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

Summary

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulations of mitoNEET by the key redox homeostasis molecule glutathione.
Title: Regulations of mitoNEET by the key redox homeostasis molecule glutathione.
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.
CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
Title: CISD1 Is a Breast Cancer Prognostic Biomarker Associated with Diabetes Mellitus.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11408 (e-PCR)
- UniSTS:45874

SHGC-58373 (e-PCR)
- UniSTS:79086

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 more info	PubMed
located_in mitochondrion	HTP more info	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

EC 2.6.1.3

XP_054222268.1

EC 2.6.1.3

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)

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