NPHP1
type: Thing
description: protein-coding gene in the species Homo sapiens
additional property: PropertyValue
  property ID: P18
  value: Protein NPHP1 PDB 1s1n.png
additional property: PropertyValue
  property ID: P31
  value: gene
additional property: PropertyValue
  property ID: P279
  value: protein-coding gene
additional property: PropertyValue
  property ID: P351
  value: 4867
additional property: PropertyValue
  property ID: P353
  value: NPHP1
additional property: PropertyValue
  property ID: P354
  value: 7905
additional property: PropertyValue
  property ID: P492
  value: 607100
additional property: PropertyValue
  property ID: P593
  value: 229
additional property: PropertyValue
  property ID: P594
  value: ENSG00000144061
additional property: PropertyValue
  property ID: P639
  value: XM_011511244
additional property: PropertyValue
  property ID: P639
  value: NM_000272
additional property: PropertyValue
  property ID: P639
  value: NM_001128178
additional property: PropertyValue
  property ID: P644
  value: 110122311
additional property: PropertyValue
  property ID: P644
  value: 110879888
additional property: PropertyValue
  property ID: P645
  value: 110205066
additional property: PropertyValue
  property ID: P645
  value: 110962643
additional property: PropertyValue
  property ID: P684
  value: Nphp1
additional property: PropertyValue
  property ID: P684
  value: Nphp1
additional property: PropertyValue
  property ID: P684
  value: nphp1
additional property: PropertyValue
  property ID: P688
  value: Nephrocystin 1
additional property: PropertyValue
  property ID: P692
  value: PBB GE NPHP1 206285 at fs.png
additional property: PropertyValue
  property ID: P703
  value: Homo sapiens
additional property: PropertyValue
  property ID: P704
  value: ENST00000496524
additional property: PropertyValue
  property ID: P704
  value: ENST00000316534
additional property: PropertyValue
  property ID: P704
  value: ENST00000355301
additional property: PropertyValue
  property ID: P1057
  value: human chromosome 2
additional property: PropertyValue
  property ID: P2293
  value: Senior-Loken syndrome
additional property: PropertyValue
  property ID: P2293
  value: Joubert syndrome with renal defect
additional property: PropertyValue
  property ID: P2548
  value: reverse strand
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/ncbigene/4867
confidence:
  popularity graph score:
    score: 0.002
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 11
      unique citations norm: 0.004
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 11
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
claims:
  P18:
    value: Protein NPHP1 PDB 1s1n.png
    source count: 0
    confidence: 0.0
  P31:
    value: Q7187
    source count: 1
    confidence: 0.2
    value label: gene
  P279:
    value: Q20747295
    source count: 1
    confidence: 0.2
    value label: protein-coding gene
  P351:
    value: 4867
    source count: 1
    confidence: 0.2
  P353:
    value: NPHP1
    source count: 1
    confidence: 0.2
  P354:
    value: 7905
    source count: 1
    confidence: 0.2
  P492:
    value: 607100
    source count: 1
    confidence: 0.2
  P593:
    value: 229
    source count: 1
    confidence: 0.2
  P594:
    value: ENSG00000144061
    source count: 1
    confidence: 0.2
  P639:
    value: XM_011511244
    source count: 1
    confidence: 0.2
  P639:
    value: NM_000272
    source count: 1
    confidence: 0.2
  P639:
    value: NM_001128178
    source count: 1
    confidence: 0.2
  P639:
    value: NM_001128179
    source count: 1
    confidence: 0.2
  P639:
    value: NM_207181
    source count: 1
    confidence: 0.2
  P644:
    value: 110122311
    source count: 1
    confidence: 0.2
  P644:
    value: 110879888
    source count: 1
    confidence: 0.2
  P645:
    value: 110205066
    source count: 1
    confidence: 0.2
  P645:
    value: 110962643
    source count: 1
    confidence: 0.2
  P684:
    value: Q18257998
    source count: 2
    confidence: 0.4
    value label: Nphp1
  P684:
    value: Q24392860
    source count: 1
    confidence: 0.2
    value label: Nphp1
  P684:
    value: Q29737840
    source count: 2
    confidence: 0.4
    value label: nphp1
  P684:
    value: Q29685394
    source count: 1
    confidence: 0.2
    value label: nphp-1

value: Q21113785
source count: 1
confidence: 0.2
value label: Nephrocystin 1

value: PBB GE NPHP1 206285 at fs.png
source count: 0
confidence: 0.0

value: Q15978631
source count: 1
confidence: 0.2
value label: Homo sapiens

value: ENST00000496524
source count: 1
confidence: 0.2

value: ENST00000316534
source count: 1
confidence: 0.2

value: ENST00000355301
source count: 1
confidence: 0.2

value: ENST00000393272
source count: 1
confidence: 0.2

value: ENST00000417665
source count: 1
confidence: 0.2

value: Q638893
source count: 1
confidence: 0.2
value label: human chromosome 2

value: Q4354267
source count: 1
confidence: 0.2
value label: Senior-Loken syndrome

value: Q32145858
source count: 2
confidence: 0.4
value label: Joubert syndrome with renal defect

value: Q22809711
source count: 1
confidence: 0.2
value label: reverse strand

value: http://identifiers.org/ncbigene/4867
source count: 1
confidence: 0.2

value: C1417782
source count: 1
confidence: 0.2

value: 2q13
source count: 1
confidence: 0.2

value: Q66509808
source count: 1
confidence: 0.2
value label: right uterine tube

value: Q30029740
source count: 1
confidence: 0.2
value label: bronchial epithelial cell

value: Q66574757
source count: 1
confidence: 0.2
value label: olfactory zone of nasal mucosa

value: Q66514508
source count: 1
confidence: 0.2
value label: muscle of thigh

value: Q66502830
source count: 1
confidence: 0.2
value label: left testis

source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: Bgee
stated in qid: Q54985720
retrieved: 2024-06-07

source: Orthologous MAtrix
stated in qid: Q7104801

source: Identifiers.org
stated in qid: Q16335166

source: Q20641742
stated in qid: Q20641742
retrieved: 2022-05-15

source: Online Mendelian Inheritance in Man
stated in qid: Q241953
retrieved: 2019-08-19

source: UniProt
stated in qid: Q905695
retrieved: 2017-07-06

source: UMLS 2023
stated in qid: Q118645236
retrieved: 2023-06-15

source: ensembl Release 106
stated in qid: Q111699881

source: Ensembl Release 87
stated in qid: Q27975061

source: HomoloGene build68
stated in qid: Q20976936

wikidata id: Q18030192
domain: gene
level: standard
html url: https://4ort.xyz/entity/nphp1-q18030192
markdown url: https://4ort.xyz/entity/nphp1-q18030192.md
facts url summary: https://4ort.xyz/entity/nphp1-q18030192/facts.json
facts url standard: https://4ort.xyz/entity/nphp1-q18030192/facts.json
facts url full: https://4ort.xyz/entity/nphp1-q18030192/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-23T01:51:53.769990Z
entity updated at: 2026-05-03T18:28:36.114423+00:00Z
entity created at: 2026-05-03T14:39:58.913405+00:00Z