(Q18030192)

English

NPHP1

protein-coding gene in the species Homo sapiens

JBTS4
NPH1
SLSN1
nephrocystin 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000144061

Protein NPHP1 PDB 1s1n.png
861 × 644; 159 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

1 reference

6 July 2017

UniProt protein ID

genetic association

Senior-Loken syndrome

1 reference

UniProt protein ID

13 August 2019

Joubert syndrome with renal defect

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000144061/MONDO_0012308

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

ENSG00000144061

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

110122311

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

110879888

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

110205066

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

110962643

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

cytogenetic location

2q13

1 reference

15 May 2022

229

1 reference

15 May 2022

Gene Atlas image

PBB GE NPHP1 206285 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

229

1 reference

HomoloGene build68

229

1 reference

HomoloGene build68

229

right uterine tube

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

bronchial epithelial cell

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

anterior pituitary

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

gastrocnemius muscle

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

Achilles tendon

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

right lobe of thyroid gland

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

left lobe of thyroid gland

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

left uterine tube

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000144061

http://identifiers.org/ncbigene/4867

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

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000144061

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

Ensembl transcript ID

ENST00000496524

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000316534

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000355301

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000393272

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000417665

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000418527

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000422492

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000445609

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000449600

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000461707

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000493051

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000675632

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000674677

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000675294

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000675752

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000676053

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000676165

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000676028

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000676258

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000675356

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000676091

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

ENST00000675067

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000144061

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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