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

中文名称：含亮氨酸拉链和 EF 手的跨膜蛋白 1

种属: Homo sapiens

同用名: Mdm38; CONDMIM; SLC55A1

基因 ID: 3954 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种定位于线粒体内膜的蛋白质。该蛋白质的功能是维持线粒体管状形状，并且是正常线粒体形态和细胞活力所必需的。该基因的突变导致 Wolf-Hirschhorn 综合征，这是一种由 4 号染色体远端短臂部分缺失引起的复杂畸形综合征。相关假基因已在 8 号、15 号和 19 号染色体上鉴定。[RefSeq 提供，2009 年 10 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables calcium:proton antiporter activity	IDA IDA: 通过直接分析推断	19797662	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	18628306	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium export from the mitochondrion	IDA IDA: 通过直接分析推断	19797662	GOA
involved in calcium export from the mitochondrion	IMP IMP: 通过突变表型推断	32139798	GOA
involved in calcium ion transport	IMP IMP: 通过突变表型推断	36321428	GOA
involved in cristae formation	IMP IMP: 通过突变表型推断	18628306	GOA
involved in inner mitochondrial membrane organization	IMP IMP: 通过突变表型推断	32139798	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: 通过直接分析推断	19797662	GOA
involved in mitochondrial calcium ion transmembrane transport	IDA IDA: 通过直接分析推断	19797662	GOA
involved in mitochondrial calcium ion transmembrane transport	IMP IMP: 通过突变表型推断	32139798	GOA
involved in mitochondrial potassium ion transmembrane transport	IMP IMP: 通过突变表型推断	36055214	GOA
involved in negative regulation of mitochondrial calcium ion concentration	IMP IMP: 通过突变表型推断	26975899	GOA
involved in regulation of cellular hyperosmotic salinity response	IMP IMP: 通过突变表型推断	26975899	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	18628306	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LETM1 蛋白结构

LETM1

0
200
400
600
739 a.a.

蛋白主名

其他名称

mitochondrial proton/calcium exchanger protein

LETM1 and EF-hand domain-containing protein 1, mitochondrial

LETM1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
种属内	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Validated Y2H	32296183
种属内	LETM1	O95202	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
种属内	LETM1	O95202	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
种属内	LETM1	O95202	PSMA3	Homo sapiens	P25788	Y2H Prey Pooling	25416956
种属内	LETM1	O95202	ZNF76	Homo sapiens	P36508	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07597	LETM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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