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Q9NZ45

- CISD1_HUMAN

UniProt

Q9NZ45 - CISD1_HUMAN

Protein

CDGSH iron-sulfur domain-containing protein 1

Gene

CISD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation By similarity. May be involved in Fe-S cluster shuttling and/or in redox reactions.By similarity2 Publications

    Cofactori

    Binds 1 2Fe-2S cluster per subunit. The 2Fe-2S cluster is redox-active and pH labile and is significantly less stable at pH 4.5 as compared with pH 7.0.5 Publications

    Redox potential

    E is 0 +/- 10 mV for 2Fe-2S at pH 7.5.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi72 – 721Iron-sulfur (2Fe-2S)
    Metal bindingi74 – 741Iron-sulfur (2Fe-2S)
    Metal bindingi83 – 831Iron-sulfur (2Fe-2S)
    Metal bindingi87 – 871Iron-sulfur (2Fe-2S); via pros nitrogen

    GO - Molecular functioni

    1. 2 iron, 2 sulfur cluster binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. regulation of cellular respiration Source: Ensembl

    Keywords - Ligandi

    2Fe-2S, Iron, Iron-sulfur, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CDGSH iron-sulfur domain-containing protein 1
    Alternative name(s):
    MitoNEET
    Gene namesi
    Name:CISD1
    Synonyms:C10orf70, ZCD1
    ORF Names:MDS029
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:30880. CISD1.

    Subcellular locationi

    Mitochondrion outer membrane 4 Publications; Single-pass type III membrane protein 4 Publications

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. mitochondrial outer membrane Source: UniProtKB-SubCell
    4. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi72 – 721C → S: Abolishes absorption in the 300-500 nm range. 1 Publication
    Mutagenesisi74 – 741C → S: Abolishes absorption in the 300-500 nm range. 1 Publication
    Mutagenesisi83 – 831C → S: Abolishes absorption in the 300-500 nm range. 1 Publication
    Mutagenesisi84 – 841D → N: Does not affect absorption in the 300-500 nm range. 1 Publication
    Mutagenesisi87 – 871H → C: Affects absorption in the 300-500 nm range but it is not reduced. Increased stability of the 2Fe-2S cluster at low pH. 1 Publication
    Mutagenesisi87 – 871H → Q: Abolishes absorption in the 300-500 nm range. 1 Publication

    Organism-specific databases

    PharmGKBiPA162382289.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 108107CDGSH iron-sulfur domain-containing protein 1PRO_0000089803Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication
    Modified residuei55 – 551N6-acetyllysineBy similarity
    Modified residuei68 – 681N6-acetyllysineBy similarity
    Modified residuei104 – 1041N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9NZ45.
    PaxDbiQ9NZ45.
    PeptideAtlasiQ9NZ45.
    PRIDEiQ9NZ45.

    PTM databases

    PhosphoSiteiQ9NZ45.

    Expressioni

    Tissue specificityi

    Expression is reduced in cells derived from cystic fibrosis patients.1 Publication

    Inductioni

    Expression is down-regulated by glibenclamide and 5-[(4-carboxyphenyl)methylene]-2-thioxo-3-(3-trifluoromethyl)phenyl-4-thiazolidinone (CFTR(inh)172), and up-regulated by cAMP/isoproterenol/IBMX, components that inhibit and stimulate chloride transport activity respectively.1 Publication

    Gene expression databases

    BgeeiQ9NZ45.
    CleanExiHS_CISD1.
    GenevestigatoriQ9NZ45.

    Organism-specific databases

    HPAiCAB045965.

    Interactioni

    Subunit structurei

    Homodimer.3 Publications

    Protein-protein interaction databases

    BioGridi120949. 8 interactions.
    DIPiDIP-46446N.
    IntActiQ9NZ45. 2 interactions.
    STRINGi9606.ENSP00000363041.

