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Gene: PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1) Homo sapiens

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Symbol:

PRPS1L1

Name:

phosphoribosyl pyrophosphate synthetase 1 like 1

RGD ID:

1314887

HGNC Page

HGNC:9463

Description:

Predicted to enable ATP binding activity; protein homodimerization activity; and ribose phosphate diphosphokinase activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be part of ribose phosphate diphosphokinase complex. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

phosphoribosyl pyrophosphate synthase 1-like 1; phosphoribosyl pyrophosphate synthase III; phosphoribosyl pyrophosphate synthetase 1-like 1; phosphoribosylpyrophosphate synthetase subunit III; PRPS1; PRPS1-like 1; PRPS3; PRPSL; PRS-III; ribose-phosphate diphosphokinase catalytic chain III; ribose-phosphate pyrophosphokinase 3; ribose-phosphate pyrophosphokinase III

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	18,026,770 - 18,027,846 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	18,026,770 - 18,027,846 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	18,066,393 - 18,067,469 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	18,032,922 - 18,034,011 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	18,046,381 - 18,047,465 (-)	NCBI		Celera
Cytogenetic Map	7	p21.1	NCBI
HuRef	7	17,951,884 - 17,952,968 (-)	NCBI		HuRef
CHM1_1	7	18,067,488 - 18,068,577 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	18,156,457 - 18,157,533 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	18,119,717 - 18,120,801 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

pleomorphic xanthoastrocytoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

bisphenol F (EXP)

CGP 52608 (EXP)

copper(II) sulfate (EXP)

dexamethasone (EXP)

indometacin (EXP)

lipopolysaccharide (EXP)

paracetamol (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

tamoxifen (EXP)

trichloroethene (ISO)

urethane (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

5-phosphoribose 1-diphosphate biosynthetic process (IBA,IEA)

male gonad development (IEA,ISO)

nucleotide biosynthetic process (IEA)

purine nucleotide biosynthetic process (IBA)

ribonucleoside monophosphate biosynthetic process (IEA)

Cellular Component

cytoplasm (IBA)

ribose phosphate diphosphokinase complex (IBA)

Molecular Function

ATP binding (IEA,ISS)

kinase activity (IEA)

magnesium ion binding (IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

protein homodimerization activity (ISS)

ribose phosphate diphosphokinase activity (IBA,IEA,ISS,NAS)

transferase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Pleomorphic xanthoastrocytoma (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Pediatric neurological syndromes and inborn errors of purine metabolism.	Camici M, etal., Neurochem Int. 2010 Feb;56(3):367-78. Epub 2009 Dec 11.
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1314091	PMID:2168892	PMID:11181995	PMID:12477932	PMID:20811636	PMID:21145461	PMID:21734401	PMID:21873635	PMID:23969696	PMID:26186194	PMID:27432908	PMID:27609421
PMID:28514442	PMID:28712289	PMID:30554943	PMID:31091453	PMID:31586073	PMID:32322062	PMID:33306668	PMID:33567341	PMID:33961781	PMID:34709727	PMID:35271311	PMID:35575683
PMID:36042349	PMID:36215168

Genomics

Comparative Map Data

PRPS1L1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	18,026,770 - 18,027,846 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	18,026,770 - 18,027,846 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	18,066,393 - 18,067,469 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	18,032,922 - 18,034,011 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	18,046,381 - 18,047,465 (-)	NCBI		Celera
Cytogenetic Map	7	p21.1	NCBI
HuRef	7	17,951,884 - 17,952,968 (-)	NCBI		HuRef
CHM1_1	7	18,067,488 - 18,068,577 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	18,156,457 - 18,157,533 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	18,119,717 - 18,120,801 (-)	NCBI

Prps1l1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	35,034,760 - 35,036,435 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	35,034,760 - 35,036,435 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	34,984,761 - 34,986,436 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	34,984,761 - 34,986,436 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	35,669,433 - 35,671,108 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	35,569,833 - 35,571,508 (+)	NCBI		MGSCv36	mm8
Celera	12	36,410,649 - 36,412,324 (+)	NCBI		Celera
Cytogenetic Map	12	A3	NCBI
cM Map	12	15.64	NCBI

