MLC1 - modulator of VRAC current 1 Gene

中文名称：VRAC 电流调制器 1

种属: Homo sapiens

同用名: VL; LVM; MLC

基因 ID: 23209 | 基因类型: protein coding

关于 MLC1

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,059,391-50,085,875 (from NCBI)

This gene has 5 transcripts (splice variants), 189 orthologues and is associated with 3 phenotypes. Biased expression in brain (RPKM 57.6) and bone marrow (RPKM 11.2).

功能概要

该基因产物的功能未知；然而，与其他蛋白质的同源性表明它可能是一种完整的膜转运蛋白。该基因的突变与伴有皮层下囊肿的巨脑性白质脑病有关，这是一种常染色体隐性遗传神经系统疾病。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The function of this gene product is unknown; however, homology to Other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MLC1 基因产物(15)

mRNA	Protein	Name
NM_001376472.1	NP_001363401.1	membrane protein MLC1 isoform 1
NM_001376473.1	NP_001363402.1	membrane protein MLC1 isoform 1
NM_001376474.1	NP_001363403.1	membrane protein MLC1 isoform 1
NM_001376475.1	NP_001363404.1	membrane protein MLC1 isoform 1
NM_001376476.1	NP_001363405.1	membrane protein MLC1 isoform 1
NM_001376477.1	NP_001363406.1	membrane protein MLC1 isoform 1
NM_001376478.1	NP_001363407.1	membrane protein MLC1 isoform 1
NM_001376479.1	NP_001363408.1	membrane protein MLC1 isoform 2
NM_001376480.1	NP_001363409.1	membrane protein MLC1 isoform 3
NM_001376481.1	NP_001363410.1	membrane protein MLC1 isoform 4
NM_001376482.1	NP_001363411.1	membrane protein MLC1 isoform 5
NM_001376483.1	NP_001363412.1	membrane protein MLC1 isoform 5
NM_001376484.1	NP_001363413.1	membrane protein MLC1 isoform 6
NM_015166.4	NP_055981.1	membrane protein MLC1 isoform 1
NM_139202.3	NP_631941.1	membrane protein MLC1 isoform 1

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 identical protein binding	IPI IPI: 通过物理相互作用推断	15367490	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17628813	GOA
enables protein-containing complex binding	IDA IDA: 通过直接分析推断	17628813	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of intracellular transport	IDA IDA: 通过直接分析推断	19931615	GOA
involved in regulation of response to osmotic stress	IMP IMP: 通过突变表型推断	22328087	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	18165104	GOA
located in cell-cell junction	IDA IDA: 通过直接分析推断	21419380	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	15892299	GOA
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	15892299	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	15367490	GOA
located in endosome	IDA IDA: 通过直接分析推断	18165104	GOA
located in membrane	IDA IDA: 通过直接分析推断	17628813	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	19931615	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	15367490	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

蛋白主名

其他名称

membrane protein MLC1

megalencephalic leukoencephalopathy with subcortical cysts 1

MLC1 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	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
种属内	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
种属内	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
种属内	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
种属内	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
种属内	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
种属内	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
种属内	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
种属内	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
种属内	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
种属内	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
种属内	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
种属内	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
种属内	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
种属内	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
种属内	MLC1	Q15049	NEFL	Homo sapiens	P07196	Y2H Array	32814053
种属内	MLC1	Q15049	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
种属内	MLC1	Q15049	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
种属内	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Validated Y2H	32814053
种属内	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Y2H Pooling	32814053
种属内	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Y2H Array	32814053
种属内	MLC1	Q15049	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
种属内	MLC1	Q15049	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
种属内	MLC1	Q15049	WFS1	Homo sapiens	O76024	Y2H Array	32814053
种属内	MLC1	Q15049	GFAP	Homo sapiens	P14136	Y2H Array	32814053
种属内	MLC1	Q15049	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
种属内	MLC1	Q15049	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
种属内	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Y2H Pooling	32814053
种属内	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Validated Y2H	32814053
种属内	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Y2H Array	32814053
种属内	MLC1	Q15049	DR1	Homo sapiens	Q01658	Y2H Pooling	32814053
种属内	MLC1	Q15049	DR1	Homo sapiens	Q01658	Validated Y2H	32814053
种属内	MLC1	Q15049	DR1	Homo sapiens	Q01658	Y2H Array	32814053

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

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Leukodystrophy

Leukodystrophies

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1	PCLD1
Cyst	Liver Disease, Polycystic, Type 1
Polycystic Liver Disease

Megalencephaly

Macroencephaly

Macrencephaly

Bladder Neck Obstruction

Obstruction Of Bladder Neck Or Vesicourethral Orifice	Urinary Bladder Neck Obstruction
Bladder Outlet Obstruction	Vesicourethral Orifice Obstruction
Bno - [Bladder Neck Obstruction]	Bladder Obstruction Nos
Acquired Bladder Neck Obstruction	Acquired Obstruction Of Bladder Neck Or Vesicourethral Orifice
Bladder Neck Strangulation	Bladder Neck Stricture
Bladder Outflow Obstruction	Contracture Of Bladder Neck Or Sphincter
Contracture Of Bladder Neck	Obstructed Vesicourethral Orifice
Strangulation Of Vesicourethral Orifice	Stricture Of Vesicourethral Orifice
Urinary Prostatic Valve Obstruction	Vesical Obstruction

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

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-RS08485	MLC1 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	MLC1	VGNC	VGNC:74787
Bos taurus	MLC1	VGNC	VGNC:31495
Mus musculus	MLC1	MGD	MGI:2157910
Canis familiaris	MLC1	VGNC	VGNC:43255
Rattus norvegicus	MLC1	RGD	RGD:1308552
Others	MLC1	NCBI

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