(Q14916168)

English

GCH1

protein-coding gene in the species Homo sapiens

DYT14
DYT5
DYT5a
GCH
GTP-CH-1
GTPCH1
HPABH4B
GTP cyclohydrolase 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000131979

Protein GCH1 PDB 1fb1.png
930 × 939; 590 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

GTP cyclohydrolase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=2643

http://www.genome.gov/gwastudies/index.cfm?gene=GCH1

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population

25 May 2020

rheumatoid arthritis

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_7148&ncbiId=2643

http://www.genome.gov/gwastudies/index.cfm?gene=GCH1

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

25 May 2020

GTP cyclohydrolase I deficiency

1 reference

UniProt protein ID

13 August 2019

human chromosome 14

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

54842008

human chromosome 14

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

55308726

human chromosome 14

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

55369570

human chromosome 14

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

54902826

human chromosome 14

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

cytogenetic location

14q22.2

1 reference

15 May 2022

132

1 reference

15 May 2022

Gene Atlas image

PBB GE GCH1 204224 s at fs.png
732 × 530; 10 KB

0 references

1 reference

HomoloGene build68

132

Saccharomyces cerevisiae S288c

1 reference

HomoloGene build68

132

1 reference

HomoloGene build68

132

Caenorhabditis elegans

1 reference

HomoloGene build68

132

1 reference

HomoloGene build68

132

Drosophila melanogaster

1 reference

HomoloGene build68

132

secondary oocyte

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

palpebral conjunctiva

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

right lobe of liver

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

metanephric glomerulus

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

retinal pigment epithelium

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131979

http://identifiers.org/ncbigene/2643

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

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000131979

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

Ensembl transcript ID

ENST00000254299

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

ENST00000395514

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

ENST00000395521

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

ENST00000491895

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

ENST00000536224

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

ENST00000543643

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131979

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(0 entries)

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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