Prps1l1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	57,412,331 - 57,414,021 (+)	NCBI		GRCr8
mRatBN7.2	6	51,684,960 - 51,686,650 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	51,684,948 - 51,687,291 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	51,969,122 - 51,970,812 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	52,284,060 - 52,285,750 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	51,740,499 - 51,742,189 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	54,417,903 - 54,419,593 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	54,417,903 - 54,419,593 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	64,038,717 - 64,040,407 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	53,652,048 - 53,653,738 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	53,655,288 - 53,656,268 (+)	NCBI
Celera	6	50,843,329 - 50,845,019 (+)	NCBI		Celera
Cytogenetic Map	6	q16	NCBI

Prps1l1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955410	20,987,289 - 20,988,852 (-)	NCBI	ChiLan1.0	ChiLan1.0

PRPS1L1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	22,859,141 - 22,860,249 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	71,183,865 - 71,184,973 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	18,680,579 - 18,681,655 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	18,006,809 - 18,007,885 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

Prps1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	76,657,634 - 76,658,744 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936546	4,332,773 - 4,333,738 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PRPS1L1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	87,163,252 - 87,164,208 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	87,161,863 - 87,164,314 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	96,258,718 - 96,259,873 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PRPS1L1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	40,120,251 - 40,121,975 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	40,120,963 - 40,121,919 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	64,405,873 - 64,407,128 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Prps1l1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624739	12,406,278 - 12,407,234 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624739	12,406,148 - 12,407,861 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PRPS1L1
30 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]\|See cases [RCV000052280]	Chr7:8274775..21988311 [GRCh38] Chr7:8314405..22027929 [GRCh37] Chr7:8280930..21994454 [NCBI36] Chr7:7p21.3-15.3	pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	copy number loss	See cases [RCV000052281]	Chr7:9975653..19356878 [GRCh38] Chr7:10015280..19396501 [GRCh37] Chr7:9981805..19363026 [NCBI36] Chr7:7p21.3-21.1	pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]\|See cases [RCV000052288]	Chr7:14959516..19467349 [GRCh38] Chr7:14999141..19506972 [GRCh37] Chr7:14965666..19473497 [NCBI36] Chr7:7p21.2-21.1	pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	copy number loss	See cases [RCV000052289]	Chr7:15133711..19642829 [GRCh38] Chr7:15173336..19682452 [GRCh37] Chr7:15139861..19648977 [NCBI36] Chr7:7p21.2-21.1	pathogenic
GRCh38/hg38 7p21.1(chr7:17930595-18209019)x1	copy number loss	See cases [RCV000052302]	Chr7:17930595..18209019 [GRCh38] Chr7:17970218..18248642 [GRCh37] Chr7:17936743..18215167 [NCBI36] Chr7:7p21.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3	copy number gain	See cases [RCV000053528]	Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	copy number gain	See cases [RCV000053531]	Chr7:16234212..26167278 [GRCh38] Chr7:16273837..26206898 [GRCh37] Chr7:16240362..26173423 [NCBI36] Chr7:7p21.2-15.2	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	copy number gain	See cases [RCV000136557]	Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	copy number loss	See cases [RCV000136932]	Chr7:13966197..18321354 [GRCh38] Chr7:14005822..18360977 [GRCh37] Chr7:13972347..18327502 [NCBI36] Chr7:7p21.2-21.1	pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	copy number gain	See cases [RCV000136649]	Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2	pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	copy number loss	See cases [RCV000137236]	Chr7:16121516..20607899 [GRCh38] Chr7:16161141..20647522 [GRCh37] Chr7:16127666..20614047 [NCBI36] Chr7:7p21.2-21.1	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	copy number gain	See cases [RCV000137824]	Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	copy number loss	See cases [RCV000137924]	Chr7:15533812..24851432 [GRCh38] Chr7:15573437..24891051 [GRCh37] Chr7:15539962..24857576 [NCBI36] Chr7:7p21.2-15.3	pathogenic
