Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NFU1 Gene

protein-coding   GIFtS: 55
GCID: GC02M069622

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

(Previous name: HIRA interacting protein 5)
(Previous symbol: HIRIP5)
  See NFU1-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

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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

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

Export aliases for NFU1 gene to outside databases

Previous GC identifers: GC02M069477 GC02M069359


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

TryGeneCards Plus

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 lafora disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for NFU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NFU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    NFU1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NFU1
    GenScript Custom Purified and Recombinant Proteins Services for NFU1
    Novus Biologicals NFU1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NFU1 

    NFU1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NFU1
    Novus Biologicals NFU1 Antibody
    Search for Antibodies for NFU1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NFU1
    Search LSBio for Antibodies for NFU1

    NFU1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NFU1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NFU1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for NFU1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    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


    Find genes that share domains with NFU1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    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
         
    Find genes that share ontologies with NFU1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFU1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target NFU1:
    hsa-mir-30a-5p (MIRT028517), hsa-let-7b-5p (MIRT052291), hsa-mir-99a-5p (MIRT048651)

    Block miRNA regulation of human, mouse, rat NFU1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NFU1:
    hsa-miR-146a* hsa-miR-656
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NFU1
    Predesigned siRNA for gene silencing in human, mouse, rat NFU1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NFU1

    Clone
    Products:
         
    OriGene clones in human, mouse for NFU1 (see all 19)
    OriGene ORF clones in mouse, rat for NFU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NFU1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NFU1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFU1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NFU1_HUMAN, Q9UMS0: Mitochondrion. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    nucleus5
    cytoskeleton4
    chloroplast2
    peroxisome2

    Gene Ontology (GO): 5 cellular component terms:    About this table

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

    Find genes that share ontologies with NFU1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NFU1
    Interactions:

        Search GeneGlobe Interaction Network for NFU1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NFU1 (Q9UMS01, 2, 3 ENSP000003872194) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    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:    About this table

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

    Find genes that share ontologies with NFU1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    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)



    Find genes that share compounds with NFU1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NFU1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NFU1:
    hsa-miR-146a* hsa-miR-656
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NFU1
    Predesigned siRNA for gene silencing in human, mouse, rat NFU1
    Clone
    Products:
         
    OriGene clones in human, mouse for NFU1 (see all 19)
    OriGene ORF clones in mouse, rat for NFU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NFU1 (NM_001002755)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFU1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFU1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NFU1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NFU1
      QuantiTect SYBR Green Assays in human, mouse, rat NFU1
      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 

    Selected AceView cDNA sequences (see all 140):

    AY286307 BM478979 CA431406 NM_015700 AI304712 AW298703 AA937661 AI382688 
    W81412 NM_001002756 BM726693 BM704717 BF475477 BM692922 BX398479 BM763845 
    BE501802 CA867269 W81413 BM978940 BM668239 BE797547 BM725817 CA447183 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NFU1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Adipose (Muscoskeletal System)
     
     Skeletal Muscle (Muscoskeletal System)
    NFU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFU1 Protein Expression

    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

        Custom PCR Arrays for NFU1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NFU1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NFU1
    QuantiTect SYBR Green Assays in human, mouse, rat NFU1
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NFU1 gene from Selected 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 86.58(n)1
    92.21(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) 76.72(n)
    81.03(a)
      419513  NM_001006305.2  NP_001006305.2 
    lizard
    (Anolis carolinensis)
    Reptilia NFU16
    NFU1 iron-sulfur cluster scaffold homolog (S. cere...
    74(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 lpd-8 58.75(n)
    56.93(a)
      177928  NM_069516.4  NP_501917.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NFU1(YKL040C)4
    NFU11
    Protein involved in iron metabolism in mitochondria; more4
    NFU11
    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 NFU4 60.38(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

    TryGeneCards Plus
    Paralogs for NFU1 gene

    Find genes that share paralogs with NFU1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NFU1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 608100   
    OMIM disorders: 605711  
    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

  • 4 diseases for NFU1:    
    About MalaCards
    multiple mitochondrial dysfunctions syndrome 1    lafora disease    epilepsy with generalized tonic-clonic seizures    genital herpes

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

    Find genes that share disorders with NFU1           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for NFU1 gene, integrated from 10 sources (see all 32):
    (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. (Proc. Natl. Acad. Sci. U.S.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. (Biochim. Biophys. Acta 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. (Hum. Mol. Genet. 2003)
    4. 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. (Am. J. Hum. Genet. 2011)
    5. 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. (Am. J. Hum. Genet. 2011)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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.-C. (Genome Res. 2000)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 27247 HGNC: 16287 AceView: HIRIP5 Ensembl:ENSG00000169599 euGenes: HUgn27247
    ECgene: NFU1 H-InvDB: NFU1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NFU1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NFU1  
     OriGene qSTAR qPCR primer pairs in human, mouse for NFU1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NFU1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NFU1   OriGene Custom Protein Services for NFU1  

     
     
     Block miRNA regulation of human, mouse, rat NFU1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NFU1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NFU1 Predesigned siRNA for gene silencing in human, mouse, rat NFU1
     QuantiFast Probe-based Assays in human, mouse, rat NFU1 QuantiTect SYBR Green Assays in human, mouse, rat NFU1
     Custom PCR Arrays for NFU1 Search Chromatin IP Primers for NFU1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NFU1  Search GeneGlobe Interaction Network for NFU1
     Regulatory tfbs in NFU1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NFU1 GenScript cDNA clones with any tag delivered in your preferred vector for NFU1
     GenScript Custom Assay Services for NFU1 GenScript Custom overexpressing Cell Line Services for NFU1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NFU1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NFU1 antibodies
     NFU1 proteins
     Search for Antibodies for NFU1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for NFU1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for NFU1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFU1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NFU1
     SwitchGear Promoter luciferase reporter plasmids for NFU1
     ThermoFisher Antibody for NFU1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFU1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFU1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NFU1
     Search LSBio for Antibodies for NFU1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for NFU1
      Search eBioscience for proteins for NFU1
      Search eBioscience for elisas for NFU1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NFU1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4