SMDT1 - single-pass membrane protein with aspartate rich tail 1 Gene

Homo sapiens

Also known as DDDD; EMRE; C22orf32

Gene ID: 91689 | Gene type: protein coding

About SMDT1

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:42,079,700-42,084,284 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele and 190 orthologues. Ubiquitous expression in ovary (RPKM 28.8), prostate (RPKM 18.9) and 25 other tissues.

Summary

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

SMDT1 Products(1)

mRNA	Protein	Name
NM_033318.5	NP_201575.3	essential MCU regulator, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables channel activator activity	IDA IDA: Inferred from direct assay	31080062	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27099988	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	32494073	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium import into the mitochondrion	IDA IDA: Inferred from direct assay	31080062	GOA
involved in calcium import into the mitochondrion	IMP IMP: Inferred from mutant phenotype	27099988	GOA
involved in cellular response to calcium ion starvation	IDA IDA: Inferred from direct assay	32494073	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: Inferred from direct assay	32494073	GOA
involved in mitochondrial calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	24231807	GOA
involved in mitochondrial calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24231807	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	31080062	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	24231807	GOA
part of uniplex complex	IDA IDA: Inferred from direct assay	24231807	GOA
part of uniplex complex	IPI IPI: Inferred from physical interaction	32494073	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMDT1 Protein Structure

DDDD

0
100
107 a.a.

Protein Preferred Names

Protein Names

essential MCU regulator, mitochondrial

UPF0466 protein C22orf32, mitochondrial

SMDT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMDT1	Q9H4I9	MYLK2	Homo sapiens	Q9H1R3	Anti Tag CoIP	33961781
Intra	SMDT1	Q9H4I9	MYLK2	Homo sapiens	Q9H1R3	Anti Tag CoIP	28514442
Intra	SMDT1	Q9H4I9	MCU	Homo sapiens	Q8NE86	GMS	32494073
Intra	SMDT1	Q9H4I9	MCU	Homo sapiens	Q8NE86	Anti Tag CoIP	33961781
Intra	SMDT1	Q9H4I9	MCU	Homo sapiens	Q8NE86	3D-EM-Single	32494073

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Eastern Equine Encephalitis

Eee	Neuroinvasive Eastern Equine Encephalitis Virus Infection
Eastern Equine Encephalomyelitis	Encephalomyelitis, Eastern Equine
Triple E	Eastern Equine Encephalitis Virus Infection
Neuroinvasive Eastern Equine Encephalitis Virus Disease	Eee - [Eastern Equine Encephalitis]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13429	SMDT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMDT1	MGD	MGI:1916279
Rattus norvegicus	SMDT1	RGD	RGD:1311310
Macaca mulatta	SMDT1	VGNC	VGNC:77771
Canis familiaris	SMDT1	VGNC	VGNC:46553
Bos taurus	SMDT1	VGNC	VGNC:35009
Felis catus	SMDT1	VGNC	VGNC:65485

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