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

Homo sapiens

Also known as Mdm38; CONDMIM; SLC55A1

Gene ID: 3954 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.