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

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91689
Gene name Gene Name - the full gene name approved by the HGNC.
Single-pass membrane protein with aspartate rich tail 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMDT1
Synonyms (NCBI Gene) Gene synonyms aliases
C22orf32, DDDD, EMRE
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(39)
miRTarBase ID miRNA Experiments Reference
MIRT040009 hsa-miR-615-3p CLASH 23622248
MIRT563852 hsa-miR-548e-5p PAR-CLIP 20371350
MIRT563851 hsa-miR-3173-3p PAR-CLIP 20371350
MIRT563850 hsa-miR-6891-5p PAR-CLIP 20371350
MIRT563849 hsa-miR-15a-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27099988, 27184846, 27642048, 32494073
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615588 25055 ENSG00000183172
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H4I9
Protein name Essential MCU regulator, mitochondrial (Single-pass membrane protein with aspartate-rich tail 1, mitochondrial)
Protein 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, PubMed:30454562, PubMed:31080062, PubMed:32315830
PDB 6K7X , 6K7Y , 6O58 , 6O5B , 6WDN , 6WDO , 6XJV , 6XJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10161 DDDD 32 → 107 Putative mitochondrial precursor protein Family
Sequence
Sequence length 107
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Mitochondrial calcium ion transport
Processing of SMDT1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863
View all (210 more)
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Dementia Associate 28600779
Intellectual Disability Associate 28600779