(Q18030738)

English

PPT1

protein-coding gene in the species Homo sapiens

CLN1
INCL
PPT
palmitoyl-protein thioesterase 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000131238

PDB 1eh5 EBI.jpg
800 × 600; 47 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

Palmitoyl-protein thioesterase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

neuronal ceroid lipofuscinosis 1

4 references

UniProt protein ID

13 August 2019

14 March 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f72e2d3-f951-44da-a052-555d4f680114-2021-09-02T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000131238/MONDO_0009744

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000131238/Orphanet_228329

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 1

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

40538379

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

40072710

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

40563375

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

40097260

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

cytogenetic location

1p34.2

1 reference

15 May 2022

7488

1 reference

15 May 2022

2 references

HomoloGene build68

7488

Orthologous MAtrix

https://omabrowser.org/oma/vps/P50897/

2 references

HomoloGene build68

7488

Orthologous MAtrix

https://omabrowser.org/oma/vps/P50897/

Drosophila melanogaster

2 references

HomoloGene build68

7488

Orthologous MAtrix

https://omabrowser.org/oma/vps/P50897/

1 reference

HomoloGene build68

7488

Caenorhabditis elegans

2 references

HomoloGene build68

7488

Orthologous MAtrix

https://omabrowser.org/oma/vps/P50897/

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

lateral nuclear group of thalamus

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

retinal pigment epithelium

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

external globus pallidus

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

pars reticulata

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000131238

http://identifiers.org/ncbigene/5538

1 reference

Identifiers.org

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

Commons category

Palmitoyl protein thioesterase 1

0 references

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000131238

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

Ensembl transcript ID

ENST00000530704

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000372775

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000372779

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000433473

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000439754

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000449045

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000526547

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000527311

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000529905

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000530076

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641236

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641381

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641691

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641924

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641319

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641471

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641083

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000641548

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

ENST00000642050

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131238

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

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(5 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Palmitoyl protein thioesterase 1

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