This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2... See more...

Aliases for CISD1 Gene

Aliases for CISD1 Gene

  • CDGSH Iron Sulfur Domain 1 2 3 5
  • MitoNEET 2 3 4
  • CDGSH Iron-Sulfur Domain-Containing Protein 1 3 4
  • C10orf70 3 4
  • MDS029 2 3
  • ZCD1 3 4
  • Chromosome 10 Open Reading Frame 70 2
  • Zinc Finger, CDGSH-Type Domain 1 2
  • Zinc Finger CDGSH-Type Domain 1 3
  • CISD1 5

External Ids for CISD1 Gene

Previous HGNC Symbols for CISD1 Gene

  • C10orf70
  • ZCD1

Previous GeneCards Identifiers for CISD1 Gene

  • GC10P059700
  • GC10P060028
  • GC10P054017

Summaries for CISD1 Gene

Entrez Gene Summary for CISD1 Gene

  • This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]

GeneCards Summary for CISD1 Gene

CISD1 (CDGSH Iron Sulfur Domain 1) is a Protein Coding gene. Diseases associated with CISD1 include Wolfram Syndrome 2 and Wolfram Syndrome. Among its related pathways are Glucose / Energy Metabolism and Adipogenesis. Gene Ontology (GO) annotations related to this gene include 2 iron, 2 sulfur cluster binding. An important paralog of this gene is CISD2.

UniProtKB/Swiss-Prot Summary for CISD1 Gene

  • 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.

Additional gene information for CISD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CISD1 Gene

Genomics for CISD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CISD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J058264 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 634.6 -1.5 -1483 6.7 BRCA1 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SOX13 CISD1 IPMK NONHSAG005951.2 UBE2D1 TFAM piR-49423-031 MN309086
GH10J058236 Enhancer 0.9 Ensembl ENCODE 45.7 -29.8 -29841 5.4 GATAD2A SOX13 RXRB CEBPA ETS1 TCF7 SP1 JUND CEBPB FOS MN309086 SNODB318 CISD1 IPMK piR-49423-031
GH10J058280 Enhancer 1.1 Ensembl ENCODE dbSUPER 34.8 +12.7 12739 4.2 JUND PRDM1 IKZF2 EED DPF2 RELB RUNX3 FOS JUN FOSL1 CISD1 TFAM UBE2D1 NONHSAG005951.2 IPMK ENSG00000228527
GH10J058178 Enhancer 0.7 Ensembl 44.4 -89.6 -89561 1.6 ZNF512 JUND DPF2 EP300 FOXK2 U2AF2 FOSL1 NCOR1 FOSL2 MNT CISD1 TFAM IPMK piR-57387-006 RF00017-668
GH10J058274 Enhancer 0.8 Ensembl ENCODE dbSUPER 34.4 +6.3 6339 2.6 ZNF316 MAFK NR2F2 BCOR JUND ZNF121 EMSY CISD1 TFAM UBE2D1 NONHSAG005951.2 IPMK ENSG00000228527
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CISD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CISD1

Top Transcription factor binding sites by QIAGEN in the CISD1 gene promoter:
  • Cdc5
  • CUTL1
  • E47
  • LyF-1
  • p53
  • Pbx1a
  • Tal-1beta
  • ZIC2

Genomic Locations for CISD1 Gene

Genomic Locations for CISD1 Gene
chr10:58,269,162-58,289,586
(GRCh38/hg38)
Size:
20,425 bases
Orientation:
Plus strand
chr10:60,028,818-60,049,346
(GRCh37/hg19)
Size:
20,529 bases
Orientation:
Plus strand

Genomic View for CISD1 Gene

Genes around CISD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CISD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CISD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CISD1 Gene

Proteins for CISD1 Gene

  • Protein details for CISD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ45-CISD1_HUMAN
    Recommended name:
    CDGSH iron-sulfur domain-containing protein 1
    Protein Accession:
    Q9NZ45
    Secondary Accessions:
    • Q1X902

    Protein attributes for CISD1 Gene

    Size:
    108 amino acids
    Molecular mass:
    12199 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Binds pioglitazone, an anti-diabetes drug. Binding increases the stability of the 2Fe-2S cluster.

