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MLC1

GENERAL INFORMATION

Gene name

 MLC1

Gene description

 Megalencephalic leukoencephalopathy with subcortical cysts 1

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enriched (glioma)
HPA (cell line):Cell line enhanced (HL-60, NB-4, THP-1, U-266/70, U-266/84)
HPA (normal tissue):Tissue enriched (cerebral cortex)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression, mainly in the CNS.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 2 antibodies.
HPA003040 , HPA067533
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enriched (glioma)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA003040
HPA067533

GENE INFORMATION

Gene name

 MLC1 (HGNC Symbol)

Synonyms

 KIAA0027, LVM, MLC, VL

Description

 Megalencephalic leukoencephalopathy with subcortical cysts 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 22

Cytoband

 q13.33

Chromosome location (bp)

 50059391 - 50085902

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100427 (version 83.38)

Entrez gene

 23209

UniProt

 Q15049 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15049

Antibodypedia

 MLC1 antibodies

PROTEIN BROWSER
MLC1-001
MLC1-002
MLC1-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MLC1-001
ENSP00000310375
ENST00000311597
Q15049 [Direct mapping]
Membrane protein MLC1
A0A024R4V4 [Target identity:100%; Query identity:100%]
Megalencephalic leukoencephalopathy with subcortical cysts 1, isoform CRA_a
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Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005215 [transporter activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0008565 [protein transporter activity]
GO:0015031 [protein transport]
GO:0016021 [integral component of membrane]
GO:0016192 [vesicle-mediated transport]
GO:0016323 [basolateral plasma membrane]
GO:0016324 [apical plasma membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0032388 [positive regulation of intracellular transport]
GO:0032403 [protein complex binding]
GO:0045121 [membrane raft]
GO:0047484 [regulation of response to osmotic stress]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051259 [protein oligomerization]
GO:0055037 [recycling endosome]
GO:0071397 [cellular response to cholesterol]
GO:0072584 [caveolin-mediated endocytosis]
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 377 aa
41.1 kDa 		No 7
MLC1-002
ENSP00000379216
ENST00000395876
Q15049 [Direct mapping]
Membrane protein MLC1
A0A024R4V4 [Target identity:100%; Query identity:100%]
Megalencephalic leukoencephalopathy with subcortical cysts 1, isoform CRA_a
Show all
Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005768 [endosome]
GO:0005769 [early endosome]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0008565 [protein transporter activity]
GO:0016021 [integral component of membrane]
GO:0016192 [vesicle-mediated transport]
GO:0016323 [basolateral plasma membrane]
GO:0031410 [cytoplasmic vesicle]
GO:0032388 [positive regulation of intracellular transport]
GO:0032403 [protein complex binding]
GO:0045121 [membrane raft]
GO:0047484 [regulation of response to osmotic stress]
GO:0048471 [perinuclear region of cytoplasm]
GO:0051259 [protein oligomerization]
GO:0055037 [recycling endosome]
GO:0071397 [cellular response to cholesterol]
GO:0072584 [caveolin-mediated endocytosis]
Show all
 377 aa
41.1 kDa 		No 7
MLC1-005
ENSP00000401385
ENST00000442311
A6PVC3 [Direct mapping]
Membrane protein MLC1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
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GO:0016021 [integral component of membrane]
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 223 aa
24.3 kDa 		No 5

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.