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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFU1 Gene

protein-coding   GIFtS: 53
GCID: GC02M069622

NFU1 Iron-Sulfur Cluster Scaffold Homolog (S. Cerevisiae)

(Previous name: HIRA interacting protein 5)
(Previous symbol: HIRIP5)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NFU1 Iron-Sulfur Cluster Scaffold Homolog (S. Cerevisiae)1 2     NIFUC2
HIRIP51 2 3 5     Nfu2
HIRA-Interacting Protein 52 3     NifU2
HIRA Interacting Protein 51     Iron-Sulfur Cluster Scaffold Protein2
HIRIP2     NFU1 Iron-Sulfur Cluster Scaffold Homolog, Mitochondrial2
MMDS12     NifU-Like C-Terminal Domain Containing2

External Ids:    HGNC: 162871   Entrez Gene: 272472   Ensembl: ENSG000001695997   OMIM: 6081005   UniProtKB: Q9UMS03   

Export aliases for NFU1 gene to outside databases

Previous GC identifers: GC02M069477 GC02M069359


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NFU1 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 synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions
syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively
spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Dec
2011)

GeneCards Summary for NFU1 Gene: 
NFU1 (NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with NFU1 include multiple mitochondrial dysfunctions syndrome 1, and fatal infantile encephalopathy-pulmonary hypertension syndrome. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and iron ion binding.

UniProtKB/Swiss-Prot: NFU1_HUMAN, Q9UMS0
Function: Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target
proteins




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFU1 gene promoter:
         Max1   USF1   AML1a   Meis-1b   AREB6   USF-1   Meis-1a   Meis-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFU1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFU1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFU1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p15-p13   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p15-p13

NFU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFU1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M069622:  view genomic region     (about GC identifiers)

Start:
69,622,882 bp from pter      End:
69,664,760 bp from pter
Size:
41,879 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NFU1_HUMAN, Q9UMS0 (See protein sequence)
Recommended Name: NFU1 iron-sulfur cluster scaffold homolog, mitochondrial precursor  
Size: 254 amino acids; 28463 Da
Subunit: Interacts with HIRA and EPM2A/laforin
Subcellular location: Mitochondrion. Cytoplasm, cytosol
Developmental stage: Expressed in embryo and adult
Sequence caution: Sequence=AAD27742.1; Type=Frameshift; Positions=5, 16, 115, 117; Sequence=AAY14828.1;
Type=Erroneous gene model prediction; Sequence=BAG36716.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAB53015.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for NFU1:
2LTM (3D)        2M5O (3D)    
Secondary accessions: B4DUL9 Q53QE5 Q6VNZ8 Q7Z5B1 Q7Z5B2 Q9Y322
Alternative splicing: 3 isoforms:  Q9UMS0-1   Q9UMS0-2   Q9UMS0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFU1: NX_Q9UMS0

Explore proteomics data for NFU1 at MOPED 

NFU1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NFU1 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001002755.1  NP_001002756.1  NP_056515.2  

ENSEMBL proteins: 
 ENSP00000387219   ENSP00000418882   ENSP00000306965   ENSP00000418598   ENSP00000415102  
 ENSP00000417693   ENSP00000405495   ENSP00000393338   ENSP00000377842  

Human Recombinant Protein Products for NFU1: 
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Novus Biologicals NFU1 Protein
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Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005737cytoplasm IDA--
GO:0005739mitochondrion IDA12886008
GO:0005813centrosome IDA--
GO:0005829cytosol IDA12886008

NFU1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
3 InterPro protein domains:
 IPR014824 NIF_FeS_clus_asmbl_NifU-like_N
 IPR001075 NIF_FeS_clus_asmbl_NifU_C
 IPR017065 HIRA-interacting_protein_5

Graphical View of Domain Structure for InterPro Entry Q9UMS0

ProtoNet protein and cluster: Q9UMS0

1 Blocks protein domain: IPB001075 Nitrogen-fixing NifU

UniProtKB/Swiss-Prot: NFU1_HUMAN, Q9UMS0
Similarity: Belongs to the NifU family


NFU1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NFU1_HUMAN, Q9UMS0
Function: Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target
proteins

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005506iron ion binding IDA12886008
GO:0005515protein binding IPI11342215
GO:0051536iron-sulfur cluster binding ----
GO:00515394 iron, 4 sulfur cluster binding IDA12886008
     
NFU1 for ontologies           About GeneDecksing


Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for NFU1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFU1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFU1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFU1 

miRNA
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hsa-miR-146a* hsa-miR-656
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Inhib. RNA
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Gene Editing
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GenScript: all cDNA clones in your preferred vector (see all 4): NFU1 (NM_001002755)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFU1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFU1
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFU1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NFU1

