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Q9H1K1

- ISCU_HUMAN

UniProt

Q9H1K1 - ISCU_HUMAN

Protein

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial

Gene

ISCU

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron.1 Publication

    GO - Molecular functioni

    1. iron ion binding Source: UniProtKB
    2. iron-sulfur cluster binding Source: InterPro
    3. protein binding Source: UniProtKB
    4. protein complex scaffold Source: HGNC

    GO - Biological processi

    1. iron-sulfur cluster assembly Source: UniProtKB
    2. nitrogen fixation Source: UniProtKB
    3. small molecule metabolic process Source: Reactome

    Keywords - Ligandi

    Iron, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_150353. Mitochondrial iron-sulfur cluster biogenesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
    Alternative name(s):
    NifU-like N-terminal domain-containing protein
    NifU-like protein
    Gene namesi
    Name:ISCU
    Synonyms:NIFUN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:29882. ISCU.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: HGNC
    3. mitochondrial matrix Source: Reactome
    4. mitochondrion Source: UniProtKB
    5. nucleus Source: HGNC

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Myopathy with exercise intolerance Swedish type (MEIS) [MIM:255125]: Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi255125. phenotype.
    Orphaneti43115. Hereditary myopathy with lactic acidosis due to ISCU deficiency.
    PharmGKBiPA162392328.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3434MitochondrionSequence AnalysisAdd
    BLAST
    Chaini35 – 167133Iron-sulfur cluster assembly enzyme ISCU, mitochondrialPRO_0000019692Add
    BLAST

    Proteomic databases

    MaxQBiQ9H1K1.
    PaxDbiQ9H1K1.
    PRIDEiQ9H1K1.

    PTM databases

    PhosphoSiteiQ9H1K1.

    Expressioni

    Tissue specificityi

    Detected in heart, liver, skeletal muscle, brain, pancreas, kidney, lung and placenta.2 Publications

    Gene expression databases

    ArrayExpressiQ9H1K1.
    BgeeiQ9H1K1.
    CleanExiHS_ISCU.
    GenevestigatoriQ9H1K1.

    Organism-specific databases

    HPAiCAB006329.
    HPA038602.

    Interactioni

    Subunit structurei

    Binds NFS1. Interacts with HSCB.2 Publications

    Protein-protein interaction databases

    BioGridi117038. 2 interactions.
    IntActiQ9H1K1. 3 interactions.
    MINTiMINT-3066312.
    STRINGi9606.ENSP00000310623.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H1K1.
    SMRiQ9H1K1. Positions 44-162.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NifU family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0822.
    HOGENOMiHOG000069228.
    HOVERGENiHBG052621.
    InParanoidiQ9H1K1.
    OMAiRAGNDIC.
    OrthoDBiEOG7JMGGC.
    PhylomeDBiQ9H1K1.
    TreeFamiTF105422.

    Family and domain databases

    InterProiIPR011339. ISC_FeS_clus_asmbl_IscU.
    IPR002871. NIF_FeS_clus_asmbl_NifU_N.
    [Graphical view]
    PfamiPF01592. NifU_N. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR01999. iscU. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H1K1-1) [UniParc]FASTAAdd to Basket

    Also known as: ISCU2

    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

    MAAAGAFRLR RAASALLLRS PRLPARELSA PARLYHKKVV DHYENPRNVG    50
    SLDKTSKNVG TGLVGAPACG DVMKLQIQVD EKGKIVDARF KTFGCGSAIA 100
    SSSLATEWVK GKTVEEALTI KNTDIAKELC LPPVKLHCSM LAEDAIKAAL 150
    ADYKLKQEPK KGEAEKK 167
    Length:167
    Mass (Da):17,999
    Last modified:November 30, 2010 - v2
    Checksum:i0166D3EC9F1EEB47
    GO
    Isoform 2 (identifier: Q9H1K1-2) [UniParc]FASTAAdd to Basket

    Also known as: ISCU1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKK → MVLIDMSVDLSTQ

    Show »
    Length:142
    Mass (Da):15,263
    Checksum:iEE72CEDC86CD6FF0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 71F → G in AAG37428. (PubMed:11060020)Curated
    Sequence conflicti7 – 71F → G in AAH11906. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121A → V.5 Publications
    Corresponds to variant rs2287555 [ dbSNP | Ensembl ].
    VAR_060728

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3838MAAAG…LYHKK → MVLIDMSVDLSTQ in isoform 2. 1 PublicationVSP_013492Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009127 mRNA. Translation: AAG37427.1.
    AY009128 mRNA. Translation: AAG37428.1.
    AC008119 Genomic DNA. No translation available.
    BC011906 mRNA. Translation: AAH11906.1.
    BC061903 mRNA. Translation: AAH61903.1.
    U47101 mRNA. Translation: AAC50885.1.
    CCDSiCCDS44966.1. [Q9H1K1-1]
    CCDS9118.1. [Q9H1K1-2]
    RefSeqiNP_055116.1. NM_014301.3. [Q9H1K1-2]
    NP_998760.1. NM_213595.2. [Q9H1K1-1]
    XP_006719378.1. XM_006719315.1. [Q9H1K1-2]
    UniGeneiHs.615131.