    Structurei

    Secondary structure

    1
    108
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi47 – 493
    Beta strandi53 – 6614
    Beta strandi68 – 714
    Beta strandi73 – 753
    Turni78 – 814
    Helixi86 – 949
    Beta strandi98 – 1047

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2QD0X-ray1.81A/B32-108[»]
    2QH7X-ray1.50A/B33-108[»]
    2R13X-ray1.80A33-108[»]
    3EW0X-ray1.40A/B33-108[»]
    3LPQX-ray1.70A/B33-107[»]
    3REEX-ray1.76A32-108[»]
    4EZFX-ray1.19A/B33-108[»]
    4F1EX-ray2.40A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R33-108[»]
    4F28X-ray1.55A/B33-108[»]
    4F2CX-ray1.35A/B33-108[»]
    ProteinModelPortaliQ9NZ45.
    SMRiQ9NZ45. Positions 33-107.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NZ45.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini32 – 10877CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei14 – 3118Helical; Signal-anchor for type III membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CISD protein family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG236423.
    HOGENOMiHOG000242301.
    HOVERGENiHBG052444.
    InParanoidiQ9NZ45.
    OMAiKDHRNKS.
    OrthoDBiEOG7GQXZ6.
    PhylomeDBiQ9NZ45.
    TreeFamiTF324661.

    Family and domain databases

    InterProiIPR018967. FeS-contain_CDGSH-typ.
    IPR006622. FeS-contain_CDGSH-typ_subfam.
    IPR019610. FeS-contain_mitoNEET_N.
    [Graphical view]
    PfamiPF10660. MitoNEET_N. 1 hit.
    PF09360. zf-CDGSH. 1 hit.
    [Graphical view]
    SMARTiSM00704. ZnF_CDGSH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9NZ45-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSLTSSSSVR VEWIAAVTIA AGTAAIGYLA YKRFYVKDHR NKAMINLHIQ    50
    KDNPKIVHAF DMEDLGDKAV YCRCWRSKKF PFCDGAHTKH NEETGDNVGP 100
    LIIKKKET 108
    Length:108
    Mass (Da):12,199
    Last modified:October 1, 2000 - v1
    Checksum:i2E47000F0635CBB7
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY960578 mRNA. Translation: AAY32336.1.
    AF220049 mRNA. Translation: AAF67642.1.
    AK312017 mRNA. Translation: BAG34955.1.
    CH471083 Genomic DNA. Translation: EAW54163.1.
    BC005962 mRNA. Translation: AAH05962.1.
    BC007043 mRNA. Translation: AAH07043.1.
    BC008474 mRNA. Translation: AAH08474.1.
    BC059168 mRNA. Translation: AAH59168.1.
    CCDSiCCDS7251.1.
    RefSeqiNP_060934.1. NM_018464.4.
    UniGeneiHs.370102.

    Genome annotation databases

    EnsembliENST00000333926; ENSP00000363041; ENSG00000122873.
    GeneIDi55847.
    KEGGihsa:55847.
    UCSCiuc001jkc.5. human.

    Polymorphism databases

    DMDMi25453105.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY960578 mRNA. Translation: AAY32336.1 .
    AF220049 mRNA. Translation: AAF67642.1 .
    AK312017 mRNA. Translation: BAG34955.1 .
    CH471083 Genomic DNA. Translation: EAW54163.1 .
    BC005962 mRNA. Translation: AAH05962.1 .
    BC007043 mRNA. Translation: AAH07043.1 .
    BC008474 mRNA. Translation: AAH08474.1 .
    BC059168 mRNA. Translation: AAH59168.1 .
    CCDSi CCDS7251.1.
    RefSeqi NP_060934.1. NM_018464.4.
    UniGenei Hs.370102.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2QD0 X-ray 1.81 A/B 32-108 [» ]
    2QH7 X-ray 1.50 A/B 33-108 [» ]
    2R13 X-ray 1.80 A 33-108 [» ]
    3EW0 X-ray 1.40 A/B 33-108 [» ]
    3LPQ X-ray 1.70 A/B 33-107 [» ]
    3REE X-ray 1.76 A 32-108 [» ]
    4EZF X-ray 1.19 A/B 33-108 [» ]
    4F1E X-ray 2.40 A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R 33-108 [» ]
    4F28 X-ray 1.55 A/B 33-108 [» ]
    4F2C X-ray 1.35 A/B 33-108 [» ]
    ProteinModelPortali Q9NZ45.
    SMRi Q9NZ45. Positions 33-107.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120949. 8 interactions.
    DIPi DIP-46446N.
    IntActi Q9NZ45. 2 interactions.
    STRINGi 9606.ENSP00000363041.

    Chemistry

    BindingDBi Q9NZ45.
    ChEMBLi CHEMBL1795168.