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/26 Interacting proteins for NFU1 (Q9UMS01, 2, 3 ENSP000003872194) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
InteractantInteraction Details
GeneCardExternal ID(s)
NOA1Q8NC602, 3MINT-64776 I2D: score=4 
HIRAP541983, ENSP000002632084I2D: score=4 STRING: ENSP00000263208
EPM2AO952783, ENSP000003564894I2D: score=2 STRING: ENSP00000356489
ISCUQ9H1K13, ENSP000003106234I2D: score=1 STRING: ENSP00000310623
SH3BP4Q9P0V33, ENSP000003402374I2D: score=1 STRING: ENSP00000340237
About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016226iron-sulfur cluster assembly IDA12886008

NFU1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NFU1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NFU1

1 HMDB Compound for NFU1    About this table
CompoundSynonyms CAS #PubMed Ids
IronArmco iron (see all 19)7439-89-6--

4 Novoseek inferred chemical compound relationships for NFU1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
iron-sulfur 85.1 14 17143336 (2), 12777495 (1), 16585765 (1), 17279268 (1) (see all 10)
sulfur 65 3 16585765 (1), 17618690 (1)
iron 38.1 3 12915448 (1), 11342215 (1), 17143336 (1)
cysteine 29.8 2 17618690 (1), 17372218 (1)

Search CenterWatch for drugs/clinical trials and news about NFU1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NFU1 gene (4 alternative transcripts): 
NM_001002755.2  NM_001002756.2  NM_015700.3  NM_001002757.1  

Unigene Cluster for NFU1:

NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
Hs.430439  [show with all ESTs]
Unigene Representative Sequence: BX538347
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000410022(uc002sfj.3 uc002sfk.3 uc002sfm.3 uc010fdi.3 uc002sfn.2)
ENST00000471185 ENST00000474230 ENST00000303698 ENST00000462320 ENST00000450796
ENST00000484177 ENST00000419370 ENST00000438184 ENST00000394305(uc002sfl.3)

Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate NFU1:
hsa-miR-146a* hsa-miR-656
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
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                     Customized lentivirus expression plasmids for stable overexpression of NFU1 
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFU1

Additional mRNA sequence: 

AF132967.1 AJ132584.1 AK300700.1 AK308567.1 AK314004.1 AY286306.1 AY286307.1 AY335194.1 
BC113692.1 BC113694.1 BX538347.1 NR_045631.1 NR_045632.1 

12 DOTS entries:

DT.101983365  DT.100785594  DT.99934120  DT.100785592  DT.120944857  DT.100785591  DT.120944891  DT.95102804 
DT.100036120  DT.100785593  DT.92013410  DT.100036119 

24/140 AceView cDNA sequences (see all 140):

BM694187 BM704717 BM726693 W81413 CA420143 BM725817 BE797547 W81412 
BU734920 CD365057 BE501802 BM478979 BM692922 AI382688 AA683575 CA431406 
AJ132584 NM_001002756 AI304712 CF126306 AA252159 AY286306 BF475477 BM675492 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for NFU1    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1:                                -                             -                 -                     
SP2:                                                              -                 -                     
SP3:                                -                             -                                       
SP4:                                -           -                 -                 -                     
SP5:                                -           -                                                         


ECgene alternative splicing isoforms for NFU1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NFU1 expression in normal human tissues (normalized intensities)      NFU1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGCAGTTTT
NFU1 Expression
About this image


NFU1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
         vastus lateralis   
 
 Kidney (Urinary System)
         Presumptive Podocytes Podocyte Layer
 
 Oral Cavity (Gastrointestinal Tract)
         mouth   

See NFU1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NFU1

SOURCE GeneReport for Unigene cluster: Hs.430439

UniProtKB/Swiss-Prot: NFU1_HUMAN, Q9UMS0
Tissue specificity: Ubiquitous. Expression in adult lung is weak compared to fetal lung