GRCh38/hg38 7p21.1(chr7:17847049-18321295)x3	copy number gain	See cases [RCV000140730]	Chr7:17847049..18321295 [GRCh38] Chr7:17886672..18360918 [GRCh37] Chr7:17853197..18327443 [NCBI36] Chr7:7p21.1	benign
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	copy number gain	See cases [RCV000143060]	Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	copy number loss	See cases [RCV000142708]	Chr7:10610069..25760560 [GRCh38] Chr7:10649696..25800180 [GRCh37] Chr7:10616221..25766705 [NCBI36] Chr7:7p21.3-15.2	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	copy number gain	See cases [RCV000143586]	Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	copy number gain	See cases [RCV000446478]	Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	copy number gain	See cases [RCV000512091]	Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1	pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	copy number gain	See cases [RCV000510652]	Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	copy number gain	See cases [RCV000510275]	Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3	pathogenic
GRCh37/hg19 7p21.1(chr7:17099056-18220736)x3	copy number gain	See cases [RCV000510538]	Chr7:17099056..18220736 [GRCh37] Chr7:7p21.1	uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	copy number loss	See cases [RCV000511411]	Chr7:14675063..18907030 [GRCh37] Chr7:7p21.2-21.1	likely pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	copy number gain	See cases [RCV000511575]	Chr7:7660104..18400293 [GRCh37] Chr7:7p21.3-21.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_175886.3(PRPS1L1):c.658G>C (p.Asp220His)	single nucleotide variant	not specified [RCV004302605]	Chr7:18027125 [GRCh38] Chr7:18066748 [GRCh37] Chr7:7p21.1	uncertain significance
GRCh37/hg19 7p21.1(chr7:17008842-18304130)x3	copy number gain	not provided [RCV000682882]	Chr7:17008842..18304130 [GRCh37] Chr7:7p21.1	uncertain significance
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	copy number gain	not provided [RCV000682908]	Chr7:14544155..21719929 [GRCh37] Chr7:7p21.2-15.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p21.1(chr7:17151747-18869529)x3	copy number gain	not provided [RCV000848214]	Chr7:17151747..18869529 [GRCh37] Chr7:7p21.1	uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	copy number gain	not provided [RCV000848100]	Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1	pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	copy number loss	not provided [RCV001005911]	Chr7:13886653..20267202 [GRCh37] Chr7:7p21.2-21.1	pathogenic
GRCh37/hg19 7p21.1(chr7:17865965-18361645)x3	copy number gain	not provided [RCV001258942]	Chr7:17865965..18361645 [GRCh37] Chr7:7p21.1	likely benign
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	copy number loss	not provided [RCV001259423]	Chr7:16279316..18429845 [GRCh37] Chr7:7p21.2-21.1	uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	copy number loss	Saethre-Chotzen syndrome [RCV001263216]	Chr7:14470668..20385165 [GRCh37] Chr7:7p21.2-21.1	pathogenic
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	copy number loss	not specified [RCV002053667]	Chr7:9358316..20982082 [GRCh37] Chr7:7p21.3-15.3	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	copy number gain	not specified [RCV002053668]	Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2	likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	copy number gain	See cases [RCV002287567]	Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1	pathogenic
NM_175886.3(PRPS1L1):c.379A>G (p.Met127Val)	single nucleotide variant	not specified [RCV004088320]	Chr7:18027404 [GRCh38] Chr7:18067027 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.163A>G (p.Ile55Val)	single nucleotide variant	not specified [RCV004189836]	Chr7:18027620 [GRCh38] Chr7:18067243 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.352A>C (p.Ile118Leu)	single nucleotide variant	not specified [RCV004086883]	Chr7:18027431 [GRCh38] Chr7:18067054 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.524C>A (p.Ala175Asp)	single nucleotide variant	not specified [RCV004097130]	Chr7:18027259 [GRCh38] Chr7:18066882 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.836A>G (p.Glu279Gly)	single nucleotide variant	not specified [RCV004162064]	Chr7:18026947 [GRCh38] Chr7:18066570 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.539C>G (p.Ser180Cys)	single nucleotide variant	not specified [RCV004169734]	Chr7:18027244 [GRCh38] Chr7:18066867 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.701A>C (p.Asp234Ala)	single