    Genome annotation databases

    EnsembliENST00000311893; ENSP00000310623; ENSG00000136003. [Q9H1K1-1]
    ENST00000392807; ENSP00000376554; ENSG00000136003. [Q9H1K1-2]
    GeneIDi23479.
    KEGGihsa:23479.
    UCSCiuc001tnc.4. human. [Q9H1K1-2]
    uc010sxc.2. human. [Q9H1K1-1]

    Polymorphism databases

    DMDMi313104118.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY009127 mRNA. Translation: AAG37427.1 .
    AY009128 mRNA. Translation: AAG37428.1 .
    AC008119 Genomic DNA. No translation available.
    BC011906 mRNA. Translation: AAH11906.1 .
    BC061903 mRNA. Translation: AAH61903.1 .
    U47101 mRNA. Translation: AAC50885.1 .
    CCDSi CCDS44966.1. [Q9H1K1-1 ]
    CCDS9118.1. [Q9H1K1-2 ]
    RefSeqi NP_055116.1. NM_014301.3. [Q9H1K1-2 ]
    NP_998760.1. NM_213595.2. [Q9H1K1-1 ]
    XP_006719378.1. XM_006719315.1. [Q9H1K1-2 ]
    UniGenei Hs.615131.

    3D structure databases

    ProteinModelPortali Q9H1K1.
    SMRi Q9H1K1. Positions 44-162.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117038. 2 interactions.
    IntActi Q9H1K1. 3 interactions.
    MINTi MINT-3066312.
    STRINGi 9606.ENSP00000310623.

    PTM databases

    PhosphoSitei Q9H1K1.

    Polymorphism databases

    DMDMi 313104118.

    Proteomic databases

    MaxQBi Q9H1K1.
    PaxDbi Q9H1K1.
    PRIDEi Q9H1K1.

    Protocols and materials databases

    DNASUi 23479.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311893 ; ENSP00000310623 ; ENSG00000136003 . [Q9H1K1-1 ]
    ENST00000392807 ; ENSP00000376554 ; ENSG00000136003 . [Q9H1K1-2 ]
    GeneIDi 23479.
    KEGGi hsa:23479.
    UCSCi uc001tnc.4. human. [Q9H1K1-2 ]
    uc010sxc.2. human. [Q9H1K1-1 ]

    Organism-specific databases

    CTDi 23479.
    GeneCardsi GC12P108956.
    GeneReviewsi ISCU.
    HGNCi HGNC:29882. ISCU.
    HPAi CAB006329.
    HPA038602.
    MIMi 255125. phenotype.
    611911. gene.
    neXtProti NX_Q9H1K1.
    Orphaneti 43115. Hereditary myopathy with lactic acidosis due to ISCU deficiency.
    PharmGKBi PA162392328.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0822.
    HOGENOMi HOG000069228.
    HOVERGENi HBG052621.
    InParanoidi Q9H1K1.
    OMAi RAGNDIC.
    OrthoDBi EOG7JMGGC.
    PhylomeDBi Q9H1K1.
    TreeFami TF105422.

    Enzyme and pathway databases

    Reactomei REACT_150353. Mitochondrial iron-sulfur cluster biogenesis.

    Miscellaneous databases

    ChiTaRSi ISCU. human.
    GeneWikii ISCU.
    GenomeRNAii 23479.
    NextBioi 45827.
    PROi Q9H1K1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H1K1.
    Bgeei Q9H1K1.
    CleanExi HS_ISCU.
    Genevestigatori Q9H1K1.

    Family and domain databases

    InterProi IPR011339. ISC_FeS_clus_asmbl_IscU.
    IPR002871. NIF_FeS_clus_asmbl_NifU_N.
    [Graphical view ]
    Pfami PF01592. NifU_N. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR01999. iscU. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells."
      Tong W.-H., Rouault T.
      EMBO J. 19:5692-5700(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NFS1, TISSUE SPECIFICITY, VARIANT VAL-12.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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), VARIANT VAL-12.
      Tissue: Brain.
    4. "A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution."
      Hwang D.M., Dempsey A., Tan K.-T., Liew C.-C.
      J. Mol. Evol. 43:536-540(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 47-167, TISSUE SPECIFICITY.
      Tissue: Heart.
    5. "Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance."
      Mochel F., Knight M.A., Tong W.-H., Hernandez D., Ayyad K., Taivassalo T., Andersen P.M., Singleton A., Rouault T.A., Fischbeck K.H., Haller R.G.
      Am. J. Hum. Genet. 82:652-660(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MEIS.
    6. "Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis."
      Uhrigshardt H., Singh A., Kovtunovych G., Ghosh M., Rouault T.A.
      Hum. Mol. Genet. 19:3816-3834(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HSCB.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-12, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-12, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-12, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiISCU_HUMAN
    AccessioniPrimary (citable) accession number: Q9H1K1
    Secondary accession number(s): Q6P713, Q99617, Q9H1K2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2005
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 115 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3