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MLC1 - modulator of VRAC current 1 Gene

Also Known as VL; LVM; MLC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23209

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08485	MLC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08909	MYL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MLC1	NCBI