(Q18030814)

English

PRPS1

protein-coding gene in the species Homo sapiens

ARTS
CMTX5
DFN2
DFNX1
PPRibP
PRS-I
PRSI
phosphoribosyl pyrophosphate synthetase 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000147224

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

Phosphoribosyl pyrophosphate synthetase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

Charcot-Marie-Tooth disease X-linked recessive 5

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010699

based on heuristic

inferred from an Open Targets association score over 0.7

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010533

based on heuristic

inferred from an Open Targets association score over 0.7

phosphoribosylpyrophosphate synthetase superactivity

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000147224/MONDO_0010395

based on heuristic

inferred from an Open Targets association score over 0.7

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

106871737

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

107628428

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

106894256

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

107651993

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

cytogenetic location

Xq22.3

1 reference

15 May 2022

68275

1 reference

15 May 2022

1 reference

HomoloGene build68

68275

1 reference

HomoloGene build68

68275

1 reference

HomoloGene build68

68275

Drosophila melanogaster

1 reference

HomoloGene build68

68275

islet of Langerhans

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

ganglionic eminence

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

prefrontal cortex

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

anterior pituitary

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

stromal cell of endometrium

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

cerebellar hemisphere

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

right lobe of liver

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

bone marrow cells

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000147224

http://identifiers.org/ncbigene/5631

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

0 references

Ensembl gene ID

ENSG00000147224

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

Ensembl transcript ID

ENST00000372435

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000372418

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000372419

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000372428

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000645903

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000646815

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000643795

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000644642

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000645638

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000674843

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675304

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675875

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675353

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675630

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675124

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675921

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000676365

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000674525

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675046

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000676322

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675082

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000674826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000676092

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675263

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

ENST00000675720

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000147224

Google Knowledge Graph ID

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(2 entries)

ttwiki PRPS1
ukwiki PRPS1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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