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Q9UMS0

- NFU1_HUMAN

UniProt

Q9UMS0 - NFU1_HUMAN

Protein

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Gene

NFU1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (02 Sep 2008)
      Previous versions | rss
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    Functioni

    Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins.1 Publication

    GO - Molecular functioni

    1. 4 iron, 4 sulfur cluster binding Source: UniProtKB
    2. iron ion binding Source: UniProtKB
    3. protein binding Source: IntAct

    GO - Biological processi

    1. iron-sulfur cluster assembly Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
    Alternative name(s):
    HIRA-interacting protein 5
    Gene namesi
    Name:NFU1
    Synonyms:HIRIP5
    ORF Names:CGI-33
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:16287. NFU1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. mitochondrion Source: UniProtKB
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti208 – 2081G → C in MMDS1. 1 Publication
    VAR_066639

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi605711. phenotype.
    Orphaneti293838. Fatal infantile encephalopathy-pulmonary hypertension syndrome.
    289573. Fatal multiple mitochondrial dysfunction syndrome.
    PharmGKBiPA162397454.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 99MitochondrionSequence Analysis
    Chaini10 – 254245NFU1 iron-sulfur cluster scaffold homolog, mitochondrialPRO_0000166191Add
    BLAST

    Proteomic databases

    MaxQBiQ9UMS0.
    PaxDbiQ9UMS0.
    PRIDEiQ9UMS0.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expression in adult lung is weak compared to fetal lung.1 Publication

    Developmental stagei

    Expressed in embryo and adult.1 Publication

    Gene expression databases

    ArrayExpressiQ9UMS0.
    BgeeiQ9UMS0.
    CleanExiHS_NFU1.
    GenevestigatoriQ9UMS0.

    Organism-specific databases

    HPAiHPA035825.

    Interactioni

    Subunit structurei

    Interacts with HIRA and EPM2A/laforin.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ORFQ9Q2G43EBI-725252,EBI-6248094From a different organism.

    Protein-protein interaction databases

    BioGridi118095. 5 interactions.
    IntActiQ9UMS0. 4 interactions.
    MINTiMINT-1388264.
    STRINGi9606.ENSP00000387219.

    Structurei

    Secondary structure

    1
    254
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi62 – 643
    Beta strandi71 – 755
    Beta strandi80 – 834
    Beta strandi86 – 883
    Helixi93 – 964
    Helixi98 – 1036
    Beta strandi109 – 1157
    Beta strandi118 – 1258
    Helixi130 – 14718
    Helixi167 – 18822
    Beta strandi192 – 1987
    Beta strandi201 – 2066
    Turni208 – 2125
    Helixi214 – 23118
    Beta strandi237 – 2404

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LTMNMR-A59-155[»]
    2M5ONMR-A162-247[»]
    ProteinModelPortaliQ9UMS0.
    SMRiQ9UMS0. Positions 59-155, 164-247.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni173 – 24169NifUAdd
    BLAST

    Sequence similaritiesi

    Belongs to the NifU family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0694.
    HOVERGENiHBG054438.
    InParanoidiQ9UMS0.
    OMAiIMDHFTS.
    OrthoDBiEOG7SXW47.
    PhylomeDBiQ9UMS0.
    TreeFamiTF315076.

    Family and domain databases

    Gene3Di3.30.1370.70. 1 hit.
    InterProiIPR017065. HIRA-interacting_protein_5.
    IPR014824. Nfu/NifU_N.
    IPR001075. NIF_FeS_clus_asmbl_NifU_C.
    [Graphical view]
    PfamiPF08712. Nfu_N. 1 hit.
    PF01106. NifU. 1 hit.
    [Graphical view]
    PIRSFiPIRSF036773. HIRIP5. 1 hit.
    ProDomiPD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    SMARTiSM00932. Nfu_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF110836. SSF110836. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UMS0-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA    50
    AFYHPVRYMF IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA 100
    RQLFRIEGVK SVFFGPDFIT VTKENEELDW NLLKPDIYAT IMDFFASGLP 150
    LVTEETPSGE AGSEEDDEVV AMIKELLDTR IRPTVQEDGG DVIYKGFEDG 200
    IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ VMDDESDEKE 250
    ANSP 254
    Length:254
    Mass (Da):28,463
    Last modified:September 2, 2008 - v2
    Checksum:iE84B7F47A4A282CF
    GO
    Isoform 2 (identifier: Q9UMS0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-141: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:113
    Mass (Da):12,347
    Checksum:iC46A36AEC7E4C515
    GO
    Isoform 3 (identifier: Q9UMS0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: Missing.