nucleotide variant	not specified [RCV004243909]	Chr7:18027082 [GRCh38] Chr7:18066705 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.384C>G (p.Asp128Glu)	single nucleotide variant	not specified [RCV004092880]	Chr7:18027399 [GRCh38] Chr7:18067022 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.444G>C (p.Glu148Asp)	single nucleotide variant	not specified [RCV004180057]	Chr7:18027339 [GRCh38] Chr7:18066962 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.133G>A (p.Asp45Asn)	single nucleotide variant	not specified [RCV004208828]	Chr7:18027650 [GRCh38] Chr7:18067273 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.902G>A (p.Arg301Lys)	single nucleotide variant	not specified [RCV004256699]	Chr7:18026881 [GRCh38] Chr7:18066504 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.371T>C (p.Ile124Thr)	single nucleotide variant	not specified [RCV004268830]	Chr7:18027412 [GRCh38] Chr7:18067035 [GRCh37] Chr7:7p21.1	uncertain significance
GRCh37/hg19 7p21.1(chr7:17930686-19059254)x1	copy number loss	Syndromic craniosynostosis [RCV003481512]	Chr7:17930686..19059254 [GRCh37] Chr7:7p21.1	likely pathogenic
GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	copy number loss	not specified [RCV003986690]	Chr7:13107394..27514163 [GRCh37] Chr7:7p21.3-15.2	pathogenic
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	copy number loss	not specified [RCV003986712]	Chr7:17736012..30663423 [GRCh37] Chr7:7p21.1-14.3	pathogenic
NM_175886.3(PRPS1L1):c.87G>C (p.Lys29Asn)	single nucleotide variant	not specified [RCV004507591]	Chr7:18027696 [GRCh38] Chr7:18067319 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.851G>T (p.Cys284Phe)	single nucleotide variant	not specified [RCV004507590]	Chr7:18026932 [GRCh38] Chr7:18066555 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.850T>A (p.Cys284Ser)	single nucleotide variant	not specified [RCV004507589]	Chr7:18026933 [GRCh38] Chr7:18066556 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.694G>A (p.Ala232Thr)	single nucleotide variant	not specified [RCV004507587]	Chr7:18027089 [GRCh38] Chr7:18066712 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.65G>T (p.Arg22Leu)	single nucleotide variant	not specified [RCV004507586]	Chr7:18027718 [GRCh38] Chr7:18067341 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.107G>A (p.Ser36Asn)	single nucleotide variant	not specified [RCV004648871]	Chr7:18027676 [GRCh38] Chr7:18067299 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.449C>T (p.Thr150Ile)	single nucleotide variant	not specified [RCV004648873]	Chr7:18027334 [GRCh38] Chr7:18066957 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.776C>T (p.Ser259Phe)	single nucleotide variant	not specified [RCV004660393]	Chr7:18027007 [GRCh38] Chr7:18066630 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.319A>G (p.Ile107Val)	single nucleotide variant	not specified [RCV004660391]	Chr7:18027464 [GRCh38] Chr7:18067087 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.242C>T (p.Ser81Leu)	single nucleotide variant	not specified [RCV004648872]	Chr7:18027541 [GRCh38] Chr7:18067164 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.599A>G (p.Asn200Ser)	single nucleotide variant	not specified [RCV004848812]	Chr7:18027184 [GRCh38] Chr7:18066807 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.869T>C (p.Ile290Thr)	single nucleotide variant	not specified [RCV004199353]	Chr7:18026914 [GRCh38] Chr7:18066537 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.755T>G (p.Ile252Ser)	single nucleotide variant	not specified [RCV004507588]	Chr7:18027028 [GRCh38] Chr7:18066651 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.589A>G (p.Lys197Glu)	single nucleotide variant	not specified [RCV004507585]	Chr7:18027194 [GRCh38] Chr7:18066817 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.433T>G (p.Leu145Val)	single nucleotide variant	not specified [RCV004507584]	Chr7:18027350 [GRCh38] Chr7:18066973 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.353T>C (p.Ile118Thr)	single nucleotide variant	not specified [RCV004848810]	Chr7:18027430 [GRCh38] Chr7:18067053 [GRCh37] Chr7:7p21.1	uncertain significance
NM_175886.3(PRPS1L1):c.746C>T (p.Thr249Ile)	single nucleotide variant	not specified [RCV004848811]	Chr7:18027037 [GRCh38] Chr7:18066660 [GRCh37] Chr7:7p21.1	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	102
Count of miRNA genes:	95
Interacting mature miRNAs:	95
Transcripts:	ENST00000506618
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1643402	BMD2_H	Bone mineral density QTL 2 (human)	2.69	0.0002	Bone mineral density		7	1	22435431	Human
1643391	BW322_H	Body weight QTL 322 (human)	2.69	0.0002	Body fat amount		7	1	22435431	Human

