NFU1 (NFU1 iron-sulfur cluster scaffold)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27247
Gene name Gene Name - the full gene name approved by the HGNC.
NFU1 iron-sulfur cluster scaffold
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFU1
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, NIFUC, Nfu, NifU, SPG93
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MMDS1, SPG93
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs371546359 T>A Pathogenic Splice acceptor variant
rs374514431 C>A Pathogenic Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs377381866 T>C Likely-pathogenic Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs756085990 C>T Pathogenic Intron variant
rs1354126704 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT028517 hsa-miR-30a-5p Proteomics 18668040
MIRT052291 hsa-let-7b-5p CLASH 23622248
MIRT048651 hsa-miR-99a-5p CLASH 23622248
MIRT2282557 hsa-miR-1297 CLIP-seq
MIRT2282558 hsa-miR-26a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IBA 21873635
GO:0005506 Function Iron ion binding IDA 12886008
GO:0005515 Function Protein binding IPI 22190034, 25416956, 26702583, 32296183
GO:0005634 Component Nucleus IDA 12886008
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608100 16287 ENSG00000169599
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UMS0
Protein name NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (HIRA-interacting protein 5)
Protein function Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.
PDB 2LTM , 2M5O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08712 Nfu_N 61 → 148 Scaffold protein Nfu/NifU N terminal Domain
PF01106 NifU 173 → 239 NifU-like domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO:0000269|PubMed:12915448}.
Sequence
Sequence length 254
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypertension Hypertensive disease rs13306026
Multiple mitochondrial dysfunctions syndrome MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, Multiple Mitochondrial Dysfunctions Syndrome, Multiple mitochondrial dysfunctions syndrome type 1 rs374514431, rs869320737, rs587777016, rs730882246, rs876657407, rs371546359, rs143492730, rs769222264, rs886039730, rs756085990, rs1354126704, rs145596167, rs200188353, rs1436866272, rs1461200360
View all (14 more)		 22077971, 24777537, 11156534, 25918518, 28906594, 24334290, 28161430, 21944046, 27604308
Pulmonary arterial hypertension Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424
View all (116 more)
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Coronary artery disease Coronary artery disease GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 25758857
Carcinoma Renal Cell Associate 36385109
Cognition Disorders Associate 25758857
Genetic Diseases Inborn Associate 32151725
Hecht Scott syndrome Associate 40229705
Hypersensitivity Delayed Associate 36256512
Hypertension Pulmonary Associate 22077971
Infantile Epileptic Dyskinetic Encephalopathy Associate 22077971
Leukoencephalopathies Associate 25758857, 36256512
Mitochondrial Diseases Associate 22077971, 37823603