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Aliases for NFU1 Gene

Aliases for NFU1 Gene

  • NFU1 Iron-Sulfur Cluster Scaffold 2 3 5
  • HIRA-Interacting Protein 5 3 4
  • HIRIP5 3 4
  • NFU1 Iron-Sulfur Cluster Scaffold Homolog (S. Cerevisiae) 2
  • NFU1 Iron-Sulfur Cluster Scaffold Homolog, Mitochondrial 3
  • NifU-Like C-Terminal Domain Containing 3
  • Iron-Sulfur Cluster Scaffold Protein 3
  • HIRA Interacting Protein 5 2
  • CGI-33 3
  • HIRIP 3
  • MMDS1 3
  • NIFUC 3
  • NIFU 3
  • Nfu 3

External Ids for NFU1 Gene

Previous HGNC Symbols for NFU1 Gene

  • HIRIP5

Previous GeneCards Identifiers for NFU1 Gene

  • GC02M069477
  • GC02M069622

Summaries for NFU1 Gene

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) is a Protein Coding gene. Diseases associated with NFU1 include Multiple Mitochondrial Dysfunctions Syndrome 1 and Multiple Mitochondrial Dysfunctions Syndrome. GO annotations related to this gene include iron ion binding and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for NFU1 Gene

  • Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFU1 Gene

Genomics for NFU1 Gene

Regulatory Elements for NFU1 Gene

Enhancers for NFU1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F069448 1.2 Ensembl ENCODE 8.4 -13.0 -12978 4.4 HDGF PKNOX1 ARID4B DMAP1 ZNF766 FOS KLF13 JUNB CREB3 MEF2D GFPT1 NFU1 GC02M069461 PIR52398
GH02F069384 1.1 ENCODE 8.5 +51.0 50958 3.6 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS GFPT1 ANXA4 ANTXR1 NFU1 GC02M069348
GH02F069513 1 ENCODE 6 -77.2 -77155 1.7 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 FOS AAK1 NFU1 GFPT1 RN7SL604P GC02M069470
GH02F069375 0.7 ENCODE 8.3 +61.7 61685 0.2 CTCF ZNF654 HLF GTF2E2 TRIM22 RAD21 MEF2D GATA3 GATA2 THRAP3 PCBP1 GFPT1 NFU1 GC02M069348 ENSG00000252250
GH02F069549 1 Ensembl ENCODE 5.8 -112.5 -112481 1.3 BCOR CBX3 PKNOX1 TAL1 JUN ZMYM3 CHD7 NCOR1 NR2F6 L3MBTL2 GFPT1 ANXA4 NFU1 SNORA36C GC02M069527 GC02P069577
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFU1 on UCSC Golden Path with GeneCards custom track

Promoters for NFU1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122623 528 1801 HDGF CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143

Genomic Location for NFU1 Gene

Chromosome:
2
Start:
69,395,750 bp from pter
End:
69,437,628 bp from pter
Size:
41,879 bases
Orientation:
Minus strand

Genomic View for NFU1 Gene

Genes around NFU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFU1 Gene

Proteins for NFU1 Gene

  • Protein details for NFU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMS0-NFU1_HUMAN
    Recommended name:
    NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
    Protein Accession:
    Q9UMS0
    Secondary Accessions:
    • B4DUL9
    • Q53QE5
    • Q6VNZ8
    • Q7Z5B1
    • Q7Z5B2
    • Q9Y322

    Protein attributes for NFU1 Gene

    Size:
    254 amino acids
    Molecular mass:
    28463 Da
    Quaternary structure:
    • Interacts with HIRA and EPM2A/laforin.
    SequenceCaution:
    • Sequence=AAD27742.1; Type=Frameshift; Positions=5, 16, 115, 117; Evidence={ECO:0000305}; Sequence=AAY14828.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAG36716.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB53015.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFU1 Gene

    Alternative splice isoforms for NFU1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFU1 Gene

Post-translational modifications for NFU1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NFU1 Gene

Domains & Families for NFU1 Gene

Protein Domains for NFU1 Gene

Suggested Antigen Peptide Sequences for NFU1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMS0

UniProtKB/Swiss-Prot:

NFU1_HUMAN :
  • Belongs to the NifU family.
Family:
  • Belongs to the NifU family.
genes like me logo Genes that share domains with NFU1: view

No data available for Gene Families for NFU1 Gene

Function for NFU1 Gene

Molecular function for NFU1 Gene

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

Gene Ontology (GO) - Molecular Function for NFU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IDA 12886008
GO:0005515 protein binding IPI 22190034
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IDA 12886008
genes like me logo Genes that share ontologies with NFU1: view

Phenotypes for NFU1 Gene

genes like me logo Genes that share phenotypes with NFU1: view

Human Phenotype Ontology for NFU1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NFU1 Gene

miRTarBase miRNAs that target NFU1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NFU1 Gene

Localization for NFU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFU1 Gene

Mitochondrion. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFU1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for NFU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12886008
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 12886008
GO:0005829 cytosol IEA,IDA 12886008
genes like me logo Genes that share ontologies with NFU1: view

Pathways & Interactions for NFU1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NFU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly IDA 12886008
genes like me logo Genes that share ontologies with NFU1: view

No data available for Pathways by source and SIGNOR curated interactions for NFU1 Gene

Drugs & Compounds for NFU1 Gene

(3) Drugs for NFU1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NFU1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with NFU1: view

