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Aliases for CISD1 Gene

Aliases for CISD1 Gene

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

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 Adipogenesis and Glucose / Energy Metabolism. GO annotations related to this gene include 2 iron, 2 sulfur cluster binding. An important paralog of this gene is CISD2.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CISD1 Gene

Genomics for CISD1 Gene

Regulatory Elements for CISD1 Gene

Enhancers for CISD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G058264 1.8 FANTOM5 ENCODE dbSUPER 34.7 -1.4 -1379 6.7 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 CISD1 UBE2D1 IPMK TPT1P10
GH10G058236 1.1 Ensembl ENCODE 45.7 -29.8 -29835 5.2 ELF3 SOX13 FOXA2 SAP130 JUN RARA TEAD3 FOSL1 POLR2A SCRT2 CISD1 IPMK TPT1P10
GH10G058280 1.4 Ensembl ENCODE dbSUPER 34.8 +12.6 12634 3.1 PKNOX1 FEZF1 ZNF2 GATA2 KLF7 FOS JUNB TSHZ1 REST TBX21 CISD1 TFAM UBE2D1 GC10P058299
GH10G058274 1.1 Ensembl ENCODE dbSUPER 34.4 +6.2 6202 2.1 BCOR TBX21 NR2F2 ZNF121 JUND ZNF316 FOS MAFK EMSY CISD1 TFAM UBE2D1 GC10P058299
GH10G058322 1.5 FANTOM5 Ensembl ENCODE 20.9 +53.8 53803 1.5 ELF3 FOXA2 INSM2 FEZF1 DMAP1 THRB RARA YY1 ZNF766 RELB CISD1 IPMK TFAM UBE2D1 ENSG00000261076 ENSG00000228527
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CISD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CISD1 Gene

Chromosome:
10
Start:
58,269,058 bp from pter
End:
58,289,586 bp from pter
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 PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys42, posLast=7878, posLast=7979, Lys89, Lys105, and posLast=106106
  • 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:

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

Gene Ontology (GO) - Molecular Function for CISD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Phenotypes for CISD1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for CISD1

Inhibitory RNA Products

Clone Products

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
extracellular 5
mitochondrion 5
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1
golgi apparatus 1

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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CISD1: view

Pathways & Interactions for CISD1 Gene

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

Pathways by source for CISD1 Gene

1 Cell Signaling Technology pathway for CISD1 Gene
1 BioSystems 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) Additional Compounds for CISD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with CISD1: view

Transcripts for CISD1 Gene

Unigene Clusters for CISD1 Gene

CDGSH iron sulfur domain 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
CISD1

Expression for CISD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CISD1 Gene



Protein tissue co-expression partners for CISD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CISD1 Gene:

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(4.8)
  • Liver(4.3)
  • Lung(4.2)
  • Spleen(4.2)
  • Bone marrow(4.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CISD1: view

Primer Products

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 34 35 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia LOC102154780 34
  • 93.2 (n)
CISD1 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CISD1 34 35
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Cisd1 34 16 35
  • 80.86 (n)
rat
(Rattus norvegicus)
Mammalia Cisd1 34
  • 80.56 (n)
oppossum
(Monodelphis domestica)
Mammalia CISD1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CISD1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CISD1 34 35
  • 75.62 (n)
lizard
(Anolis carolinensis)
Reptilia CISD1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cisd1 34
  • 72.88 (n)
Str.5969 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8356 34
zebrafish
(Danio rerio)
Actinopterygii cisd1 34 35
  • 66.35 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG1458 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.15 34 35
  • 58.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2896 35
  • 29 (a)
OneToMany
Species where no ortholog for CISD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CISD1 Gene

Paralogs for CISD1 Gene

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

Pseudogenes.org Pseudogenes for CISD1 Gene

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

Variants for CISD1 Gene

Sequence variations from dbSNP and Humsavar for CISD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000128393 -- 58,267,738(+) GCTGG(G/T)GCCCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000188601 -- 58,273,704(+) TTATT(G/T)GAAGT intron-variant
rs1000353602 -- 58,288,773(+) TTTCA(C/T)AGGTT utr-variant-3-prime
rs1000467390 -- 58,280,815(+) TGATC(G/T)GGTAC intron-variant
rs1000507927 -- 58,283,302(+) AAATC(C/T)TAATT intron-variant

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)

Relevant External Links for CISD1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • wolfram syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search CISD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CISD1

Genetic Association Database (GAD)
CISD1
Human Genome Epidemiology (HuGE) Navigator
CISD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CISD1
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. MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity. (PMID: 17376863) Wiley S.E. … Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3 4 64
  2. The outer mitochondrial membrane protein mitoNEET contains a novel redox-active 2Fe-2S cluster. (PMID: 17584744) Wiley S.E. … Dixon J.E. (J. Biol. Chem. 2007) 2 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. CISD1 codifies a mitochondrial protein upregulated by the CFTR channel. (PMID: 18047834) Taminelli G.L. … Santa-Coloma T.A. (Biochem. Biophys. Res. Commun. 2008) 3 4 64
  5. Crystal structure of human mitoNEET reveals distinct groups of iron sulfur proteins. (PMID: 17766439) Lin J. … Wang J. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 64

Products for CISD1 Gene

Sources for CISD1 Gene

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