    Three dimensional structures from OCA and Proteopedia for CISD1 Gene

neXtProt entry for CISD1 Gene

Post-translational modifications for CISD1 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys42, Lys78, Lys79, Lys89, Lys105, and Lys106
  • Modification sites at PhosphoSitePlus

Other Protein References for CISD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CISD1 Gene

Domains & Families for CISD1 Gene

Gene Families for CISD1 Gene

Protein Domains for CISD1 Gene

Suggested Antigen Peptide Sequences for CISD1 Gene

GenScript: Design optimal peptide antigens:
  • MitoNEET (CISD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZ45

UniProtKB/Swiss-Prot:

CISD1_HUMAN :
  • Belongs to the CISD protein family.
Family:
  • Belongs to the CISD protein family.
genes like me logo Genes that share domains with CISD1: view

Function for CISD1 Gene

Molecular function for CISD1 Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Redox potential: E is 0 +/- 10 mV for 2Fe-2S at pH 7.5. {ECO:0000269|PubMed:19580816};

Phenotypes From GWAS Catalog for CISD1 Gene

Gene Ontology (GO) - Molecular Function for CISD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042802 identical protein binding IPI 17766439
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with CISD1: view
genes like me logo Genes that share phenotypes with CISD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CISD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CISD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CISD1 Gene

Localization for CISD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CISD1 Gene

Mitochondrion outer membrane. Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CISD1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CISD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005741 mitochondrial outer membrane IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032473 cytoplasmic side of mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with CISD1: view

Pathways & Interactions for CISD1 Gene

PathCards logo

SuperPathways for CISD1 Gene

genes like me logo Genes that share pathways with CISD1: view

Pathways by source for CISD1 Gene

1 BioSystems pathway for CISD1 Gene
1 Cell Signaling Technology pathway for CISD1 Gene

Gene Ontology (GO) - Biological Process for CISD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043457 regulation of cellular respiration IEA --
genes like me logo Genes that share ontologies with CISD1: view

No data available for SIGNOR curated interactions for CISD1 Gene

Drugs & Compounds for CISD1 Gene

(1) Drugs for CISD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1560
genes like me logo Genes that share compounds with CISD1: view

Transcripts for CISD1 Gene

mRNA/cDNA for CISD1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CISD1

Alternative Splicing Database (ASD) splice patterns (SP) for CISD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7
SP1: - - - - -
SP2: - -
SP3:
SP4: - - -
SP5: - -

Relevant External Links for CISD1 Gene

GeneLoc Exon Structure for
CISD1

Expression for CISD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CISD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CISD1 Gene

This gene is overexpressed in Nasal epithelium (34.4) and Frontal cortex (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CISD1 Gene



Protein tissue co-expression partners for CISD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CISD1

SOURCE GeneReport for Unigene cluster for CISD1 Gene:

Hs.370102

mRNA Expression by UniProt/SwissProt for CISD1 Gene:

Q9NZ45-CISD1_HUMAN
Tissue specificity: Expression is reduced in cells derived from cystic fibrosis patients.

Evidence on tissue expression from TISSUES for CISD1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Lung(4.3)
  • Spleen(4.2)
  • Bone marrow(4.2)
  • Heart(3.1)
  • Muscle(2.8)
  • Kidney(2.4)
  • Skin(2.2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CISD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CISD1 Gene

Orthologs for CISD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CISD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CISD1 30 31 31
  • 100 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia LOC102154780 30
  • 93.2 (n)
CISD1 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CISD1 30 31
  • 92.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cisd1 30 17 31
  • 80.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cisd1 30
  • 80.56 (n)
Oppossum
(Monodelphis domestica)
Mammalia CISD1 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CISD1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CISD1 30 31
  • 75.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CISD1 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cisd1 30
  • 72.88 (n)
Str.5969 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8356 30
Zebrafish
(Danio rerio)
Actinopterygii cisd1 30 31
  • 66.35 (n)
OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG1458 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea W02B12.15 30 31
  • 58.04 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2896 31
  • 29 (a)
OneToMany
Species where no ortholog for CISD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CISD1 Gene

ENSEMBL:
Gene Tree for CISD1 (if available)
TreeFam:
Gene Tree for CISD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CISD1: view image

Paralogs for CISD1 Gene

Paralogs for CISD1 Gene

(1) SIMAP similar genes for CISD1 Gene using alignment to 1 proteins:

  • CISD1_HUMAN

Pseudogenes.org Pseudogenes for CISD1 Gene

genes like me logo Genes that share paralogs with CISD1: view

Variants for CISD1 Gene

Additional dbSNP identifiers (rs#s) for CISD1 Gene

Variation tolerance for CISD1 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CISD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CISD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for CISD1 Gene

Disorders for CISD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CISD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
wolfram syndrome
  • wfs
- elite association - COSMIC cancer census association via MalaCards
Search CISD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CISD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CISD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CISD1 Gene

Publications for CISD1 Gene

  1. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PMID: 17584744) Wiley SE … Dixon JE (The Journal of biological chemistry 2007) 2 3 4
  2. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PMID: 17376863) Wiley SE … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. CISD1 codifies a mitochondrial protein upregulated by the CFTR channel. (PMID: 18047834) Taminelli GL … Santa-Coloma TA (Biochemical and biophysical research communications 2008) 3 4
  5. Crystallographic studies of human MitoNEET. (PMID: 17905743) Hou X … Gong W (The Journal of biological chemistry 2007) 3 4

Products for CISD1 Gene

  • Signalway Proteins for CISD1

Sources for CISD1 Gene