SMDT1 single-pass membrane protein with aspartate rich tail 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMDT1provided by HGNC
Official Full Name: single-pass membrane protein with aspartate rich tail 1provided by HGNC
Primary source: HGNC:HGNC:25055
See related: Ensembl:ENSG00000183172 MIM:615588; AllianceGenome:HGNC:25055
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DDDD; EMRE; C22orf32
Summary: This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
Expression: Ubiquitous expression in ovary (RPKM 28.8), prostate (RPKM 18.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (42079700..42084284)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42559289..42563873)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42475704..42480288)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Title: SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
Title: Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
the human MCU-EMRE complex, which constitutes the minimal channel components among metazoans, provides a framework for future mechanistic studies on MCU.
Title: Structural Mechanism of EMRE-Dependent Gating of the Human Mitochondrial Calcium Uniporter.
SMDT1 overexpression induced mitochondrial mediated apoptosis.
Title: SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC.
Here, the authors determine the transmembrane orientation of EMRE, and show that its known MCU-activating function is mediated by the interaction of transmembrane helices from both proteins.
Title: Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex.
Our experiments provide novel details about how MCU/EMRE is regulated by MICU1 and an original approach to investigate MCU/EMRE activation in intact cells.
Title: Rearrangement of MICU1 multimers for activation of MCU is solely controlled by cytosolic Ca(2.).
EMRE is essential for in vivo uniporter current and additionally bridges the calcium-sensing role of MICU1 and MICU2 with the calcium-conducting role of MCU.
Title: EMRE is an essential component of the mitochondrial calcium uniporter complex.
EMRE (C22orf32) is an integral mitochondrial inner membrane protein and component of the mitochondrial uniporter complex (uniplex). It is essential for uniporter channel activity. In its absence, the pore does not interact with its regulators MICU1/2.
Title: EMRE is an essential component of the mitochondrial calcium uniporter complex.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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
Biological insights from 108 schizophrenia-associated genetic loci. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

A006U46 (e-PCR)
- UniSTS:35354

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

STS-N22521 (e-PCR)
- UniSTS:50611

SHGC-32218 (e-PCR)
- UniSTS:6898

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium import into the mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium import into the mitochondrion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within calcium import into the mitochondrion	IMP Inferred from Mutant Phenotype more info
involved_in calcium import into the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium import into the mitochondrion	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of uniplex complex	IBA Inferred from Biological aspect of Ancestor more info
part_of uniplex complex	IDA Inferred from Direct Assay more info	PubMed
part_of uniplex complex	IPI Inferred from Physical Interaction more info	PubMed
part_of uniplex complex	ISS Inferred from Sequence or Structural Similarity more info
part_of uniplex complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: essential MCU regulator, mitochondrial

Names: UPF0466 protein C22orf32, mitochondrial; single-pass membrane protein with aspartate-rich tail 1, mitochondrial

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_033318.5 → NP_201575.3 essential MCU regulator, mitochondrial precursor

See identical proteins and their annotated locations for NP_201575.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.

Source sequence(s)

AL021878, BC024237, BI754670, Z82192

Consensus CDS

CCDS14031.1

UniProtKB/Swiss-Prot

B2R5D1, Q8TAB9, Q9H4I9

Related

ENSP00000327467.3, ENST00000331479.4

Conserved Domains (1) summary

pfam10161
Location:36 → 101

DDDD; Putative mitochondrial precursor protein

RNA

NR_146715.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and is represented as non-coding because use of the expected translational start codon would render the transcript a candidate for nonsense-mediated decay (NMD).

Source sequence(s)

AL021878, BC024237, BI754670
NR_146717.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL021878, Z82192