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Aliases for SMDT1 Gene

Aliases for SMDT1 Gene

  • Single-Pass Membrane Protein With Aspartate Rich Tail 1 2 3 5
  • Single-Pass Membrane Protein With Aspartate-Rich Tail 1, Mitochondrial 3 4
  • C22orf32 3 4
  • EMRE 3 4
  • UPF0466 Protein C22orf32, Mitochondrial 3
  • Essential MCU Regulator, Mitochondrial 3
  • Chromosome 22 Open Reading Frame 32 2
  • Essential MCU Regulator 2
  • DDDD 3

External Ids for SMDT1 Gene

Previous HGNC Symbols for SMDT1 Gene

  • C22orf32

Previous GeneCards Identifiers for SMDT1 Gene

  • GC22P042476

Summaries for SMDT1 Gene

Entrez Gene Summary for SMDT1 Gene

  • This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]

GeneCards Summary for SMDT1 Gene

SMDT1 (Single-Pass Membrane Protein With Aspartate Rich Tail 1) is a Protein Coding gene. Diseases associated with SMDT1 include Andersen Syndrome.

UniProtKB/Swiss-Prot for SMDT1 Gene

  • Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMDT1 Gene

Genomics for SMDT1 Gene

Regulatory Elements for SMDT1 Gene

Enhancers for SMDT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G042077 1.2 ENCODE 85.7 -0.4 -430 3.9 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SMDT1 EP300 CYP2D6 RPL5P34 PHF5A XRCC6 RN7SKP80 LOC100506679 TOB2 RRP7BP
GH22G042088 1.4 FANTOM5 ENCODE 73 +10.6 10590 3.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 SMDT1 CYP2D6 NDUFA6 PHF5A EP300 NAGA ENSG00000232754 NDUFA6-AS1 NFAM1 CENPM
GH22G042120 1.2 Ensembl ENCODE 78.3 +41.3 41278 1.5 PKNOX1 ZFP64 SP5 REST ZNF623 ZNF518A SMARCA4 ETV4 KDM1A HNF4A SMDT1 CYP2D6 RPL5P34 PHF5A LOC100506679 XRCC6 NDUFA6-AS1 SNU13 RN7SKP80 ENSG00000235513
GH22G042069 1.1 ENCODE 85.4 -9.2 -9157 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 ZHX2 SMDT1 CYP2D6 WBP2NL NDUFA6-AS1 NAGA GC22P042034 PIR41640
GH22G042282 1.7 FANTOM5 Ensembl ENCODE dbSUPER 30.3 +203.6 203570 1.9 ELF3 ATF1 MLX AGO1 ARID4B DMAP1 NFXL1 ZNF48 RAD21 YY1 SMDT1 RRP7BP NFAM1 CYP2D7 ENSG00000232710 CYP2D6 TCF20 NDUFA6 NDUFA6-AS1 RN7SKP80
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMDT1 on UCSC Golden Path with GeneCards custom track

Promoters for SMDT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146710 309 1601 HDGF PKNOX1 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for SMDT1 Gene

Chromosome:
22
Start:
42,079,691 bp from pter
End:
42,084,284 bp from pter
Size:
4,594 bases
Orientation:
Plus strand

Genomic View for SMDT1 Gene

Genes around SMDT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMDT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMDT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMDT1 Gene

Proteins for SMDT1 Gene

  • Protein details for SMDT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4I9-EMRE_HUMAN
    Recommended name:
    Essential MCU regulator, mitochondrial
    Protein Accession:
    Q9H4I9
    Secondary Accessions:
    • B2R5D1
    • Q8TAB9

    Protein attributes for SMDT1 Gene

    Size:
    107 amino acids
    Molecular mass:
    11441 Da
    Quaternary structure:
    • Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807). Interacts (via the transmembrane region) with MCU (via the first transmembrane region); the interaction is direct (PubMed:27099988). Interacts (via the poly-Asp region) with MICU1 (via polybasic region); the interaction is direct (PubMed:27099988). Interacts (via its C-terminal poly-Asp tail) with MCUR1; the interaction is direct (PubMed:27184846). Unprocessed form interacts (via transit peptide) with MAIP1 (PubMed:27642048).

neXtProt entry for SMDT1 Gene

Post-translational modifications for SMDT1 Gene

  • Undergoes proteolytic degradation in neurons: degraded by AFG3L2 before SMDT1/EMRE assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048).

Other Protein References for SMDT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMDT1 Gene

Domains & Families for SMDT1 Gene

Protein Domains for SMDT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMDT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4I9

UniProtKB/Swiss-Prot:

EMRE_HUMAN :
  • The GXXXX[G/A/S] motif at the C-terminal part of the transmembrane region mediates interaction with MCU and is required to activate the calcium-conducting pore in the uniporter complex.
  • Belongs to the SMDT1/EMRE family.
Domain:
  • The GXXXX[G/A/S] motif at the C-terminal part of the transmembrane region mediates interaction with MCU and is required to activate the calcium-conducting pore in the uniporter complex.
  • The poly-Asp region at the C-terminus mediates interaction with the polybasic region of MICU1.
Family:
  • Belongs to the SMDT1/EMRE family.
genes like me logo Genes that share domains with SMDT1: view

No data available for Gene Families for SMDT1 Gene

Function for SMDT1 Gene

Molecular function for SMDT1 Gene

UniProtKB/Swiss-Prot Function:
Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:24231807, PubMed:26774479, PubMed:27099988). Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU (PubMed:24231807). Plays a central role in regulating the uniplex complex response to intracellular calcium signaling (PubMed:27099988). Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (PubMed:27099988).

