megalencephalic leukoencephalopathy with subcortical cysts 1

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Synonym

KIAA0027, MLC, LVM, Membrane protein MLC1, WKL1, VL, MLC1

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:1275.20 cerebellum:5176.10 brain stem:- corpus callosum/glia:495.70 pineal gland:- peripheral nerve:61.30 spine:- retina:- eye:11.80 artery/aorta:- vein:- lymphnode:- peripheral blood:72.90 spleen:56.70 thymus:25.80 bone marrow:78.70 adipose:- bone:12.80 skin:-
GeneChip cerebrum:7.51 cerebellum:7.29 brain stem:7.16 corpus callosum/glia:7.92 pineal gland:- peripheral nerve:4.46 spine:8.37 retina:- eye:- artery/aorta:4.41 vein:4.73 lymphnode:4.27 peripheral blood:- spleen:4.80 thymus:4.11 bone marrow:7.11 adipose:4.46 bone:- skin:4.48
CAGE cerebrum:4.89 cerebellum:- brain stem:3.89 corpus callosum/glia:5.01 pineal gland:2.46 peripheral nerve:- spine:4.73 retina:- eye:- artery/aorta:0.79 vein:0.47 lymphnode:0.71 peripheral blood:- spleen:0.95 thymus:0.68 bone marrow:- adipose:0.55 bone:- skin:-
RNA-seq cerebrum:2.06 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:0.00 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:0.11 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:9.10 placenta:36.40 prostate:11.30 ovary:- testis:82.20 heart:- muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:31.70        lung:-    bladder:- kidney:- pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
GeneChip uterus:4.31 placenta:4.61 prostate:4.24 ovary:4.26 testis:4.92 heart:4.35 muscle:4.67 esophagus:4.32 stomach:4.37 intestine:4.28 colon:4.52 liver/hepato:4.32 lung:4.79 bladder:- kidney:4.20 pituitary:4.17 thyroid/parathyroid:4.15 adrenal gland:4.10 pancreas:4.50 breast:4.27 salivary:4.20
CAGE uterus:0.85 placenta:0.85 prostate:2.44 ovary:0.92 testis:1.83 heart:0.49 muscle:0.13 esophagus:0 stomach:- intestine:0.38 colon:0.04     liver/hepato:0.14    lung:1.18 bladder:0.18 kidney:0 pituitary:0.24 thyroid/parathyroid:0.17 adrenal gland:- pancreas:0.58 breast:0 salivary:0.36
RNA-seq uterus:- placenta:- prostate:0.27 ovary:0.23 testis:0.44 heart:0.00 muscle:0.00 esophagus:- stomach:- intestine:- colon:0.00     liver/hepato:0.00        lung:0.61    bladder:- kidney:0.00 pituitary:- thyroid/parathyroid:0.00 adrenal gland:0.00 pancreas:- breast:0.00 salivary:-

Gene Information

IDs

Refseq ID NM_015166
Gene ID 23209
Unigene ID Hs.517729
Probe set ID 213395_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000100427
GTEx ID ENSG00000100427

Orthologous Gene

Mouse[1]  NM_133241
Rat [0]  

Chromosomal Region

22q13.33  [50,497,820  -  50,524,331]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

7584026
7584028
10092231
10376525
10591208
11254442
11326298
11935341
12111645
12149273
12168954
12189496
12477932
12497630
12665801
12850517
12939431
14615938
14702039
15037685
15367490
15461802
15489334
15892299
15992519
16001658
16344560
16470554
16652334
16712791
17210142
17628813
18029348
18165104
18330867
19931615
20301707
20560255
20926452
21145992
21160490
21440627
21555057
21624973
21890473
22328087
22416245
23455924
23495687
23793458
24501781

Gene Ontology  (GO ID)

Biological Process

GO:0071397  cellular response to cholesterol
GO:0006811  ion transport
GO:0032388  positive regulation of intracellular transport
GO:0051259  protein oligomerization
GO:0047484  regulation of response to osmotic stress
GO:0006810  transport
GO:0016192  vesicle-mediated transport

Cellular Component

GO:0016324  apical plasma membrane
GO:0016323  basolateral plasma membrane
GO:0005901  caveola
GO:0005911  cell-cell junction
GO:0030136  clathrin-coated vesicle
GO:0005737  cytoplasm
GO:0031410  cytoplasmic vesicle
GO:0005769  early endosome
GO:0005783  endoplasmic reticulum
GO:0005768  endosome
GO:0016021  integral to membrane
GO:0005764  lysosome
GO:0045121  membrane raft
GO:0048471  perinuclear region of cytoplasm
GO:0005886  plasma membrane
GO:0055037  recycling endosome

Molecular Function

GO:0005515  protein binding
GO:0032403  protein complex binding
GO:0008565  protein transporter activity
GO:0005215  transporter activity