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CISD3 Gene

protein-coding   GIFtS: 32
GCID: GC17P036886

CDGSH Iron Sulfur Domain 3

  Search for CISD3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CDGSH Iron Sulfur Domain 31 2     CDGSH Iron Sulfur Domain-Containing Protein 3, Mitochondrial2
MitoNEET Related 21 2     CDGSH Iron-Sulfur Domain-Containing Protein 3, Mitochondrial2
MitoNEET-Related Protein 22 3     MINER25
Miner22 3     

External Ids:    HGNC: 275781   Entrez Gene: 2841062   Ensembl: ENSG000002300557   OMIM: 6119335   UniProtKB: P0C7P03   

Export aliases for CISD3 gene to outside databases

Previous GC identifers: GC17U900840 GC17P034138 GC17P032655


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CISD3 Gene:
CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport
and oxidative phosphorylation (Wiley et al., 2007 (PubMed 17376863)).(supplied by OMIM, Apr 2008)

GeneCards Summary for CISD3 Gene:
CISD3 (CDGSH iron sulfur domain 3) is a protein-coding gene. GO annotations related to this gene include 2 iron, 2 sulfur cluster binding.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CISD3 gene promoter:
         HOXA9   HOXA9B   NF-1   GATA-3   Pax-5   NRSF form 1   ZIC2/Zic2   NRSF form 2   Meis-1b   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CISD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CISD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

CISD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CISD3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P036886:  view genomic region     (about GC identifiers)

Start:
36,886,488 bp from pter      End:
36,891,858 bp from pter
Size:
5,371 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CISD3_HUMAN, P0C7P0 (See protein sequence)
Recommended Name: CDGSH iron-sulfur domain-containing protein 3, mitochondrial precursor  
Size: 127 amino acids; 14216 Da
Cofactor: Binds 2 2Fe-2S clusters per subunit (Probable)

Explore the universe of human proteins at neXtProt for CISD3: NX_P0C7P0

Explore proteomics data for CISD3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CISD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001129970.1  
    ENSEMBL proteins: 
     ENSP00000391402  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CISD: CDGSH iron sulfur domain containing

    2 InterPro protein domains:
     IPR006622 FeS-contain_CDGSH-typ_subfam
     IPR018967 FeS-contain_CDGSH-typ

    Graphical View of Domain Structure for InterPro Entry P0C7P0

    ProtoNet protein and cluster: P0C7P0

    UniProtKB/Swiss-Prot: CISD3_HUMAN, P0C7P0
    Similarity: Belongs to the CISD protein family


    CISD3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IEA--
         
    CISD3 for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CISD3_HUMAN, P0C7P0: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    CISD3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CISD3
    Interactions:

        Search GeneGlobe Interaction Network for CISD3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CISD3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CISD3 gene: 
    NM_001136498.1  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439660(uc010wds.1) ENST00000578573 ENST00000581668
    miRNA
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    hsa-miR-124* hsa-miR-579 hsa-miR-1224-3p hsa-miR-134 hsa-miR-507 hsa-miR-4267 hsa-miR-105 hsa-miR-877*
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    Selected AceView cDNA sequences (see all 55):

    AI078424 BQ961946 BM927768 BX421225 C04332 CD674522 F31376 BM794297 
    CR621383 AK098433 AK097047 BC062294 BM553995 AI660550 AA677676 BM546511 
    BQ219085 AA384419 BF304272 AJ709107 CB268667 BI827547 F36956 CD368647 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CISD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAAGAAT
    CISD3 Expression
    About this image

    CISD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CISD3 Protein Expression
        Custom PCR Arrays for CISD3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CISD3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CISD3 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cisd31 , 5 CDGSH iron sulfur domain 31, 5 85.98(n)1
    87.85(a)1
      11 (61.06 cM)5
    2171491  NM_001085500.21  NP_001078969.21 
     976858265 
    chicken
    (Gallus gallus)
    Aves CISD36
    CDGSH iron sulfur domain 3
    43(a)
    1 ↔ 1
    27(4006813-4007489)
    lizard
    (Anolis carolinensis)
    Reptilia CISD36
    CDGSH iron sulfur domain 3
    44(a)
    1 ↔ 1
    6(72969606-72979212)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG34206
    --
    30(a)
    1 ↔ 1
    2R(2643801-2644714)
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D2.36
    M88.76
    Protein M88.7 (M88.7) mRNA, complete cds
    27(a)
    24(a)
    many → 1
    many → 1
    III(1540491-1543420) WBGene00022053
    III(4542881-4546025) WBGene00010909


    ENSEMBL Gene Tree for CISD3 (if available)
    TreeFam Gene Tree for CISD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CISD3 (see all 80)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116528101,2
    C,F,A,H--36886720(+) CAGCCC/ACCACT 1 -- int18Minor allele frequency- A:0.17NS EA NA WA 770
    rs80762931,2
    A--36886722(+) gccccC/Gactcc 1 -- int10--------
    rs116585001,2
    C,F,A,H--36886828(+) GCCAGG/AACCTC 1 -- int110Minor allele frequency- A:0.07NS NA 1188
    rs1116763111,2
    C--36887011(+) CTTGCA/GGGACC 1 -- spa10--------
    rs80805471,2
    A--36887051(+) CTGGTA/GAGTCC 1 -- int10--------
    rs1865440101,2
    --36887055(+) TGAGTC/GCCCCC 1 -- int10--------
    rs1494188301,2
    --36887068(+) CCTCCC/TCTCCT 1 -- int10--------
    rs1171311071,2
    C,F--36887090(+) ACCCCC/GAGGCA 1 -- int11Minor allele frequency- G:0.03EA 120
    rs80807101,2
    C,F,A--36887144(+) TACAGG/CCCTAT 1 -- int14Minor allele frequency- C:0.25WA CSA 123
    rs80769551,2
    A--36887146(+) CAGGCC/GTATTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for CISD3 (36886488 - 36891858 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CISD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3160n71CNV Loss21882294
    nsv470585CNV Loss18288195
    nsv908196CNV Loss21882294
    nsv833438CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611933    OMIM disorders: --


    CISD3 for disorders           About GeneDecksing


    Export disorders for CISD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CISD3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CISD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PubMed id 17376863)1, 2, 3 Wiley S.E.... Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    2. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PubMed id 17584744)1, 3 Wiley S.E.... Dixon J.E. (J. Biol. Chem. 2007)
    3. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 284106 HGNC: 27578 AceView: LOC284106 Ensembl:ENSG00000230055 euGenes: HUgn284106
    ECgene: CISD3 H-InvDB: CISD3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CISD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CISD3 gene:
    Search GeneIP for patents involving CISD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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