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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
  • Chromosome 22 Open Reading Frame 32 2
  • Essential MCU Regulator 2
  • DJ186O1.1 3
  • 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

GeneCards Summary for SMDT1 Gene

SMDT1 (Single-Pass Membrane Protein With Aspartate-Rich Tail 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SMDT1 Gene

  • Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria. Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU.

No data available for Entrez Gene 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

Promoters for SMDT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMDT1 on UCSC Golden Path with GeneCards custom track

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.

neXtProt entry for SMDT1 Gene

Proteomics data for SMDT1 Gene at MOPED

Post-translational modifications for SMDT1 Gene

No Post-translational modifications

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 :
  • Belongs to the SMDT1/EMRE family.
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. Required to bridge the calcium-sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU.
genes like me logo Genes that share phenotypes with SMDT1: view

Animal Models for SMDT1 Gene

MGI Knock Outs for SMDT1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Gene Ontology (GO) - Cellular Components for SMDT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031305 integral component of mitochondrial inner membrane IDA 24231807
genes like me logo Genes that share ontologies with SMDT1: view

No data available for Subcellular locations from COMPARTMENTS for SMDT1 Gene

Pathways & Interactions for SMDT1 Gene

SuperPathways for SMDT1 Gene

No Data Available

Interacting Proteins for SMDT1 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000327467%0d%0a9606.ENSP00000378145%0d%0a9606.ENSP00000354415%0d%0a9606.ENSP00000362144%0d%0a9606.ENSP00000371811%0d%0a
Selected Interacting proteins: ENSP00000327467 for SMDT1 Gene via STRING

Gene Ontology (GO) - Biological Process for SMDT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport IMP 24231807
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

Unigene Clusters for SMDT1 Gene

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

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 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



SOURCE GeneReport for Unigene cluster for SMDT1 Gene Hs.306083

genes like me logo Genes that share expression patterns with SMDT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SMDT1 35
  • 90.43 (n)
  • 87.13 (a)
SMDT1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMDT1 35
  • 91.09 (n)
  • 91.09 (a)
SMDT1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smdt1 35
  • 85.15 (n)
  • 80.2 (a)
Smdt1 16
Smdt1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C22H22orf32 35
  • 98.35 (n)
  • 97.03 (a)
SMDT1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smdt1 35
  • 85.15 (n)
  • 79.21 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMDT1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves C22ORF32 35
  • 66.67 (n)
  • 75.58 (a)
SMDT1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMDT1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smdt1 35
  • 62.72 (n)
  • 67.11 (a)
Str.8588 35
zebrafish
(Danio rerio)
Actinopterygii Dr.29472 35
smdt1 36
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13565 35
fruit fly
(Drosophila melanogaster)
Insecta CG17680 36
  • 43 (a)
OneToOne
Species with no ortholog for SMDT1:
  • 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
VAR_034628 -

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

HapMap Linkage Disequilibrium report
SMDT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SMDT1 Gene

Disorders for SMDT1 Gene

Relevant External Links for SMDT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMDT1

No disorders were found for SMDT1 Gene.

No data available for MalaCards , 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  5. Inactivation of Pde8b enhances memory, motor performance, and protects against age-induced motor coordination decay. (PMID: 22925203) Tsai L.C. … Zweifel L.S. (Genes Brain Behav. 2012) 3

Products for SMDT1 Gene

Sources for SMDT1 Gene

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