SMDT1
Single-pass membrane protein with aspartate-rich tail 1; mitochondrial calcium uptake regulator
Gene Information Card
| Symbol | SMDT1 |
|---|---|
| Full Name | Single-pass membrane protein with aspartate-rich tail 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 91689 ncbi.nlm.nih.gov/gene/91689 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9H4I9 |
| OMIM ID | 615156 |
| HGNC ID | 28234 |
| Aliases | EMRE, C22orf32, HSPC141 |
Description
SMDT1 (single-pass membrane protein with aspartate-rich tail 1), also known as EMRE, is an essential component of the mitochondrial calcium uniporter (MCU) complex. It is a single-pass transmembrane protein located in the inner mitochondrial membrane that directly interacts with MCU to mediate calcium uptake into the mitochondrial matrix. SMDT1 is required for MCU channel activity and regulates mitochondrial calcium homeostasis, which is critical for ATP production, cell signaling, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial calcium uptake disorder (experimental) | Loss of SMDT1 impairs MCU complex assembly and reduces mitochondrial calcium uptake, leading to altered cellular metabolism. | Knockout mouse models show embryonic lethality and metabolic defects (PMID: 23604316) |
| Cancer (potential role) | Altered SMDT1 expression may affect mitochondrial calcium dynamics, influencing apoptosis resistance and tumor progression. | Expression changes observed in various cancers (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Skeletal Muscle | 15.2 | Medium |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.4 | Cervical cancer cell line |
| HEK 293 | 10.2 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
| MCF7 | 9.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.104C>T (p.Thr35Met) | missense | Rare | Unknown effect; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SMDT1 disrupt MCU complex assembly, reducing mitochondrial calcium uptake and impairing cellular energy metabolism.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial calcium ion transmembrane transport | • mitochondrial inner membrane |
| • calcium channel activity | • protein binding |
Pathways
• Mitochondrial calcium uniporter pathway
• Calcium signaling pathway
Protein Summary
SMDT1 (EMRE) is a 107-amino-acid single-pass transmembrane protein localized to the inner mitochondrial membrane. It contains an N-terminal mitochondrial targeting signal, a transmembrane domain, and a C-terminal aspartate-rich tail. SMDT1 directly binds MCU and is essential for MCU channel activity, forming part of the uniporter holocomplex. It regulates mitochondrial calcium uptake, which influences ATP synthesis, cell survival, and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMDT1 Knockout HEK293 Cell Line | EDJ-KQ3668 | Human | 91689 | Details Get a Quote |
| SMDT1 Knockout A-549 Cell Line | EDJ-KQ25652 | Human | 91689 | Details Get a Quote |
| SMDT1 Knockout HCT 116 Cell Line | EDJ-KQ25653 | Human | 91689 | Details Get a Quote |
| SMDT1 Knockout HeLa Cell Line | EDJ-KQ25654 | Human | 91689 | Details Get a Quote |
