Prps1 (phosphoribosyl pyrophosphate synthetase 1) - Rat Genome Database

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Gene: Prps1 (phosphoribosyl pyrophosphate synthetase 1) Mus musculus
Analyze
Symbol: Prps1
Name: phosphoribosyl pyrophosphate synthetase 1
RGD ID: 62248
MGI Page MGI
Description: Enables ribose phosphate diphosphokinase activity. Involved in 5-phosphoribose 1-diphosphate biosynthetic process and pentose-phosphate shunt. Is active in cytosol. Is expressed in central nervous system; heart; inner ear; liver; and retina. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2310010D17Rik; C76571; C76678; phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I; Pr; Prps-1; PRS-I; ribose-phosphate pyrophosphokinase 1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: Gm18890  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,357,352 - 139,376,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX139,357,362 - 139,376,889 (+)EnsemblGRCm39 Ensembl
GRCm38X140,456,603 - 140,476,140 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,456,613 - 140,476,140 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X136,991,142 - 137,010,679 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X135,802,977 - 135,822,503 (+)NCBIMGSCv36mm8
CeleraX123,716,011 - 123,735,469 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.35NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (ISO)
(Z)-3-butylidenephthalide  (ISO)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (EXP)
5-fluorouracil  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol AF  (ISO)
Bisphenol B  (ISO)
butan-1-ol  (ISO)
butanal  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
chloroacetaldehyde  (ISO)
cidofovir anhydrous  (ISO)
clofibrate  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (ISO)
DDE  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (EXP)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
enzyme inhibitor  (ISO)
ethanol  (EXP,ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP)
formaldehyde  (ISO)
genistein  (ISO)
ivermectin  (ISO)
lead diacetate  (ISO)
methidathion  (EXP)
nefazodone  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (ISO)
pirinixic acid  (ISO)
piroxicam  (ISO)
rimonabant  (EXP)
SB 431542  (ISO)
sodium arsenite  (ISO)
sunitinib  (ISO)
tamibarotene  (ISO)
tamoxifen  (EXP)
tetrachloromethane  (EXP,ISO)
thapsigargin  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trimellitic anhydride  (EXP)
tunicamycin  (ISO)
urethane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

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

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Almoguera B, etal., Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
2. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. Becker MA, etal., J Clin Invest. 1995 Nov;96(5):2133-41.
3. Pediatric neurological syndromes and inborn errors of purine metabolism. Camici M, etal., Neurochem Int. 2010 Feb;56(3):367-78. Epub 2009 Dec 11.
4. Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. Gandia M, etal., Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
5. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
6. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, etal., Development 2000 Apr;127(8):1737-49.
7. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
8. MGDs mouse GO annotations MGD data from the GO Consortium
9. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. Mouse MP Annotation Import Pipeline RGD automated import pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2537655   PMID:7757076   PMID:7849396   PMID:7873890   PMID:8661129   PMID:9170106   PMID:10349636   PMID:10922068   PMID:11042159   PMID:11076861   PMID:12477932   PMID:14610273  
PMID:14681479   PMID:15782199   PMID:16141072   PMID:16141073   PMID:16602821   PMID:20021999   PMID:21267068   PMID:21677750   PMID:21873635   PMID:22645261   PMID:22792159   PMID:23136997  
PMID:24855946   PMID:26175007   PMID:26273529   PMID:27215380   PMID:27343059   PMID:27626380   PMID:28245920   PMID:30196744   PMID:30379953   PMID:30418981   PMID:30457570   PMID:30973865  
PMID:32325033   PMID:33378226   PMID:35237793   PMID:38355793  