Transcripts for NFU1 Gene

Unigene Clusters for NFU1 Gene

NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFU1 Gene

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

Relevant External Links for NFU1 Gene

GeneLoc Exon Structure for
NFU1
ECgene alternative splicing isoforms for
NFU1

Expression for NFU1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFU1 Gene

This gene is overexpressed in Skin (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NFU1 Gene



Protein tissue co-expression partners for NFU1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFU1 Gene:

NFU1

SOURCE GeneReport for Unigene cluster for NFU1 Gene:

Hs.430439

mRNA Expression by UniProt/SwissProt for NFU1 Gene:

Q9UMS0-NFU1_HUMAN
Tissue specificity: Ubiquitous. Expression in adult lung is weak compared to fetal lung.
genes like me logo Genes that share expression patterns with NFU1: view

Primer Products

No data available for mRNA differential expression in normal tissues for NFU1 Gene

Orthologs for NFU1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NFU1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFU1 34 35
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia NFU1 34 35
  • 94.08 (n)
cow
(Bos Taurus)
Mammalia NFU1 34 35
  • 92.75 (n)
rat
(Rattus norvegicus)
Mammalia Nfu1 34
  • 87.36 (n)
mouse
(Mus musculus)
Mammalia Nfu1 34 16 35
  • 86.58 (n)
oppossum
(Monodelphis domestica)
Mammalia NFU1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFU1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFU1 34 35
  • 76.72 (n)
lizard
(Anolis carolinensis)
Reptilia NFU1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfu1 34
  • 77.2 (n)
Str.662 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1467 34
zebrafish
(Danio rerio)
Actinopterygii nfu1 34 35
  • 71.05 (n)
Dr.1042 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2650 34
fruit fly
(Drosophila melanogaster)
Insecta CG33502 34 35
  • 59.89 (n)
CG32500 35
  • 47 (a)
OneToMany
CG32857 35
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000598 34
  • 58.53 (n)
worm
(Caenorhabditis elegans)
Secernentea lpd-8 34 35
  • 58.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NFU1 34 35 37
  • 50.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25476g 34
  • 49.19 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR045W 34
  • 46.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NFU4 34
  • 60.38 (n)
rice
(Oryza sativa)
Liliopsida Os05g0155300 34
  • 60.21 (n)
Os.7818 34
wheat
(Triticum aestivum)
Liliopsida Ta.1584 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1709.19c 34
  • 57.07 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01779 34
  • 54.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10114 34
Species where no ortholog for NFU1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NFU1 Gene

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

Paralogs for NFU1 Gene

Pseudogenes.org Pseudogenes for NFU1 Gene

genes like me logo Genes that share paralogs with NFU1: view

No data available for Paralogs for NFU1 Gene

Variants for NFU1 Gene

Sequence variations from dbSNP and Humsavar for NFU1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs374514431 Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711], Pathogenic 69,400,462(+) AGAAC(A/C)CTGGA intron-variant, nc-transcript-variant, reference, missense
rs371546359 Pathogenic 69,419,606(+) CTGCC(A/T)GCAAA splice-acceptor-variant
rs114846829 Benign 69,437,352(+) GGCTC(A/G)TCACC intron-variant, utr-variant-5-prime
rs116604978 Benign 69,437,428(+) CTTAG(A/C/T)CCGGA intron-variant, nc-transcript-variant, utr-variant-5-prime
rs12474866 Benign 69,415,258(+) GCATA(A/G)ATATC nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for NFU1 Gene

Variant ID Type Subtype PubMed ID
nsv834252 CNV loss 17160897
nsv1138781 CNV deletion 24896259
nsv1127732 CNV deletion 24896259
esv3558244 CNV deletion 23714750
esv3558233 CNV deletion 23714750
esv33940 CNV loss 17666407

Variation tolerance for NFU1 Gene

Residual Variation Intolerance Score: 53.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFU1 Gene

Human Gene Mutation Database (HGMD)
NFU1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFU1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFU1 Gene

Disorders for NFU1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NFU1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 1
  • mmds1
multiple mitochondrial dysfunctions syndrome
  • multiple mitochondrial dysfunctions syndrome 1
epilepsy, progressive myoclonic 2b
  • epilepsy, progressive myoclonic 2a
- elite association - COSMIC cancer census association via MalaCards
Search NFU1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFU1_HUMAN
  • 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. {ECO:0000269 PubMed:21944046, ECO:0000269 PubMed:22077971}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NFU1

Genetic Association Database (GAD)
NFU1
Human Genome Epidemiology (HuGE) Navigator
NFU1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFU1
genes like me logo Genes that share disorders with NFU1: view

No data available for Genatlas for NFU1 Gene

Publications for NFU1 Gene

  1. Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster. (PMID: 12886008) Tong W.-H. … Rouault T.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 22 64
  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. (PMID: 11342215) Lorain S. … Lipinski M. (Biochim. Biophys. Acta 2001) 2 3 4 22 64
  3. The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (PMID: 12915448) Ganesh S. … Yamakawa K. (Hum. Mol. Genet. 2003) 3 4 22 64
  4. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. (PMID: 21944046) Cameron J.M. … Robinson B.H. (Am. J. Hum. Genet. 2011) 3 4 64
  5. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. (PMID: 22077971) Navarro-Sastre A. … Lill R. (Am. J. Hum. Genet. 2011) 3 4 64

Products for NFU1 Gene

Sources for NFU1 Gene

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