Details for: NFU1

Gene ID: 27247

Symbol: NFU1

Ensembl ID: ENSG00000169599

Description: NFU1 iron-sulfur cluster scaffold

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 217.8788
    Cell Significance Index: -33.8900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 115.2800
    Cell Significance Index: -29.2400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 90.4969
    Cell Significance Index: -37.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 80.8476
    Cell Significance Index: -38.1700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 70.4336
    Cell Significance Index: -36.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 29.6929
    Cell Significance Index: -36.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.5292
    Cell Significance Index: -30.8900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.4601
    Cell Significance Index: -37.3300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.7781
    Cell Significance Index: -23.8900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.6292
    Cell Significance Index: -12.3200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.5727
    Cell Significance Index: 21.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1932
    Cell Significance Index: 194.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8114
    Cell Significance Index: 162.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8041
    Cell Significance Index: 21.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.7784
    Cell Significance Index: 49.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5762
    Cell Significance Index: 103.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5647
    Cell Significance Index: 69.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5371
    Cell Significance Index: 73.7500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5178
    Cell Significance Index: 26.9000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5149
    Cell Significance Index: 102.1800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5023
    Cell Significance Index: 274.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4631
    Cell Significance Index: 35.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4588
    Cell Significance Index: 21.3900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4207
    Cell Significance Index: 5.7400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4148
    Cell Significance Index: 28.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4062
    Cell Significance Index: 145.6800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4057
    Cell Significance Index: 52.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3967
    Cell Significance Index: 25.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3333
    Cell Significance Index: 17.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3267
    Cell Significance Index: 225.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3002
    Cell Significance Index: 22.3700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2744
    Cell Significance Index: 52.2200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2729
    Cell Significance Index: 32.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2635
    Cell Significance Index: 116.5200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2454
    Cell Significance Index: 2.9300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2364
    Cell Significance Index: 40.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1978
    Cell Significance Index: 19.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1915
    Cell Significance Index: 8.6800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1892
    Cell Significance Index: 5.1500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1735
    Cell Significance Index: 6.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1676
    Cell Significance Index: 3.6300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1396
    Cell Significance Index: 18.0400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1014
    Cell Significance Index: 7.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0623
    Cell Significance Index: 2.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0610
    Cell Significance Index: 114.8300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0211
    Cell Significance Index: 13.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0127
    Cell Significance Index: 9.6400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0102
    Cell Significance Index: 7.5000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0101
    Cell Significance Index: 0.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0014
    Cell Significance Index: 0.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0002
    Cell Significance Index: 0.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0028
    Cell Significance Index: -2.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0075
    Cell Significance Index: -0.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0083
    Cell Significance Index: -12.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0084
    Cell Significance Index: -15.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0155
    Cell Significance Index: -21.0400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0182
    Cell Significance Index: -8.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0199
    Cell Significance Index: -12.4100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0360
    Cell Significance Index: -3.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0459
    Cell Significance Index: -25.8800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0584
    Cell Significance Index: -1.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0646
    Cell Significance Index: -1.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0775
    Cell Significance Index: -16.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0905
    Cell Significance Index: -2.4300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1030
    Cell Significance Index: -0.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1049
    Cell Significance Index: -12.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1097
    Cell Significance Index: -31.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1271
    Cell Significance Index: -7.8100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1308
    Cell Significance Index: -19.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1386
    Cell Significance Index: -7.7800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1596
    Cell Significance Index: -4.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1650
    Cell Significance Index: -18.9100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2210
    Cell Significance Index: -4.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2346
    Cell Significance Index: -4.0200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2781
    Cell Significance Index: -31.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2857
    Cell Significance Index: -22.6300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3157
    Cell Significance Index: -8.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3221
    Cell Significance Index: -33.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3227
    Cell Significance Index: -21.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3529
    Cell Significance Index: -5.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3825
    Cell Significance Index: -16.9200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4318
    Cell Significance Index: -11.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4546
    Cell Significance Index: -14.5600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4769
    Cell Significance Index: -18.0600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4907
    Cell Significance Index: -10.4500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.5387
    Cell Significance Index: -15.8200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.5480
    Cell Significance Index: -4.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.5590
    Cell Significance Index: -8.4900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.5713
    Cell Significance Index: -8.5600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6115
    Cell Significance Index: -37.4900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6256
    Cell Significance Index: -12.2100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7097
    Cell Significance Index: -20.9000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7418
    Cell Significance Index: -27.2300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.7423
    Cell Significance Index: -8.0700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7566
    Cell Significance Index: -13.3700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7612
    Cell Significance Index: -16.2700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7694
    Cell Significance Index: -16.3300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7944
    Cell Significance Index: -25.3000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8164
    Cell Significance Index: -28.6000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** NFU1 is a mitochondrial gene, which suggests its involvement in the assembly of iron-sulfur clusters within the mitochondria. The protein encoded by NFU1 is a scaffold that facilitates the assembly of these clusters, which are essential for various cellular functions. NFU1 is characterized by its ability to bind iron and sulfur ions, which are necessary for the formation of iron-sulfur clusters. The gene's expression is widespread, with significant levels found in cells involved in development, immune function, and energy metabolism. **Pathways and Functions:** NFU1 is involved in several key pathways, including: 1. **Iron-sulfur cluster assembly**: NFU1 plays a crucial role in the assembly of iron-sulfur clusters, which are essential for the proper functioning of numerous proteins. These clusters are involved in various cellular processes, including energy metabolism, immune function, and cell signaling. 2. **Iron ion binding**: NFU1's ability to bind iron ions makes it an essential component of iron-sulfur clusters. This binding is necessary for the formation and function of these clusters. 3. **Protein maturation by iron-sulfur cluster transfer**: NFU1 is involved in the maturation of proteins by facilitating the transfer of iron-sulfur clusters. This process is essential for the proper functioning of various proteins, including those involved in energy metabolism and immune function. **Clinical Significance:** Dysregulation of NFU1 has been implicated in various diseases, including: 1. **Mitochondrial disorders**: Mutations in NFU1 have been associated with mitochondrial disorders, which are characterized by impaired energy metabolism and cellular dysfunction. 2. **Immune disorders**: NFU1's involvement in iron-sulfur cluster assembly and immune function makes it a potential target for the development of therapies for immune disorders, such as autoimmune diseases. 3. **Cancer**: NFU1's role in energy metabolism and cellular homeostasis makes it a potential target for the development of cancer therapies. In conclusion, NFU1 is a critical component of iron-sulfur clusters, essential for various cellular functions. Its widespread expression and involvement in key pathways make it a significant player in maintaining overall health. Further research is necessary to fully understand the clinical significance of NFU1 and its potential role in various diseases.