Genomics

Comparative Map Data
Prps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,357,352 - 139,376,889 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX139,357,362 - 139,376,889 (+)EnsemblGRCm39 Ensembl
GRCm38X140,456,603 - 140,476,140 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,456,613 - 140,476,140 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X136,991,142 - 137,010,679 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X135,802,977 - 135,822,503 (+)NCBIMGSCv36mm8
CeleraX123,716,011 - 123,735,469 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.35NCBI
PRPS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X107,628,510 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX107,628,428 - 107,651,993 (+)EnsemblGRCh38hg38GRCh38
GRCh37X106,871,740 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBICelera
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
T2T-CHM13v2.0X106,065,274 - 106,087,791 (+)NCBIT2T-CHM13v2.0
Prps1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X108,920,663 - 108,942,713 (+)NCBIGRCr8
mRatBN7.2X104,132,139 - 104,154,191 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX104,132,141 - 104,154,187 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX106,261,498 - 106,283,545 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X109,760,234 - 109,782,281 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X107,316,203 - 107,337,428 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X111,798,233 - 111,820,270 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX111,798,233 - 111,820,266 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0352,779,462 - 52,801,499 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X128,249,843 - 128,271,893 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X128,323,278 - 128,345,324 (+)NCBI
Celera343,777,612 - 43,799,661 (-)NCBICelera
Cytogenetic MapXq32NCBI
Prps1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554908,303,775 - 8,330,713 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554908,303,775 - 8,330,713 (-)NCBIChiLan1.0ChiLan1.0
PRPS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X107,104,116 - 107,126,928 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X107,107,719 - 107,130,532 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X96,720,988 - 96,743,594 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X107,094,898 - 107,117,117 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,094,898 - 107,117,117 (+)Ensemblpanpan1.1panPan2
PRPS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,150,537 - 81,171,521 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,150,536 - 81,212,689 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,269,356 - 67,290,346 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X82,796,457 - 82,817,447 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX82,796,456 - 82,817,446 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X80,256,666 - 80,277,657 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X81,968,332 - 81,989,524 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X81,759,859 - 81,781,048 (+)NCBIUU_Cfam_GSD_1.0
Prps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X80,521,497 - 80,543,124 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364997,115,780 - 7,136,449 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364997,114,838 - 7,136,468 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,074,965 - 88,101,910 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,074,861 - 88,101,925 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X102,515,177 - 102,542,941 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,452,481 - 95,475,933 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606520,574,165 - 20,597,947 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in Prps1
536 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:503
Count of miRNA genes:352
Interacting mature miRNAs:405
Transcripts:ENSMUST00000033809, ENSMUST00000155235
Prediction methods:Microtar, 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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
13208552Wght12_mweight 12 (mouse)X94043606149782996Mouse
1558900Bw3_mbody weight QTL 3 (mouse)Not determinedX133540040165298595Mouse
13208556Lgth14_mbody length 14 (mouse)X94043606149782996Mouse
13824980Ferq1_mgenetic fertility QTL 1 (mouse)X54045360148782996Mouse
25314309Syncl5_msynaptonemal complex length 5 (mouse)X121909697152582996Mouse
13824981Svwq2_mseminal vesicle weight QTL 2 (mouse)X128900749153782996Mouse
1301209Cia19_mcollagen induced arthritis 19 (mouse)Not determinedX120993165160213038Mouse
10412164Cmv2_mcytomegalovirus resistance 2 (mouse)Not determinedX125685149159685269Mouse
1357823Spha3_msperm head anomaly 3 (mouse)Not determinedX102055848162758941Mouse
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7226295150107038Mouse
1301276Tswt_mtestis weight (mouse)Not determinedX138376411150789338Mouse

Markers in Region
RH125998  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X140,475,893 - 140,476,111UniSTSGRCm38
MGSCv37X137,010,432 - 137,010,650UniSTSGRCm37
CeleraX123,735,222 - 123,735,440UniSTS
Cytogenetic MapXF1-F2UniSTS
Whitehead/MRC_RHX1622.44UniSTS
RH126017  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X140,473,802 - 140,475,280UniSTSGRCm38
MGSCv37X137,008,341 - 137,009,819UniSTSGRCm37
CeleraX123,733,131 - 123,734,609UniSTS
Cytogenetic MapXF1-F2UniSTS
Whitehead/MRC_RH12579.93UniSTS
PPP6C  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X140,473,868 - 140,475,259UniSTSGRCm38
MGSCv37X137,008,407 - 137,009,798UniSTSGRCm37
CeleraX123,733,197 - 123,734,588UniSTS
Cytogenetic MapXF1-F2UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000033809   ⟹   ENSMUSP00000033809
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX139,357,362 - 139,376,889 (+)Ensembl
GRCm38.p6 EnsemblX140,456,613 - 140,476,140 (+)Ensembl
Ensembl Acc Id: ENSMUST00000155235
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX139,357,362 - 139,366,191 (+)Ensembl
GRCm38.p6 EnsemblX140,456,613 - 140,465,442 (+)Ensembl
RefSeq Acc Id: NM_021463   ⟹   NP_067438
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X139,357,352 - 139,376,889 (+)NCBI
GRCm38X140,456,603 - 140,476,140 (+)ENTREZGENE
MGSCv37X136,991,142 - 137,010,679 (+)RGD
CeleraX123,716,011 - 123,735,469 (+)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NP_067438   ⟸   NM_021463
- UniProtKB: Q76MX9 (UniProtKB/Swiss-Prot),   Q9D7G0 (UniProtKB/Swiss-Prot),   Q3TI27 (UniProtKB/TrEMBL),   Q3UPD5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000033809   ⟸   ENSMUST00000033809
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9D7G0-F1-model_v2 AlphaFold Q9D7G0 1-318 view protein structure

Promoters
RGD ID:6846126
Promoter ID:MM_KWN:62072
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000045356,   OTTMUST00000045357
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X136,990,919 - 136,991,419 (+)MPROMDB
RGD ID:13681504
Promoter ID:EPDNEW_M24901
Type:multiple initiation site
Name:Prps1_1
Description:Mus musculus phosphoribosyl pyrophosphate synthetase 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X140,456,625 - 140,456,685EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:97775 AgrOrtholog
Ensembl Genes ENSMUSG00000031432 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000033809 ENTREZGENE
  ENSMUST00000033809.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.2020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro PRib_PP_synth_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRibTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib-P_diPkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib-P_diPkinase_bac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:19139 UniProtKB/Swiss-Prot
MGD MGI:97775 ENTREZGENE
NCBI Gene 19139 ENTREZGENE
PANTHER PTHR10210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSE-PHOSPHATE PYROPHOSPHOKINASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pribosyl_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PRPS1 RGD
PhenoGen Prps1 PhenoGen
PROSITE PRPP_SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Pribosyltran_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt PRPS1_MOUSE UniProtKB/Swiss-Prot
  Q3TI27 ENTREZGENE, UniProtKB/TrEMBL
  Q3UPD5 ENTREZGENE, UniProtKB/TrEMBL
  Q76MX9 ENTREZGENE
  Q9D7G0 ENTREZGENE
UniProt Secondary Q76MX9 UniProtKB/Swiss-Prot