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Q9NZ45

- CISD1_HUMAN

UniProt

Q9NZ45 - CISD1_HUMAN

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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

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

[2Fe-2S] cluster5 PublicationsNote: 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei14 – 3118Helical; Signal-anchor for type III membrane proteinSequence AnalysisAdd
BLAST
Topological domaini32 – 10877CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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 – 493Combined sources
Beta strandi53 – 6614Combined sources
Beta strandi68 – 714Combined sources
Beta strandi73 – 753Combined sources
Turni78 – 814Combined sources
Helixi86 – 949Combined sources
Beta strandi98 – 1047Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the CISD protein family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG236423.
GeneTreeiENSGT00390000001233.
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

        10         20         30         40         50
MSLTSSSSVR VEWIAAVTIA AGTAAIGYLA YKRFYVKDHR NKAMINLHIQ
60 70 80 90 100
KDNPKIVHAF DMEDLGDKAV YCRCWRSKKF PFCDGAHTKH NEETGDNVGP

LIIKKKET
Length:108
Mass (Da):12,199
Last modified:October 1, 2000 - v1
Checksum:i2E47000F0635CBB7
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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.
GeneTreei ENSGT00390000001233.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 120 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