    PTM databases

    PhosphoSitei Q9NZ45.

    Polymorphism databases

    DMDMi 25453105.

    Proteomic databases

    MaxQBi Q9NZ45.
    PaxDbi Q9NZ45.
    PeptideAtlasi Q9NZ45.
    PRIDEi Q9NZ45.

    Protocols and materials databases

    DNASUi 55847.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000333926 ; ENSP00000363041 ; ENSG00000122873 .
    GeneIDi 55847.
    KEGGi hsa:55847.
    UCSCi uc001jkc.5. human.

    Organism-specific databases

    CTDi 55847.
    GeneCardsi GC10P060028.
    H-InvDB HIX0201471.
    HGNCi HGNC:30880. CISD1.
    HPAi CAB045965.
    MIMi 611932. gene.
    neXtProti NX_Q9NZ45.
    PharmGKBi PA162382289.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236423.
    HOGENOMi HOG000242301.
    HOVERGENi HBG052444.
    InParanoidi Q9NZ45.
    OMAi KDHRNKS.
    OrthoDBi EOG7GQXZ6.
    PhylomeDBi Q9NZ45.
    TreeFami TF324661.

    Miscellaneous databases

    ChiTaRSi CISD1. human.
    EvolutionaryTracei Q9NZ45.
    GenomeRNAii 55847.
    NextBioi 61099.
    PROi Q9NZ45.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NZ45.
    CleanExi HS_CISD1.
    Genevestigatori Q9NZ45.

    Family and domain databases

    InterProi IPR018967. FeS-contain_CDGSH-typ.
    IPR006622. FeS-contain_CDGSH-typ_subfam.
    IPR019610. FeS-contain_mitoNEET_N.
    [Graphical view ]
    Pfami PF10660. MitoNEET_N. 1 hit.
    PF09360. zf-CDGSH. 1 hit.
    [Graphical view ]
    SMARTi SM00704. ZnF_CDGSH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
    2. "Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients."
      Zhao M., Gu J., Li N., Peng Y., Han Z., Chen Z.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Hematopoietic stem cell.
    3. "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].
      Tissue: Spleen.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Bone marrow, Brain and Lung.
    6. "The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster."
      Wiley S.E., Paddock M.L., Abresch E.C., Gross L., van der Geer P., Nechushtai R., Murphy A.N., Jennings P.A., Dixon J.E.
      J. Biol. Chem. 282:23745-23749(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, COFACTOR, MUTAGENESIS OF CYS-72; CYS-74; CYS-83; ASP-84 AND HIS-87.
    7. "MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity."
      Wiley S.E., Murphy A.N., Ross S.A., van der Geer P., Dixon J.E.
      Proc. Natl. Acad. Sci. U.S.A. 104:5318-5323(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, COFACTOR.
    8. "Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2."
      Conlan A.R., Axelrod H.L., Cohen A.E., Abresch E.C., Zuris J., Yee D., Nechushtai R., Jennings P.A., Paddock M.L.
      J. Mol. Biol. 392:143-153(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: BIOPHYSICOCHEMICAL PROPERTIES.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    11. Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 33-108, COFACTOR, SUBUNIT, SUBCELLULAR LOCATION.
    12. "MitoNEET is a uniquely folded 2Fe 2S outer mitochondrial membrane protein stabilized by pioglitazone."
      Paddock M.L., Wiley S.E., Axelrod H.L., Cohen A.E., Roy M., Abresch E.C., Capraro D., Murphy A.N., Nechushtai R., Dixon J.E., Jennings P.A.
      Proc. Natl. Acad. Sci. U.S.A. 104:14342-14347(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.50 ANGSTROMS) OF 33-108, FUNCTION, COFACTOR, SUBUNIT.
    13. "Crystal structure of human mitoNEET reveals distinct groups of iron sulfur proteins."
      Lin J., Zhou T., Ye K., Wang J.
      Proc. Natl. Acad. Sci. U.S.A. 104:14640-14645(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.81 ANGSTROMS) OF 32-108, COFACTOR, SUBUNIT, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCISD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZ45
    Secondary accession number(s): Q1X902
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 25, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 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

    Miscellaneous

    Binds pioglitazone, an anti-diabetes drug. Binding increases the stability of the 2Fe-2S cluster.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3