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    CISD1 CDGSH iron sulfur domain 1 [ Homo sapiens (human) ]

    Gene ID: 55847, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CISD1provided by HGNC
    Official Full Name
    CDGSH iron sulfur domain 1provided by HGNC
    Primary source
    HGNC:HGNC:30880
    See related
    Ensembl:ENSG00000122873 MIM:611932; AllianceGenome:HGNC:30880
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZCD1; MDS029; C10orf70; mitoNEET
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 13.4), small intestine (RPKM 9.9) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See CISD1 in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58269162..58289586)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59123271..59143693)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60028922..60049346)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate multikinase Neighboring gene TPT1 pseudogene 10 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 9892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:60028628-60029184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2377 Neighboring gene uncharacterized LOC112268068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:60094430-60094930 Neighboring gene ubiquitin conjugating enzyme E2 D1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NADPH inhibits [2Fe-2S] cluster protein transfer from diabetes drug target MitoNEET to an apo-acceptor protein. Zuris JA, et al. J Biol Chem, 2012 Apr 6. PMID 22351774, Free PMC Article
    2. Exploring the FMN binding site in the mitochondrial outer membrane protein mitoNEET. Tasnim H, et al. Free Radic Biol Med, 2020 Aug 20. PMID 32445867, Free PMC Article
    3. The mitochondrial outer membrane protein mitoNEET is a redox enzyme catalyzing electron transfer from FMNH(2) to oxygen or ubiquinone. Wang Y, et al. J Biol Chem, 2017 Jun 16. PMID 28461337, Free PMC Article
    4. Flavin nucleotides act as electron shuttles mediating reduction of the [2Fe-2S] clusters in mitochondrial outer membrane protein mitoNEET. Landry AP, et al. Free Radic Biol Med, 2017 Jan. PMID 27923678, Free PMC Article
    5. CISD1 inhibits ferroptosis by protection against mitochondrial lipid peroxidation. Yuan H, et al. Biochem Biophys Res Commun, 2016 Sep 16. PMID 27510639

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Regulations of mitoNEET by the key redox homeostasis molecule glutathione.
      Title: Regulations of mitoNEET by the key redox homeostasis molecule glutathione.
    2. Overexpression of ferroptosis-related genes FSP1 and CISD1 is related to prognosis and tumor immune infiltration in gastric cancer.
      Title: Overexpression of ferroptosis-related genes FSP1 and CISD1 is related to prognosis and tumor immune infiltration in gastric cancer.
    3. CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
      Title: CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
    4. Exploring the FMN binding site in the mitochondrial outer membrane protein mitoNEET.
      Title: Exploring the FMN binding site in the mitochondrial outer membrane protein mitoNEET.
    5. Defects in CISD-1, a mitochondrial iron-sulfur protein, lower glucose level and ATP production in Caenorhabditis elegans.
      Title: Defects in CISD-1, a mitochondrial iron-sulfur protein, lower glucose level and ATP production in Caenorhabditis elegans.
    6. mitoNEET regulates VDAC in a redox-dependent manner in cells, closing the pore and likely disrupting VDAC's flow of metabolites
      Title: Redox-dependent gating of VDAC by mitoNEET.
    7. The [2Fe-2S] clusters of mitoNEET are reduced via the formation of a transient complex that brings the [2Fe-2S] clusters of mitoNEET close to the redox-active [2Fe-2S] cluster of anamorsin.
      Title: Anamorsin/Ndor1 Complex Reduces [2Fe-2S]-MitoNEET via a Transient Protein-Protein Interaction.
    8. The results suggest that flavin nucleotides may act as electron shuttles to reduce the mitoNEET [2Fe-2S] clusters and regulate mitochondrial functions in human cells.
      Title: Flavin nucleotides act as electron shuttles mediating reduction of the [2Fe-2S] clusters in mitochondrial outer membrane protein mitoNEET.
    9. Data suggest that, compared with oxygen, ubiquinone-2 is more efficient in oxidizing mitoNEET [2Fe-2S] clusters, suggesting that ubiquinone could be an intrinsic electron acceptor of reduced mitoNEET [2Fe-2S] clusters in mitochondrial outer membrane.
      Title: The mitochondrial outer membrane protein mitoNEET is a redox enzyme catalyzing electron transfer from FMNH(2) to oxygen or ubiquinone.
    10. CISD1 inhibits ferroptosis by protecting the cells against mitochondrial lipid peroxidation.
      Title: CISD1 inhibits ferroptosis by protection against mitochondrial lipid peroxidation.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Application of HIV-1 Tat transmembrane transport peptide to cells induces PKN1 gene and slightly represses two genes, ZCD1 and BSG PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14684

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 2 iron, 2 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-cysteine transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-cysteine transaminase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pyridoxal phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation by [2Fe-2S] cluster transfer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cellular respiration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    CDGSH iron-sulfur domain-containing protein 1
    Names
    cysteine transaminase CISD1
    zinc finger CDGSH-type domain 1
    NP_060934.1
    XP_054222268.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018464.5 → NP_060934.1  CDGSH iron-sulfur domain-containing protein 1

      See identical proteins and their annotated locations for NP_060934.1

      Status: VALIDATED

      Source sequence(s)
      AC016396, AI025360, AY960578, DA417986
      Consensus CDS
      CCDS7251.1
      UniProtKB/Swiss-Prot
      Q1X902, Q9NZ45
      Related
      ENSP00000363041.4, ENST00000333926.6
      Conserved Domains (2) summary
      smart00704
      Location:55 → 93
      ZnF_CDGSH; CDGSH-type zinc finger. Function unknown
      pfam10660
      Location:12 → 41
      MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      58269162..58289586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      59123271..59143693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366293.1 → XP_054222268.1  CDGSH iron-sulfur domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZ45.1 GenPept UniProtKB/Swiss-Prot:Q9NZ45

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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