CISD1
CDGSH iron-sulfur domain-containing protein 1
Also known as: C10orf70, CISD1_HUMAN, MDS029, mitoNEET, ZCD1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZ45
- Gene
- CISD1
- Ensembl
- ENSG00000122873
- Chromosome
- 10
- Canonical length
- 108 aa
- Protein class
- Enzymes, Predicted membrane proteins
- Subcellular location
- Mitochondria
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
108 residues, UniProt reviewed canonical sequence.
>Q9NZ45|CISD1
1 MSLTSSSSVR VEWIAAVTIA AGTAAIGYLA YKRFYVKDHR NKAMINLHIQ KDNPKIVHAF
61 DMEDLGDKAV YCRCWRSKKF PFCDGAHTKH NEETGDNVGP LIIKKKETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CISD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 77 nTPM
- tongue: 47 nTPM
- skeletal muscle: 44 nTPM
- heart muscle: 40 nTPM
- kidney: 25 nTPM
- duodenum: 21 nTPM
Single-cell type
- enterocytes: 501 nCPM
- late spermatids: 479 nCPM
- late primary spermatocytes: 400 nCPM
- parietal cells: 389 nCPM
- gastric progenitor cells: 346 nCPM
- hepatocytes: 302 nCPM
Immune cell
- myeloid DC: 7.6 nTPM
- T-reg: 6.9 nTPM
- memory B-cell: 6.4 nTPM
- naive CD4 T-cell: 5.7 nTPM
- naive CD8 T-cell: 5.7 nTPM
- naive B-cell: 5.4 nTPM
Brain region
- hypothalamus: 20 nTPM
- cerebral cortex: 20 nTPM
- choroid plexus: 18 nTPM
- pons: 16 nTPM
- cerebellum: 15 nTPM
- medulla oblongata: 14 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.45
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.35
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- intracellular iron ion homeostasis
- protein maturation
- regulation of autophagy
- regulation of cellular respiration
Molecular functions
- 2 iron, 2 sulfur cluster binding
- identical protein binding
- L-cysteine transaminase activity
- metal ion binding
- protein homodimerization activity
- pyridoxal phosphate binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CISD1 as an antibody target. Whether an autoantibody or antibody against CISD1 could matter depends on whether native CISD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CISD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CISD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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