Markers in Region

PRPS1L1__5597

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	18,066,259 - 18,066,992	UniSTS	GRCh37
Build 36	7	18,032,784 - 18,033,517	RGD	NCBI36
Celera	7	18,046,243 - 18,046,976	RGD
HuRef	7	17,951,746 - 17,952,479	UniSTS
CRA_TCAGchr7v2	7	18,119,579 - 18,120,312	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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	renal system	reproductive system	respiratory system	sensory system
187	373	365	270	700	293	372	1	79	198	58	258	919	886	5	592	118	607	253	21

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_175886	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC080080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M57423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000506618 ⟹ ENSP00000424595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	18,026,770 - 18,027,846 (-)	Ensembl

RefSeq Acc Id:

NM_175886 ⟹ NP_787082

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	18,026,770 - 18,027,846 (-)	NCBI
GRCh37	7	18,066,397 - 18,067,486 (-)	RGD
Build 36	7	18,032,922 - 18,034,011 (-)	NCBI Archive
Celera	7	18,046,381 - 18,047,465 (-)	RGD
HuRef	7	17,951,884 - 17,952,968 (-)	RGD
CHM1_1	7	18,067,488 - 18,068,577 (-)	NCBI
T2T-CHM13v2.0	7	18,156,457 - 18,157,533 (-)	NCBI
CRA_TCAGchr7v2	7	18,119,717 - 18,120,801 (-)	ENTREZGENE

Sequence:

show sequence

ACTTCCGTTCCAGCCTCAGCGGCAGCTGGATCGCTCGACGGAGTGCCTCTGGTAGTTGGCCAAG
ACGCCGAATATCAAAATCTTCAGCGGCAGCTCCCACCAGGACTTATCCCAGAAAATTGCTGACC
GCCTGGGCCTGGAGCTAGGCAAGGTGGTGACTAAGAAATTCAGCAACCAGGAGACCTGCGTGGA
AATTGATGAGAGTGTGCGTGGAGAGGATGTCTACATCGTTCAGAGTGGTTGTGGCGAAATCAAC
GACAGTCTAATGGAGCTTTTGATCATGATTAATGCCTGCAAGATTGCTTCAGCTAGCCGAGTTA
CTGCAGTCATCCCATGCTTCCCTTATGCCCGACAGGATAAGAAGGATAAGAGCCGGTCCCCAAT
CTCTGCCAAGCTTGTTGCAAATATGCTCTCTATAGCAGGTGCGGATCATATCATCACCATGGAC
CTACATGCTTCTCAAATTCAGGGCTTTTTTGATATCCCAGTAGACAACTTGTATGCAGAGCCAA
CTGTCCTGAAGTGGATAAGGGAGAATATCCCTGAGTGGAAGAACTGCATTATTGTCTCGCCAGA
TGCTGGTGGAGCTAAAAGAGTGACCTCCATTGCAGACCAGTTGAATGTGGACTTTGCTTTGATT
CATAAAGAACGGAAGAAGGCCAATGAAGTGGACTGCATAGTGCTAGTGGGAGATGTGAATGATC
GTGTGGCTATCCTTGTAGATGACATGGCAGACACTTGTGTTACAATCTGCCTCGCAGCTGACAA
ACTTCTCTCAGCTGGAGCAACCAGAGTTTATGCTATCTTGACTCATGGAATCTTTTCTGGCCCA
GCCATTTCTCGCATCAACACTGCATGCTTTGAAGCAGTGGTAGTCACCAATACCATACCTCAAG
ATGAGAAGATGAAGCATTGCTCCAAAATACGAGTAATTGACATCTCCATGATCCTTGCAGAAGC
CATAAGGAGAACTCATAATGGGGAATCTGTTTCCTACCTGTTCAGCCATGTTCCTTTATAACAG
AATAACTTCTAGGTTATGCTATTTTAAAATAAAATAAGATTAATAAAAACAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_787082	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB59463	(Get FASTA)	NCBI Sequence Viewer
	AAH62797	(Get FASTA)	NCBI Sequence Viewer
	EAW93700	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000424595
	ENSP00000424595.3
GenBank Protein	P21108	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_787082 ⟸ NM_175886

