SMDT1
Essential MCU regulator, mitochondrial
Also known as: C22orf32, DDDD, dJ186O1.1, EMRE, EMRE_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4I9
- Gene
- SMDT1
- Ensembl
- ENSG00000183172
- Chromosome
- 22
- Canonical length
- 107 aa
- Protein class
- Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
Canonical amino-acid sequenceUniProt
107 residues, UniProt reviewed canonical sequence.
>Q9H4I9|SMDT1
1 MASGAARWLV LAPVRSGALR SGPSLRKDGD VSAAWSGSGR SLVPSRSVIV TRSGAILPKP
61 VKMSFGLLRV FSIVIPFLYV GTLISKNFAA LLEEHDIFVP EDDDDDDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMDT1 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)
- 0.65
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 37 nTPM
- tongue: 35 nTPM
- amygdala: 27 nTPM
- cerebral cortex: 25 nTPM
- basal ganglia: 24 nTPM
- cerebellum: 23 nTPM
Single-cell type
- parietal cells: 504 nCPM
- esophageal apical cells: 427 nCPM
- gastric chief cells: 381 nCPM
- late primary spermatocytes: 351 nCPM
- enterocytes: 319 nCPM
- epididymal efferent duct absorptive cells: 317 nCPM
Immune cell
- naive CD4 T-cell: 9.5 nTPM
- memory CD4 T-cell: 8.7 nTPM
- myeloid DC: 8.5 nTPM
- naive B-cell: 7.1 nTPM
- plasmacytoid DC: 6.4 nTPM
- naive CD8 T-cell: 6.1 nTPM
Brain region
- cerebellum: 25 nTPM
- white matter: 18 nTPM
- cerebral cortex: 18 nTPM
- basal ganglia: 18 nTPM
- pons: 18 nTPM
- hypothalamus: 17 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)
- 1.61
- gnomAD pLI
- 0.18
- gnomAD missense Z
- -0.1
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
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
- calcium import into the mitochondrion
- cellular response to calcium ion starvation
- mitochondrial calcium ion homeostasis
- mitochondrial calcium ion transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Essential MCU regulator, mitochondrial
- Putative mitochondrial precursor protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMDT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMDT1 as an antibody target. Whether an autoantibody or antibody against SMDT1 could matter depends on whether native SMDT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMDT1 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 SMDT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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