(Q425485)

English

CPS1

protein-coding gene in the species Homo sapiens

PHN
carbamoyl-phosphate synthase 1
CPSASE1
GATD6

In more languages

default for all languages

No label defined

No description defined

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000021826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

Carbamoyl-phosphate synthase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method or standard

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_557&ncbiId=1373

http://www.genome.gov/gwastudies/index.cfm?gene=CPS1

New loci associated with kidney function and chronic kidney disease

25 May 2020

carbamoyl phosphate synthetase I deficiency disease

5 references

UniProt protein ID

13 August 2019

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T18:14:32

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000021826/EFO_0007193

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 2

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

210477682

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

211342406

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

210679107

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

211543831

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

cytogenetic location

2q34

1 reference

15 May 2022

68208

1 reference

15 May 2022

2 references

HomoloGene build68

68208

Orthologous MAtrix

https://omabrowser.org/oma/vps/P31327/

2 references

HomoloGene build68

68208

Orthologous MAtrix

https://omabrowser.org/oma/vps/P31327/

1 reference

HomoloGene build68

68208

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

right lobe of liver

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

buccal mucosa cell

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

mucosa of ileum

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

secondary oocyte

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

internal globus pallidus

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

http://identifiers.org/ncbigene/1373

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

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000021826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

Ensembl transcript ID

ENST00000233072

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000430249

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000451903

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000467353

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000470791

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000479988

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000497121

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000497163

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000645825

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673510

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000671984

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673630

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000674074

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673711

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673698

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

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

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Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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