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SMDT1 (single-pass membrane protein with aspartate rich tail 1)

Identity

Alias (NCBI)C22orf32
DDDD
EMRE
HGNC (Hugo) SMDT1
HGNC Alias symbdJ186O1.1
DDDD
EMRE
HGNC Alias nameessential MCU regulator
HGNC Previous nameC22orf32
HGNC Previous namechromosome 22 open reading frame 32
LocusID (NCBI) 91689
Atlas_Id 73547
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 42079691 and ends at 42084284 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMDT1   25055
Cards
Entrez_Gene (NCBI)SMDT1  91689  single-pass membrane protein with aspartate rich tail 1
AliasesC22orf32; DDDD; EMRE
GeneCards (Weizmann)SMDT1
Ensembl hg19 (Hinxton)ENSG00000183172 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183172 [Gene_View]  ENSG00000183172 [Sequence]  chr22:42079691-42084284 [Contig_View]  SMDT1 [Vega]
ICGC DataPortalENSG00000183172
TCGA cBioPortalSMDT1
AceView (NCBI)SMDT1
Genatlas (Paris)SMDT1
WikiGenes91689
SOURCE (Princeton)SMDT1
Genetics Home Reference (NIH)SMDT1
Genomic and cartography
GoldenPath hg38 (UCSC)SMDT1  -     chr22:42079691-42084284 +  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMDT1  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathSMDT1 - 22q13.2 [CytoView hg19]  SMDT1 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000183172
genome Data Viewer NCBISMDT1 [Mapview hg19]  
OMIM615588   
Gene and transcription
Genbank (Entrez)AK095636 AK312142 AL449243 BC024237 BI754670
RefSeq transcript (Entrez)NM_033318
RefSeq genomic (Entrez)NC_000022 NT_187682 NW_003315971 NW_004504305
Consensus coding sequences : CCDS (NCBI)SMDT1
Alternative Splicing GalleryENSG00000183172
Gene ExpressionSMDT1 [ NCBI-GEO ]   SMDT1 [ EBI - ARRAY_EXPRESS ]   SMDT1 [ SEEK ]   SMDT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMDT1 [ Firebrowse - Broad ]
GenevisibleExpression of SMDT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91689
GTEX Portal (Tissue expression)SMDT1
Human Protein AtlasENSG00000183172-SMDT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4I9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4I9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4I9
Splice isoforms : SwissVarQ9H4I9
PhosPhoSitePlusQ9H4I9
Domains : Interpro (EBI)MCU_reg   
Domain families : Pfam (Sanger)DDDD (PF10161)   
Domain families : Pfam (NCBI)pfam10161   
Conserved Domain (NCBI)SMDT1
DMDM Disease mutations91689
Blocks (Seattle)SMDT1
PDB (RSDB)6O58    6O5B   
PDB Europe6O58    6O5B   
PDB (PDBSum)6O58    6O5B   
PDB (IMB)6O58    6O5B   
Structural Biology KnowledgeBase6O58    6O5B   
SCOP (Structural Classification of Proteins)6O58    6O5B   
CATH (Classification of proteins structures)6O58    6O5B   
SuperfamilyQ9H4I9
Human Protein Atlas [tissue]ENSG00000183172-SMDT1 [tissue]
Peptide AtlasQ9H4I9
HPRD12385
IPIIPI00154512   IPI00893704   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4I9
IntAct (EBI)Q9H4I9
FunCoupENSG00000183172
BioGRIDSMDT1
STRING (EMBL)SMDT1
ZODIACSMDT1
Ontologies - Pathways
QuickGOQ9H4I9
Ontology : AmiGOprotein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  calcium import into the mitochondrion  calcium import into the mitochondrion  mitochondrial calcium ion homeostasis  mitochondrial calcium ion homeostasis  uniplex complex  uniplex complex  
Ontology : EGO-EBIprotein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  mitochondrial calcium ion transmembrane transport  integral component of mitochondrial inner membrane  integral component of mitochondrial inner membrane  calcium import into the mitochondrion  calcium import into the mitochondrion  mitochondrial calcium ion homeostasis  mitochondrial calcium ion homeostasis  uniplex complex  uniplex complex  
NDEx NetworkSMDT1
Atlas of Cancer Signalling NetworkSMDT1
Wikipedia pathwaysSMDT1
Orthology - Evolution
OrthoDB91689
GeneTree (enSembl)ENSG00000183172
Phylogenetic Trees/Animal Genes : TreeFamSMDT1
HOGENOMQ9H4I9
Homologs : HomoloGeneSMDT1
Homology/Alignments : Family Browser (UCSC)SMDT1
Gene fusions - Rearrangements
Fusion : QuiverSMDT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMDT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMDT1
dbVarSMDT1
ClinVarSMDT1
1000_GenomesSMDT1 
Exome Variant ServerSMDT1
GNOMAD BrowserENSG00000183172
Varsome BrowserSMDT1
Genetic variants : HAPMAP91689
Genomic Variants (DGV)SMDT1 [DGVbeta]
DECIPHERSMDT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMDT1 
Mutations
ICGC Data PortalSMDT1 
TCGA Data PortalSMDT1 
Broad Tumor PortalSMDT1
OASIS PortalSMDT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMDT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMDT1
Mutations and Diseases : HGMDSMDT1
BioMutasearch SMDT1
DgiDB (Drug Gene Interaction Database)SMDT1
DoCM (Curated mutations)SMDT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMDT1 (select a term)
intoGenSMDT1
Cancer3DSMDT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615588   
Orphanet
DisGeNETSMDT1
MedgenSMDT1
Genetic Testing Registry SMDT1
NextProtQ9H4I9 [Medical]
TSGene91689
GENETestsSMDT1
Target ValidationSMDT1
Huge Navigator SMDT1 [HugePedia]
snp3D : Map Gene to Disease91689
BioCentury BCIQSMDT1
ClinGenSMDT1
Clinical trials, drugs, therapy
Protein Interactions : CTD91689
Pharm GKB GenePA145149451
Clinical trialSMDT1
Miscellaneous
canSAR (ICR)SMDT1 (select the gene name)
HarmonizomeSMDT1
DataMed IndexSMDT1
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMDT1
EVEXSMDT1
GoPubMedSMDT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:28:34 CEST 2020

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