MLC1 - modulator of VRAC current 1 Gene

Homo sapiens

Also known as VL; LVM; MLC

Gene ID: 23209 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	15367490	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17628813	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	17628813	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of intracellular transport	IDA IDA: Inferred from direct assay	19931615	GOA
involved in regulation of response to osmotic stress	IMP IMP: Inferred from mutant phenotype	22328087	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	18165104	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	21419380	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15892299	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	15892299	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15367490	GOA
located in endosome	IDA IDA: Inferred from direct assay	18165104	GOA
located in membrane	IDA IDA: Inferred from direct assay	17628813	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	19931615	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15367490	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

Protein Preferred Names

Protein Names

membrane protein MLC1

megalencephalic leukoencephalopathy with subcortical cysts 1

MLC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
Intra	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
Intra	MLC1	Q15049	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
Intra	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	MLC1	Q15049	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	MLC1	Q15049	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	MLC1	Q15049	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	MLC1	Q15049	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	MLC1	Q15049	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	MLC1	Q15049	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Intra	MLC1	Q15049	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Validated Y2H	32814053
Intra	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Y2H Pooling	32814053
Intra	MLC1	Q15049	ATXN10	Homo sapiens	Q9UBB4	Y2H Array	32814053
Intra	MLC1	Q15049	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	MLC1	Q15049	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	MLC1	Q15049	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	MLC1	Q15049	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	MLC1	Q15049	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	MLC1	Q15049	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053
Intra	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Y2H Pooling	32814053
Intra	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Validated Y2H	32814053
Intra	MLC1	Q15049	PRPS1	Homo sapiens	P60891	Y2H Array	32814053
Intra	MLC1	Q15049	DR1	Homo sapiens	Q01658	Y2H Pooling	32814053
Intra	MLC1	Q15049	DR1	Homo sapiens	Q01658	Validated Y2H	32814053
Intra	MLC1	Q15049	DR1	Homo sapiens	Q01658	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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-RS08485	MLC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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