Identity
HGNC
LOCATION
14q12
LOCUSID
ALIAS
C14orf127,IND1,MC1DN21,huInd1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80224
MIM: 613621
HGNC: 20278
Ensembl: ENSG00000151413
Variants:
dbSNP: 80224
ClinVar: 80224
TCGA: ENSG00000151413
COSMIC: NUBPL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161199368 | iloperidone | Chemical | ClinicalAnnotation | associated | PD | 18521091 | |
| PA447300 | Acquired Long QT Syndrome (aLQTS) | Disease | ClinicalAnnotation | associated | PD | 18521091 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36868263 | 2023 | Expanding the Spectrum of NUBPL-Related Leukodystrophy. | 0 |
| 36868263 | 2023 | Expanding the Spectrum of NUBPL-Related Leukodystrophy. | 0 |
| 32518176 | 2021 | NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. | 7 |
| 32518176 | 2021 | NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. | 7 |
| 31787496 | 2020 | Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. | 5 |
| 31787496 | 2020 | Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. | 5 |
| 30897263 | 2019 | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. | 4 |
| 30897263 | 2019 | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. | 4 |
| 29982452 | 2018 | Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. | 4 |
| 29982452 | 2018 | Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. | 4 |
| 28346728 | 2017 | NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition. | 9 |
| 28346728 | 2017 | NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition. | 9 |
| 25240856 | 2014 | Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein. | 1 |
| 25240856 | 2014 | Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein. | 1 |
| 23553477 | 2013 | NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. | 31 |
Citation
Dessen P
NUBPL (nucleotide binding protein like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71011/nubpl-(nucleotide-binding-protein-like)