Gene Ontology (GO) - Molecular Function for SMDT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27099988
genes like me logo Genes that share ontologies with SMDT1: view
genes like me logo Genes that share phenotypes with SMDT1: view

Animal Models for SMDT1 Gene

MGI Knock Outs for SMDT1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMDT1 Gene

Localization for SMDT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMDT1 Gene

Mitochondrion inner membrane; Single-pass membrane protein. Note=MAIP1 is required to assist sorting of EMRE/SMDT1 into mitochondrion by protecting EMRE/SMDT1 against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048). {ECO:0000269 PubMed:27642048}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMDT1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SMDT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SMDT1: view

Pathways & Interactions for SMDT1 Gene

SuperPathways for SMDT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMDT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006851 mitochondrial calcium ion transport TAS,IMP --
GO:0036444 mitochondrial calcium uptake IMP 22925203
genes like me logo Genes that share ontologies with SMDT1: view

No data available for Pathways by source and SIGNOR curated interactions for SMDT1 Gene

Drugs & Compounds for SMDT1 Gene

No Compound Related Data Available

Transcripts for SMDT1 Gene

mRNA/cDNA for SMDT1 Gene

Unigene Clusters for SMDT1 Gene

Single-pass membrane protein with aspartate-rich tail 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMDT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b
SP1: - -
SP2: -
SP3:

Relevant External Links for SMDT1 Gene

GeneLoc Exon Structure for
SMDT1
ECgene alternative splicing isoforms for
SMDT1

Expression for SMDT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMDT1 Gene

Protein differential expression in normal tissues from HIPED for SMDT1 Gene

This gene is overexpressed in Nasal epithelium (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SMDT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMDT1 Gene:

SMDT1

SOURCE GeneReport for Unigene cluster for SMDT1 Gene:

Hs.306083

Evidence on tissue expression from TISSUES for SMDT1 Gene

  • Nervous system(4.3)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with SMDT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMDT1 Gene

Orthologs for SMDT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMDT1 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia SMDT1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C22H22orf32 34
  • 98.35 (n)
SMDT1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMDT1 34 35
  • 91.09 (n)
cow
(Bos Taurus)
Mammalia SMDT1 34 35
  • 90.43 (n)
mouse
(Mus musculus)
Mammalia Smdt1 34 16 35
  • 85.15 (n)
rat
(Rattus norvegicus)
Mammalia Smdt1 34
  • 85.15 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMDT1 35
  • 67 (a)
OneToOne
C22ORF32 34
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia SMDT1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smdt1 34
  • 62.72 (n)
Str.8588 34
zebrafish
(Danio rerio)
Actinopterygii smdt1 35
  • 47 (a)
OneToOne
Dr.29472 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13565 34
fruit fly
(Drosophila melanogaster)
Insecta CG17680 35
  • 43 (a)
OneToOne
Species where no ortholog for SMDT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMDT1 Gene

ENSEMBL:
Gene Tree for SMDT1 (if available)
TreeFam:
Gene Tree for SMDT1 (if available)

Paralogs for SMDT1 Gene

No data available for Paralogs for SMDT1 Gene

Variants for SMDT1 Gene

Sequence variations from dbSNP and Humsavar for SMDT1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs17852210 --

Structural Variations from Database of Genomic Variants (DGV) for SMDT1 Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for SMDT1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMDT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMDT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMDT1 Gene

Disorders for SMDT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMDT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
andersen syndrome
  • andersen cardiodysrhythmic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards
Search SMDT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMDT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMDT1
genes like me logo Genes that share disorders with SMDT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMDT1 Gene

Publications for SMDT1 Gene

  1. EMRE is an essential component of the mitochondrial calcium uniporter complex. (PMID: 24231807) Sancak Y. … Mootha V.K. (Science 2013) 2 3 4 64
  2. EMRE is a matrix Ca(2+) sensor that governs gatekeeping of the mitochondrial Ca(2+) uniporter. (PMID: 26774479) Vais H. … Foskett J.K. (Cell Rep. 2016) 3 4 64
  3. Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex. (PMID: 27099988) Tsai M.F. … Miller C. (Elife 2016) 3 4 64
  4. MCUR1 is a scaffold factor for the MCU complex function and promotes mitochondrial bioenergetics. (PMID: 27184846) Tomar D. … Madesh M. (Cell Rep. 2016) 3 4 64
  5. The m-AAA protease associated with neurodegeneration limits MCU activity in mitochondria. (PMID: 27642048) Koenig T. … Langer T. (Mol. Cell 2016) 3 4 64

Products for SMDT1 Gene

Sources for SMDT1 Gene

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