    Show »
    Length:230
    Mass (Da):25,924
    Checksum:i2B953543B3A68DCC
    GO

    Sequence cautioni

    The sequence AAD27742.1 differs from that shown. Reason: Frameshift at positions 5, 16, 115 and 117.
    The sequence BAG36716.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAB53015.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAY14828.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti158 – 1581S → P in AAD27742. (PubMed:10810093)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251M → K.2 Publications
    Corresponds to variant rs4453725 [ dbSNP | Ensembl ].
    VAR_044429
    Natural varianti208 – 2081G → C in MMDS1. 1 Publication
    VAR_066639

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 141141Missing in isoform 2. 1 PublicationVSP_041224Add
    BLAST
    Alternative sequencei1 – 2424Missing in isoform 3. 3 PublicationsVSP_041225Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132584 mRNA. Translation: CAB53015.1. Different initiation.
    AY335194 mRNA. Translation: AAQ73784.1.
    AY286306 mRNA. Translation: AAP92372.1.
    AY286307 mRNA. Translation: AAP92373.1.
    AF132967 mRNA. Translation: AAD27742.1. Frameshift.
    AK314004 mRNA. Translation: BAG36716.1. Different initiation.
    AK300700 mRNA. Translation: BAG62381.1.
    DB304061 mRNA. No translation available.
    AC114772 Genomic DNA. Translation: AAY14828.1. Sequence problems.
    CH471053 Genomic DNA. Translation: EAW99849.1.
    CH471053 Genomic DNA. Translation: EAW99850.1.
    BC113692 mRNA. Translation: AAI13693.1.
    BC113694 mRNA. Translation: AAI13695.1.
    CCDSiCCDS33217.1. [Q9UMS0-1]
    CCDS42694.1. [Q9UMS0-2]
    CCDS46315.1. [Q9UMS0-3]
    RefSeqiNP_001002755.1. NM_001002755.2. [Q9UMS0-1]
    NP_001002756.1. NM_001002756.2. [Q9UMS0-2]
    NP_056515.2. NM_015700.3. [Q9UMS0-3]
    XP_006712051.1. XM_006711988.1. [Q9UMS0-3]
    UniGeneiHs.430439.

    Genome annotation databases

    EnsembliENST00000303698; ENSP00000306965; ENSG00000169599. [Q9UMS0-3]
    ENST00000394305; ENSP00000377842; ENSG00000169599. [Q9UMS0-2]
    ENST00000410022; ENSP00000387219; ENSG00000169599. [Q9UMS0-1]
    ENST00000462320; ENSP00000418598; ENSG00000169599. [Q9UMS0-2]
    GeneIDi27247.
    KEGGihsa:27247.
    UCSCiuc002sfj.3. human. [Q9UMS0-1]
    uc002sfl.3. human. [Q9UMS0-2]

    Polymorphism databases

    DMDMi205371805.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132584 mRNA. Translation: CAB53015.1 . Different initiation.
    AY335194 mRNA. Translation: AAQ73784.1 .
    AY286306 mRNA. Translation: AAP92372.1 .
    AY286307 mRNA. Translation: AAP92373.1 .
    AF132967 mRNA. Translation: AAD27742.1 . Frameshift.
    AK314004 mRNA. Translation: BAG36716.1 . Different initiation.
    AK300700 mRNA. Translation: BAG62381.1 .
    DB304061 mRNA. No translation available.
    AC114772 Genomic DNA. Translation: AAY14828.1 . Sequence problems.
    CH471053 Genomic DNA. Translation: EAW99849.1 .
    CH471053 Genomic DNA. Translation: EAW99850.1 .
    BC113692 mRNA. Translation: AAI13693.1 .
    BC113694 mRNA. Translation: AAI13695.1 .
    CCDSi CCDS33217.1. [Q9UMS0-1 ]
    CCDS42694.1. [Q9UMS0-2 ]
    CCDS46315.1. [Q9UMS0-3 ]
    RefSeqi NP_001002755.1. NM_001002755.2. [Q9UMS0-1 ]
    NP_001002756.1. NM_001002756.2. [Q9UMS0-2 ]
    NP_056515.2. NM_015700.3. [Q9UMS0-3 ]
    XP_006712051.1. XM_006711988.1. [Q9UMS0-3 ]
    UniGenei Hs.430439.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LTM NMR - A 59-155 [» ]
    2M5O NMR - A 162-247 [» ]
    ProteinModelPortali Q9UMS0.
    SMRi Q9UMS0. Positions 59-155, 164-247.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118095. 5 interactions.
    IntActi Q9UMS0. 4 interactions.
    MINTi MINT-1388264.
    STRINGi 9606.ENSP00000387219.

