Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	27247
Gene name	NFU1 iron-sulfur cluster scaffold
Gene symbol	NFU1
Synonyms (NCBI Gene)	CGI-33HIRIPHIRIP5MMDFSMMDS1NIFUCNfuNifUSPG93
Chromosome	2
Chromosome location	2p13.3
Summary	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

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
rs1464338870	C>G,T	Likely-pathogenic	Splice acceptor variant

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
MIRT2282559	hsa-miR-26b	CLIP-seq
MIRT2282560	hsa-miR-4310	CLIP-seq
MIRT2282561	hsa-miR-4326	CLIP-seq
MIRT2282562	hsa-miR-4465	CLIP-seq
MIRT2282563	hsa-miR-4477a	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IDA	12886008
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11342215, 12915448, 22190034, 25416956, 26702583, 27532772, 32296183
GO:0005634	Component	Nucleus	IDA	12886008
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	12886008
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	12886008, 12915448
GO:0005829	Component	Cytosol	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IDA	12886008, 28906594
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	27538573
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	12886008, 28906594
GO:0051604	Process	Protein maturation	IBA
GO:0051604	Process	Protein maturation	IDA	27538573

MIM	HGNC	e!Ensembl
608100	16287	ENSG00000169599

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

MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMF
IQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFIT
VTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTR
IRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
VMDDESDEKEANSP

Sequence length

254

Interactions

View interactions

131

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Pathogenic	rs756085990	RCV005898545
Multiple mitochondrial dysfunctions syndrome 1	Likely pathogenic; Pathogenic	rs1281276965, rs2104735490, rs371546359, rs374514431, rs756085990, rs1354126704, rs1464338870	RCV001333595 RCV001706832 RCV001706833 RCV002517248 RCV000023678 RCV000578252 RCV000578338 RCV000991363
NFU1-related disorder	Likely pathogenic; Pathogenic	rs1281276965, rs374514431	RCV004756211 RCV003415735
Spastic paraplegia 93, autosomal recessive	Likely pathogenic; Pathogenic	rs1281276965, rs2104735490	RCV006252779 RCV004699444
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs1281276965	RCV005911103

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Fatal multiple mitochondrial dysfunctions syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs777119948, rs372898848	RCV000340653 RCV000268225

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Multiple Mitochondrial Dysfunctions Syndrome	Associate	28161430, 28356563, 28906593, 28906594, 32151725, 32776106, 36256512, 36385109, 37823603
Muscle Hypotonia	Associate	36256512
Paraparesis Spastic	Associate	25758857
Paraplegia	Associate	25758857
Peripheral Nervous System Diseases	Associate	25758857
Pheochromocytoma	Associate	33397043
Sjogren's Syndrome	Associate	37984252
Spastic Paraplegia Hereditary	Associate	36256512

NFU1 (NFU1 iron-sulfur cluster scaffold)