    SABiosciences Custom PCR Arrays for NFU1
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFU1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFU1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NFU1 gene from 10/28 species (see all 28)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nfu11 , 5 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)1, 5 85.73(n)1
89.2(a)1
  6 (37.76 cM)5
567481  NM_001170591.11  NP_001164062.11 
 870092365 
chicken
(Gallus gallus)
Aves NFU11 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 76.85(n)
80.75(a)
  419513  NM_001006305.2  NP_001006305.2 
lizard
(Anolis carolinensis)
Reptilia NFU16
NFU1 iron-sulfur cluster scaffold homolog (S. cere...
72(a)
1 ↔ 1
GL344011.1(149-9069)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14672 Xenopus laevis transcribed sequence with moderate similarity more 77.91(n)    CA973778.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.10422 Danio rerio clone RK075A4E01 HIRA interacting protein more 76.45(n)    AY398357.1 
fruit fly
(Drosophila melanogaster)
Insecta CG335021 CG33502 59.89(n)
66.31(a)
  2768875  NM_206806.2  NP_996529.1 
worm
(Caenorhabditis elegans)
Secernentea lpd-81 Protein LPD-8 58.96(n)
57.29(a)
  177928  NM_069516.3  NP_501917.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NFU1(YKL040C)4
NFU11
Protein involved in iron metabolism in mitochondria; more4
Nfu1p1
50.51(n)1
43.43(a)1
  11(361828-361058)4
8538261, 4  NP_012884.31  NP_012884.14 
thale cress
(Arabidopsis thaliana)
eudicotyledons NFU41 NifU-like protein 4 60.21(n)
58.12(a)
  821647  NM_112989.2  NP_566673.1 
rice
(Oryza sativa)
Liliopsida Os.78182 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 69.27(n)    NM_185273.1 


ENSEMBL Gene Tree for NFU1 (if available)
TreeFam Gene Tree for NFU1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NFU1 gene

NFU1 for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for NFU1
PGOHUM00000244809 PGOHUM00000238002


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/969 SNPs in NFU1 are shown (see all 969)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0666394
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)4--see VAR_0666392 G C mis40--------
rs1459037891,2
--69489718(+) GAGACA/GGGGTT 5 -- ds50010--------
rs579489751,2
C,F--69489785(+) GCCTCC/TCAAAG 5 -- ds50011Minor allele frequency- T:0.50WA 2
rs1423255331,2
--69489822(+) ATACCC/TGGACA 5 -- ds50010--------
rs761524751,2
C--69489831(+) CATTTC/TTGATT 5 -- ds50010--------
rs101700361,2
C,F,A,H--69490084(+) AAGAAG/AGAGCC 5 -- ds5001 trp322Minor allele frequency- A:0.35NA NS EA WA CSA 2346
rs1850511731,2
--69490173(+) TAACTC/TATATG 5 -- ds50010--------
rs1902523461,2
--69490538(+) CATAAC/GCCGGT 5 -- int10--------
rs1438913181,2
--69490626(+) TACTCA/GGGAGG 5 -- int10--------
rs1115256991,2
F--69490738(+) AAAAAT/AAAAAT 5 -- int11Minor allele frequency- A:0.00CSA 1

HapMap Linkage Disequilibrium report for NFU1 (69622882 - 69664760 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for NFU1:    About this table     
Variant IDTypeSubtypePubMed ID
esv33940CNV Loss17666407
nsv834252CNV Loss17160897


Human Gene Mutation Database (HGMD): NFU1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing NFU1
DNA2.0 Custom Variant and Variant Library Synthesis for NFU1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 608100    OMIM disorders: --

UniProtKB/Swiss-Prot: NFU1_HUMAN, Q9UMS0
  • Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]: A severe disorder of systemic energy
    metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis,
    hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and
    irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective
    lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for NFU1:    About MalaCards
    multiple mitochondrial dysfunctions syndrome 1    fatal infantile encephalopathy-pulmonary hypertension syndrome    lafora disease    epilepsy with generalized tonic-clonic seizures
    genital herpes    respiratory failure    lactic acidosis    hypotonia
    pancreatic cancer    hypertension    pancreatitis    gastric cancer

    2 diseases from the University of Copenhagen DISEASES database for NFU1:
    Genital herpes     Epilepsy with generalized tonic-clonic seizures

    NFU1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NFU1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lafora disease 79.7 5 12915448 (2), 15651314 (1)

    Genetic Association Database (GAD): NFU1
    Human Genome Epidemiology (HuGE) Navigator: NFU1 (1 document)

    Export disorders for NFU1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFU1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with NFU1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster. (PubMed id 12886008)1, 2, 3, 9 Tong W.H....Rouault T.A. (2003)
    2. 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)1, 2, 3, 9 Lorain S.... Lipinski M. (2001)
    3. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (PubMed id 12915448)1, 2, 9 Ganesh S.... Yamakawa K. (2003)
    4. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. (PubMed id 22077971)1, 2 Navarro-Sastre A.... Lill R. (2011)
    5. 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)1, 2 Cameron J.M.... Robinson B.H. (2011)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Iron-sulfur cluster biosynthesis: characterization of a molten globule domain in human NFU. (PubMed id 19722697)1 Liu Y. and Cowan J.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27247 HGNC: 16287 AceView: HIRIP5 Ensembl:ENSG00000169599 euGenes: HUgn27247
    ECgene: NFU1 H-InvDB: NFU1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFU1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NFU1 gene:
    Search GeneIP for patents involving NFU1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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