    Polymorphism databases

    DMDMi 205371805.

    Proteomic databases

    MaxQBi Q9UMS0.
    PaxDbi Q9UMS0.
    PRIDEi Q9UMS0.

    Protocols and materials databases

    DNASUi 27247.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303698 ; ENSP00000306965 ; ENSG00000169599 . [Q9UMS0-3 ]
    ENST00000394305 ; ENSP00000377842 ; ENSG00000169599 . [Q9UMS0-2 ]
    ENST00000410022 ; ENSP00000387219 ; ENSG00000169599 . [Q9UMS0-1 ]
    ENST00000462320 ; ENSP00000418598 ; ENSG00000169599 . [Q9UMS0-2 ]
    GeneIDi 27247.
    KEGGi hsa:27247.
    UCSCi uc002sfj.3. human. [Q9UMS0-1 ]
    uc002sfl.3. human. [Q9UMS0-2 ]

    Organism-specific databases

    CTDi 27247.
    GeneCardsi GC02M069622.
    HGNCi HGNC:16287. NFU1.
    HPAi HPA035825.
    MIMi 605711. phenotype.
    608100. gene.
    neXtProti NX_Q9UMS0.
    Orphaneti 293838. Fatal infantile encephalopathy-pulmonary hypertension syndrome.
    289573. Fatal multiple mitochondrial dysfunction syndrome.
    PharmGKBi PA162397454.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0694.
    HOVERGENi HBG054438.
    InParanoidi Q9UMS0.
    OMAi IMDHFTS.
    OrthoDBi EOG7SXW47.
    PhylomeDBi Q9UMS0.
    TreeFami TF315076.

    Miscellaneous databases

    ChiTaRSi NFU1. human.
    GenomeRNAii 27247.
    NextBioi 50161.
    PROi Q9UMS0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UMS0.
    Bgeei Q9UMS0.
    CleanExi HS_NFU1.
    Genevestigatori Q9UMS0.

    Family and domain databases

    Gene3Di 3.30.1370.70. 1 hit.
    InterProi IPR017065. HIRA-interacting_protein_5.
    IPR014824. Nfu/NifU_N.
    IPR001075. NIF_FeS_clus_asmbl_NifU_C.
    [Graphical view ]
    Pfami PF08712. Nfu_N. 1 hit.
    PF01106. NifU. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF036773. HIRIP5. 1 hit.
    ProDomi PD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    SMARTi SM00932. Nfu_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF110836. SSF110836. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Lorain S., Lecluse Y., Scamps C., Mattei M.-G., Lipinski M.
      Biochim. Biophys. Acta 1517:376-383(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Myeloid leukemia cell.
    2. "The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain."
      Ganesh S., Tsurutani N., Suzuki T., Ueda K., Agarwala K.L., Osada H., Delgado-Escueta A.V., Yamakawa K.
      Hum. Mol. Genet. 12:2359-2368(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH EPM2A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT LYS-25.
      Tissue: Brain.
    3. "Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster."
      Tong W.-H., Jameson G.N.L., Huynh B.H., Rouault T.A.
      Proc. Natl. Acad. Sci. U.S.A. 100:9762-9767(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), FUNCTION, SUBCELLULAR LOCATION.
    4. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-25.
      Tissue: Skeletal muscle.
    6. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cerebellum.
    9. "Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes."
      Cameron J.M., Janer A., Levandovskiy V., Mackay N., Rouault T.A., Tong W.H., Ogilvie I., Shoubridge E.A., Robinson B.H.
      Am. J. Hum. Genet. 89:486-495(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MMDS1.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Solution NMR structure of NFU1 iron-sulfur cluster scaffold homolog from Homo sapiens, Northeast structural genomics consortium (NESG) target HR2876B."
      Northeast structural genomics consortium (NESG)
      Submitted (AUG-2012) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 59-155.
    12. Cited for: VARIANT MMDS1 CYS-208.

    Entry informationi

    Entry nameiNFU1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UMS0
    Secondary accession number(s): B4DUL9
    , Q53QE5, Q6VNZ8, Q7Z5B1, Q7Z5B2, Q9Y322
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: September 2, 2008
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3