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

Gene ID: 91689, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See SMDT1 in Genome Data Viewer
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_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985551 Neighboring gene alpha-N-acetylgalactosaminidase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42462918-42464117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42469572-42470304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42470305-42471035 Neighboring gene Sharpr-MPRA regulatory region 6008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42473646-42474208 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42475449-42476221 Neighboring gene PH domain containing endocytic trafficking adaptor 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit A6 Neighboring gene NDUFA6 divergent transcript Neighboring gene OLA1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Structural Mechanism of EMRE-Dependent Gating of the Human Mitochondrial Calcium Uniporter. Wang Y, et al. Cell, 2019 May 16. PMID 31080062, Free PMC Article
  2. SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC. Xie KF, et al. Biochem Biophys Res Commun, 2019 Apr 2. PMID 30782485
  3. EMRE Is a Matrix Ca(2+) Sensor that Governs Gatekeeping of the Mitochondrial Ca(2+) Uniporter. Vais H, et al. Cell Rep, 2016 Jan 26. PMID 26774479, Free PMC Article
  4. Rearrangement of MICU1 multimers for activation of MCU is solely controlled by cytosolic Ca(2.). Waldeck-Weiermair M, et al. Sci Rep, 2015 Oct 22. PMID 26489515, Free PMC Article
  5. Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex. Van Keuren AM, et al. Cell Rep, 2020 Dec 8. PMID 33296646, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. SMDT1 overexpression induced mitochondrial mediated apoptosis.
    Title: SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC.
  5. 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.
  6. 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.).
  7. 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.
  8. 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.
  9. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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

  1. 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

  2. NR_146717.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL021878, Z82192

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    42079700..42084284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530509.3 → XP_011528811.1  essential MCU regulator, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011528811.1

    UniProtKB/Swiss-Prot
    B2R5D1, Q8TAB9, Q9H4I9
    Conserved Domains (1) summary
    pfam10161
    Location:36 → 101
    DDDD; Putative mitochondrial precursor protein

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315971.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    2045..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329612.1 → XP_054185587.1  essential MCU regulator, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2R5D1, Q8TAB9, Q9H4I9

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_004504305.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2045..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330208.1 → XP_054186183.1  essential MCU regulator, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2R5D1, Q8TAB9, Q9H4I9

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    2045..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330450.1 → XP_054186425.1  essential MCU regulator, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2R5D1, Q8TAB9, Q9H4I9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    42559289..42563873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326132.1 → XP_054182107.1  essential MCU regulator, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B2R5D1, Q8TAB9, Q9H4I9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H4I9.1 GenPept UniProtKB/Swiss-Prot:Q9H4I9

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