Genular Protein ID: 4255022530

Symbol: NFU1_HUMAN

Name: NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

UniProtKB Accession Codes:

Q9UMS0 B4DUL9 Q53QE5 Q6VNZ8 Q7Z5B1 Q7Z5B2 Q9Y322

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChEBI 2 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SASBDB 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11342215

Title: Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins.

PubMed ID: 11342215

DOI: 10.1016/s0167-4781(00)00300-6

PubMed ID: 12915448

Title: The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.

PubMed ID: 12915448

DOI: 10.1093/hmg/ddg253

PubMed ID: 12886008

Title: Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster.

PubMed ID: 12886008

DOI: 10.1073/pnas.1732541100

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21944046

Title: Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

PubMed ID: 21944046

DOI: 10.1016/j.ajhg.2011.08.011

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27532772

Title: Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.

PubMed ID: 27532772

DOI: 10.7554/elife.16673

PubMed ID: 26702583

Title: Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly.

PubMed ID: 26702583

DOI: 10.1016/j.mito.2015.12.005

PubMed ID: 27818104

Title: Structural/functional properties of human NFU1, an intermediate [4Fe-4S] carrier in human mitochondrial iron-sulfur cluster biogenesis.

PubMed ID: 27818104

DOI: 10.1016/j.str.2016.08.020

PubMed ID: 22077971

Title: A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

PubMed ID: 22077971

DOI: 10.1016/j.ajhg.2011.10.005

PubMed ID: 25918518

Title: Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

PubMed ID: 25918518

DOI: 10.3389/fgene.2015.00123

PubMed ID: 28906594

Title: Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.

PubMed ID: 28906594

DOI: 10.1111/febs.14271

PubMed ID: 28161430

Title: Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.

PubMed ID: 28161430

DOI: 10.1016/j.jmb.2017.01.021

Sequence Information:

  • Length: 254
  • Mass: 28463
  • Checksum: E84B7F47A4A282CF
  • Sequence:
    • MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA AFYHPVRYMF 
IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA RQLFRIEGVK SVFFGPDFIT 
VTKENEELDW NLLKPDIYAT IMDFFASGLP LVTEETPSGE AGSEEDDEVV AMIKELLDTR 
IRPTVQEDGG DVIYKGFEDG IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ 
VMDDESDEKE ANSP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.