lysosomal trafficking regulator

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Synonym

Beige homolog, Lysosomal-trafficking regulator, CHS, LYST, lysosomal trafficking regulator, Chediak-Higashi syndrome 1, CHS1

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:28.40 cerebellum:37.80 brain stem:- corpus callosum/glia:- pineal gland:148.30 peripheral nerve:61.30 spine:- retina:118.60 eye:35.30 artery/aorta:- vein:- lymphnode:40.40 peripheral blood:54.70 spleen:113.40 thymus:193.30 bone marrow:570.70 adipose:80.70 bone:- skin:144
GeneChip cerebrum:6.90 cerebellum:7.22 brain stem:6.70 corpus callosum/glia:6.88 pineal gland:- peripheral nerve:7.31 spine:6.72 retina:- eye:- artery/aorta:7.22 vein:7.23 lymphnode:7.52 peripheral blood:- spleen:8.57 thymus:8.81 bone marrow:8.69 adipose:7.33 bone:- skin:6.71
CAGE cerebrum:2.95 cerebellum:- brain stem:2.93 corpus callosum/glia:2.65 pineal gland:4.16 peripheral nerve:- spine:3.07 retina:- eye:- artery/aorta:2.76 vein:3.18 lymphnode:2.96 peripheral blood:- spleen:3.13 thymus:4.20 bone marrow:- adipose:3.59 bone:- skin:-
RNA-seq cerebrum:1.49 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:2.56 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:2.21 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:54.70 placenta:36.40 prostate:11.30 ovary:- testis:77.90 heart:38.30 muscle:20.10 esophagus:- stomach:21.20 intestine:64.80 colon:17     liver/hepato:21.10        lung:29.30    bladder:- kidney:20.80 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:62.20 breast:55.80 salivary:-
GeneChip uterus:6.90 placenta:6.27 prostate:6.66 ovary:6.64 testis:6.78 heart:6.86 muscle:6.44 esophagus:6.95 stomach:7.73 intestine:6.48 colon:6.80 liver/hepato:7.38 lung:8 bladder:- kidney:6.75 pituitary:6.94 thyroid/parathyroid:6.90 adrenal gland:7.32 pancreas:6.45 breast:7.46 salivary:6.64
CAGE uterus:3.14 placenta:2.54 prostate:2.91 ovary:2.55 testis:2.67 heart:2.51 muscle:2.05 esophagus:2.76 stomach:- intestine:2.21 colon:2.74     liver/hepato:2.63    lung:3.36 bladder:3.06 kidney:2.05 pituitary:2.90 thyroid/parathyroid:2.51 adrenal gland:- pancreas:1.59 breast:3.40 salivary:2.06
RNA-seq uterus:- placenta:- prostate:2.23 ovary:1.68 testis:2.21 heart:1.02 muscle:0.85 esophagus:- stomach:- intestine:- colon:1.91     liver/hepato:1.03        lung:2.43    bladder:- kidney:1.34 pituitary:- thyroid/parathyroid:1.24 adrenal gland:1.72 pancreas:- breast:1.61 salivary:-

Gene Information

IDs

Refseq ID NM_000081
Gene ID 1130
Unigene ID Hs.532411
Probe set ID 210943_s_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000143669
GTEx ID ENSG00000143669

Orthologous Gene

Mouse[1]  NM_010748
Rat[1]  NM_010748

Chromosomal Region

1q42.3  [235,824,341  -  236,046,940]

Gene Family (Interpro ID)

IPR001680  WD40 repeat
IPR019782  WD40 repeat 2
IPR019781  WD40 repeat, subgroup
IPR011046  WD40 repeat-like-containing domain
IPR017986  WD40-repeat-containing domain
IPR015943  WD40/YVTN repeat-like-containing domain

Link to Pubmed  (Pubmed ID)

1672300
3013924
3322007
6154765
6445041
8717042
8751863
8751864
8896560
9145619
9215679
9215680
9606205
10482950
10648412
10737800
11102458
11857544
11984006
12125812
12446740
12477932
12753649
14759258
15896657
16344560
16710414
18043242
19620308
20301751
20463881
21139048
21488161
21890473
24072239

Gene Ontology  (GO ID)

Biological Process

GO:0007596  blood coagulation
GO:0042742  defense response to bacterium
GO:0042832  defense response to protozoan
GO:0051607  defense response to virus
GO:0032510  endosome to lysosome transport via multivesicular body sorting pathway
GO:0030595  leukocyte chemotaxis
GO:0007040  lysosome organization
GO:0033364  mast cell secretory granule organization
GO:0032438  melanosome organization
GO:0007017  microtubule-based process
GO:0042267  natural killer cell mediated cytotoxicity
GO:0002446  neutrophil mediated immunity
GO:0055091  phospholipid homeostasis
GO:0006644  phospholipid metabolic process
GO:0043473  pigmentation
GO:0032816  positive regulation of natural killer cell activation
GO:0042493  response to drug
GO:0033299  secretion of lysosomal enzymes
GO:0002456  T cell mediated immunity

Cellular Component

GO:0005829  cytosol
GO:0015630  microtubule cytoskeleton

Molecular Function

GO:0005515  protein binding