- UniProtKB:

Q6P5P6 (UniProtKB/Swiss-Prot), P21108 (UniProtKB/Swiss-Prot), A0A0B4J207 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIDESVRGEDVYIVQSGCGEIN
DSLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRSPISAKLVANMLSIAGADHIITMD
LHASQIQGFFDIPVDNLYAEPTVLKWIRENIPEWKNCIIVSPDAGGAKRVTSIADQLNVDFALI
HKERKKANEVDCIVLVGDVNDRVAILVDDMADTCVTICLAADKLLSAGATRVYAILTHGIFSGP
AISRINTACFEAVVVTNTIPQDEKMKHCSKIRVIDISMILAEAIRRTHNGESVSYLFSHVPL

hide sequence

Ensembl Acc Id:

ENSP00000424595 ⟸ ENST00000506618

Protein Domains

Ribose-phosphate pyrophosphokinase N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P21108-F1-model_v2	AlphaFold	P21108	1-318	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9463	AgrOrtholog
COSMIC	PRPS1L1	COSMIC
Ensembl Genes	ENSG00000229937	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000506618	ENTREZGENE
	ENST00000506618.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.2020	UniProtKB/Swiss-Prot
GTEx	ENSG00000229937	GTEx
HGNC ID	HGNC:9463	ENTREZGENE
Human Proteome Map	PRPS1L1	Human Proteome Map
InterPro	PRib_PP_synth_CS	UniProtKB/Swiss-Prot
	Pribosyltran_N	UniProtKB/Swiss-Prot
	PRibTrfase_dom	UniProtKB/Swiss-Prot
	PRTase-like	UniProtKB/Swiss-Prot
	Rib-P_diPkinase	UniProtKB/Swiss-Prot
	Rib-P_diPkinase_bac	UniProtKB/Swiss-Prot
KEGG Report	hsa:221823	UniProtKB/Swiss-Prot
NCBI Gene	PRPS1L1	ENTREZGENE
OMIM	611566	OMIM
PANTHER	PTHR10210	UniProtKB/Swiss-Prot
	RIBOSE-PHOSPHATE PYROPHOSPHOKINASE 3	UniProtKB/Swiss-Prot
Pfam	Pribosyl_synth	UniProtKB/Swiss-Prot
	Pribosyltran_N	UniProtKB/Swiss-Prot
PharmGKB	PA33818	PharmGKB
PROSITE	PRPP_SYNTHASE	UniProtKB/Swiss-Prot
SMART	Pribosyltran_N	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF53271	UniProtKB/Swiss-Prot
UniProt	A0A0B4J207	ENTREZGENE, UniProtKB/TrEMBL
	P21108	ENTREZGENE, UniProtKB/Swiss-Prot
	Q6P5P6	ENTREZGENE
UniProt Secondary	Q6P5P6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-02-19	PRPS1L1	phosphoribosyl pyrophosphate synthetase 1 like 1	PRPS1L1	phosphoribosyl pyrophosphate synthetase 1-like 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar