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

Gene ID: 55847, updated on 5-Mar-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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Location:
10q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58269162..58289586)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59123271..59143693)
105.20220307 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. CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus. Liu F, et al. Biomolecules, 2022 Dec 25. PMID 36671422, Free PMC Article
  2. MitoNEET's Reactivity of Lys55 toward Pyridoxal Phosphate Demonstrates its Activity as a Transaminase Enzyme. Kunk C, et al. ACS Chem Biol, 2022 Oct 21. PMID 36194135
  3. 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
  4. 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
  5. 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

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
    Title: CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. CISD1 inhibits ferroptosis by protecting the cells against mitochondrial lipid peroxidation.
    Title: CISD1 inhibits ferroptosis by protection against mitochondrial lipid peroxidation.
  10. the redox-sensing function of mNT is a key component of the cellular adaptive response to help stress-sensitive Fe-S proteins recover from oxidative injury.
    Title: Redox Control of the Human Iron-Sulfur Repair Protein MitoNEET Activity via Its Iron-Sulfur Cluster.
Submit: New GeneRIF Correction See all GeneRIFs (38)

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)

Genotypes

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 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 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 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_2023_10

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

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