MLC1 - modulator of VRAC current 1 Gene

Also Known as VL; LVM; MLC

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
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

関連疾患

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)
製品番号 製品名
製品効果
純度
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

生物種 Symbol 由来 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