BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

2014-08-01  

Identity

HGNC
BLOC1S6
LOCATION
15q21.1
LOCUSID
26258
ALIAS
BLOS6,HPS9,PA,PALLID,PLDN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26258
MIM: 604310
HGNC: 8549
Ensembl: ENSG00000104164

Variants:

dbSNP: 26258
ClinVar: 26258
TCGA: ENSG00000104164
COSMIC: BLOC1S6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104164ENST00000220531Q9UL45
ENSG00000104164ENST00000562384H3BRA4
ENSG00000104164ENST00000564310H3BPR6
ENSG00000104164ENST00000564765H3BMT8
ENSG00000104164ENST00000565216H3BR42
ENSG00000104164ENST00000565323H3BST1
ENSG00000104164ENST00000565409H3BRA4
ENSG00000104164ENST00000566801H3BN73
ENSG00000104164ENST00000567461H3BRA4
ENSG00000104164ENST00000567523Q9UL45
ENSG00000104164ENST00000568597H3BN13
ENSG00000104164ENST00000568816H3BRA4
ENSG00000104164ENST00000568963H3BML5
ENSG00000104164ENST00000569076H3BNE3

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
121910182002Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.33
125763212003Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).29
237502312013MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.21
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
280755302017Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.8

Citation

Dessen P

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54158/bloc1s6