NFU1 (NFU1 iron-sulfur cluster scaffold)

Gene

• Entrez ID: 27247
• Gene name: NFU1 iron-sulfur cluster scaffold
• Gene symbol: NFU1
• Synonyms: CGI-33, HIRIP, HIRIP5, MMDFS, MMDS1, NIFUC, Nfu, NifU, SPG93
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	12886008
GO:0005829	Component	Cytosol	IDA	12886008, 12915448
GO:0016226	Process	Iron-sulfur cluster assembly	IBA	21873635
GO:0016226	Process	Iron-sulfur cluster assembly	IDA	12886008, 28906594
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA	21873635
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IDA	12886008, 28906594
GO:0097428	Process	Protein maturation by iron-sulfur cluster transfer	IBA	21873635

Other IDs

• MIM: 608100
• HGNC: 16287
• e!Ensembl: ENSG00000169599

Protein

• 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

• Sequence:

  MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMF
  IQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFIT
  VTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTR
  IRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQ
  VMDDESDEKEANSP

• Sequence length: 254

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026, rs13333226
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, rs73095427, rs1553264669, rs1553264725, rs769063859, rs765926471, rs1053773776, rs1261081427, rs781627051, rs1553264773, rs765132163, rs1587823007, rs1464338870, rs550855238, rs1209052568	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, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease name	Disease term	dbSNP ID	References
Respiratory failure	Respiratory Failure