Identity
HGNC
LOCATION
2p13.3
LOCUSID
ALIAS
CGI-33,HIRIP,HIRIP5,MMDS1,NIFUC,Nfu,NifU
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: 27247
MIM: 608100
HGNC: 16287
Ensembl: ENSG00000169599
Variants:
dbSNP: 27247
ClinVar: 27247
TCGA: ENSG00000169599
COSMIC: NFU1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36645076 | 2023 | Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1. | 0 |
| 37211204 | 2023 | Structural Plasticity of NFU1 Upon Interaction with Binding Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway. | 0 |
| 37823603 | 2023 | BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. | 2 |
| 36645076 | 2023 | Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1. | 0 |
| 37211204 | 2023 | Structural Plasticity of NFU1 Upon Interaction with Binding Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway. | 0 |
| 37823603 | 2023 | BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. | 2 |
| 36256512 | 2022 | Phenotypic continuum of NFU1-related disorders. | 1 |
| 36256512 | 2022 | Phenotypic continuum of NFU1-related disorders. | 1 |
| 33711344 | 2021 | ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins. | 6 |
| 33711344 | 2021 | ISCA1 Orchestrates ISCA2 and NFU1 in the Maturation of Human Mitochondrial [4Fe-4S] Proteins. | 6 |
| 31724821 | 2020 | A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis. | 25 |
| 31970900 | 2020 | Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. | 7 |
| 32776106 | 2020 | Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1. | 10 |
| 31724821 | 2020 | A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis. | 25 |
| 31970900 | 2020 | Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. | 7 |
Citation
Dessen P
NFU1 (NFU1 iron-sulfur cluster scaffold)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70818/nfu1-(nfu1-iron-sulfur-cluster-scaffold)
