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LETM1 - leucine zipper and EF-hand containing transmembrane protein 1 Gene

Also Known as Mdm38; CONDMIM; SLC55A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3954

About LETM1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,811,479-1,856,156 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 12.1), kidney (RPKM 9.6) and 25 other tissues.

Summary

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

LETM1 Products (1)

mRNA	Protein	Name
NM_012318.3	NP_036450.1	mitochondrial proton/calcium exchanger protein precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium:proton antiporter activity	IDA IDA: Inferred from direct assay	19797662	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18628306	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium export from the mitochondrion	IDA IDA: Inferred from direct assay	19797662	GOA
involved in calcium export from the mitochondrion	IMP IMP: Inferred from mutant phenotype	32139798	GOA
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	36321428	GOA
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	18628306	GOA
involved in inner mitochondrial membrane organization	IMP IMP: Inferred from mutant phenotype	32139798	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: Inferred from direct assay	19797662	GOA
involved in mitochondrial calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	19797662	GOA
involved in mitochondrial calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	32139798	GOA
involved in mitochondrial potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	36055214	GOA
involved in negative regulation of mitochondrial calcium ion concentration	IMP IMP: Inferred from mutant phenotype	26975899	GOA
involved in regulation of cellular hyperosmotic salinity response	IMP IMP: Inferred from mutant phenotype	26975899	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	18628306	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

LETM1 Protein Structure

LETM1

0
200
400
600
739 a.a.

Protein Preferred Names	Protein Names
mitochondrial proton/calcium exchanger protein	LETM1 and EF-hand domain-containing protein 1, mitochondrial

LETM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Validated Y2H	32296183
Intra	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	LETM1	O95202	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
Intra	LETM1	O95202	PSMA3	Homo sapiens	P25788	Y2H Prey Pooling	25416956
Intra	LETM1	O95202	ZNF76	Homo sapiens	P36508	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Chromosome 4p Deletion	4p Partial Monosomy Syndrome Chromosome 4 Short Arm Deletion 4p Deletion 4p Monosomy Deletion 4p Monosomy 4p Partial Monosomy 4p Wolf-Hirschhorn Syndrome Chromosome 4 Short Arm Deletion Syndrome Deletion Of Short Arm Of Chromosome 4
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Bronchus Adenoma	Bronchial Adenoma Adenoma Of The Bronchus
Chromosomal Deletion Syndrome
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07597	LETM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LETM1	VGNC	VGNC:100241
Bos taurus	LETM1	VGNC	VGNC:30846
Felis catus	LETM1	VGNC	VGNC:68036
Mus musculus	LETM1	MGD	MGI:1932557
Rattus norvegicus	LETM1	RGD	RGD:1359678
Canis familiaris	LETM1	VGNC	VGNC:42641
Others	LETM1	NCBI