENST00000442767   ⟹   ENSP00000402126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,332,287 - 76,384,484 (-)Ensembl
Ensembl Acc Id: ENST00000446526   ⟹   ENSP00000414624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,309,478 - 76,353,916 (-)Ensembl
Ensembl Acc Id: ENST00000472686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,313,601 - 76,328,986 (-)Ensembl
Ensembl Acc Id: ENST00000488339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,312,793 - 76,328,864 (-)Ensembl
Ensembl Acc Id: ENST00000494662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,330,483 - 76,353,628 (-)Ensembl
Ensembl Acc Id: ENST00000586137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,313,824 - 76,330,301 (-)Ensembl
Ensembl Acc Id: ENST00000588364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,311,386 - 76,313,740 (-)Ensembl
Ensembl Acc Id: ENST00000592474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,312,793 - 76,314,690 (-)Ensembl
RefSeq Acc Id: NM_001330503   ⟹   NP_001317432
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,309,478 - 76,353,916 (-)NCBI
T2T-CHM13v2.01777,206,033 - 77,250,484 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366236   ⟹   NP_001353165
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,309,478 - 76,354,198 (-)NCBI
T2T-CHM13v2.01777,206,033 - 77,250,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002766   ⟹   NP_002757
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,309,478 - 76,353,916 (-)NCBI
GRCh371774,306,868 - 74,379,970 (-)NCBI
Build 361771,818,610 - 71,861,526 (-)NCBI Archive
Celera1770,901,207 - 70,943,527 (-)RGD
HuRef1769,735,400 - 69,778,716 (-)ENTREZGENE
CHM1_11774,371,766 - 74,415,154 (-)NCBI
T2T-CHM13v2.01777,206,033 - 77,250,484 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008484863
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,209,480 - 77,250,484 (-)NCBI
RefSeq Acc Id: XR_008484864
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,209,480 - 77,250,484 (-)NCBI
RefSeq Acc Id: NP_002757   ⟸   NM_002766
- Peptide Label: isoform 1
- UniProtKB: Q96H06 (UniProtKB/Swiss-Prot),   B2R6M4 (UniProtKB/Swiss-Prot),   Q14558 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317432   ⟸   NM_001330503
- Peptide Label: isoform 2
- UniProtKB: B4DP31 (UniProtKB/TrEMBL),   C9J168 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353165   ⟸   NM_001366236
- Peptide Label: isoform 2
- UniProtKB: B4DP31 (UniProtKB/TrEMBL),   C9J168 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000409190   ⟸   ENST00000423915
Ensembl Acc Id: ENSP00000314973   ⟸   ENST00000324684
Ensembl Acc Id: ENSP00000402126   ⟸   ENST00000442767
Ensembl Acc Id: ENSP00000414624   ⟸   ENST00000446526
Ensembl Acc Id: ENSP00000392838   ⟸   ENST00000435555
Ensembl Acc Id: ENSP00000387494   ⟸   ENST00000436498
Protein Domains
Ribose-phosphate pyrophosphokinase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14558-F1-model_v2 AlphaFold Q14558 1-356 view protein structure

Promoters
RGD ID:6794447
Promoter ID:HG_KWN:27166
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:ENST00000324684,   NM_002766,   OTTHUMT00000342481,   OTTHUMT00000342485,   OTTHUMT00000342486
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,861,491 - 71,862,782 (-)MPROMDB
RGD ID:7236399
Promoter ID:EPDNEW_H23945
Type:initiation region
Name:PRPSAP1_1
Description:phosphoribosyl pyrophosphate synthetase associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23946  EPDNEW_H23949  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,353,916 - 76,353,976EPDNEW
RGD ID:7236401
Promoter ID:EPDNEW_H23946
Type:initiation region
Name:PRPSAP1_3
Description:phosphoribosyl pyrophosphate synthetase associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23945  EPDNEW_H23949  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,354,198 - 76,354,258EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9466 AgrOrtholog
COSMIC PRPSAP1 COSMIC
Ensembl Genes ENSG00000161542 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324684 ENTREZGENE
  ENST00000446526 ENTREZGENE
  ENST00000446526.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.2020 UniProtKB/Swiss-Prot
GTEx ENSG00000161542 GTEx
HGNC ID HGNC:9466 ENTREZGENE
Human Proteome Map PRPSAP1 Human Proteome Map
InterPro Pribosyltran_N UniProtKB/Swiss-Prot
  PRTase-like UniProtKB/Swiss-Prot
  Rib-P_diPkinase UniProtKB/Swiss-Prot
KEGG Report hsa:5635 UniProtKB/Swiss-Prot
NCBI Gene 5635 ENTREZGENE
OMIM 601249 OMIM
PANTHER PHOSPHORIBOSYL PYROPHOSPHATE SYNTHASE-ASSOCIATED PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR10210 UniProtKB/Swiss-Prot
Pfam Pribosyl_synth UniProtKB/Swiss-Prot
  Pribosyltran_N UniProtKB/Swiss-Prot
PharmGKB PA33821 PharmGKB
SMART Pribosyltran_N UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53271 UniProtKB/Swiss-Prot
UniProt B2R6M4 ENTREZGENE
  B4DP31 ENTREZGENE, UniProtKB/TrEMBL
  C9J168 ENTREZGENE, UniProtKB/TrEMBL
  C9JKT9_HUMAN UniProtKB/TrEMBL
  C9JNQ3_HUMAN UniProtKB/TrEMBL
  C9JUN4_HUMAN UniProtKB/TrEMBL
  KPRA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96H06 ENTREZGENE
UniProt Secondary B2R6M4 UniProtKB/Swiss-Prot
  Q96H06 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 PRPSAP1  phosphoribosyl pyrophosphate synthetase associated protein 1    phosphoribosyl pyrophosphate synthetase-associated protein 1  Symbol and/or name change 5135510 APPROVED