BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)

2014-08-01 Affiliation

Identity

HGNC

LOCATION

15q21.1

LOCUSID

ALIAS

BLOS6,HPS9,PA,PALLID,PLDN

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104164	ENST00000220531	Q9UL45
ENSG00000104164	ENST00000562384	H3BRA4
ENSG00000104164	ENST00000564310	H3BPR6
ENSG00000104164	ENST00000564765	H3BMT8
ENSG00000104164	ENST00000565216	H3BR42
ENSG00000104164	ENST00000565323	H3BST1
ENSG00000104164	ENST00000565409	H3BRA4
ENSG00000104164	ENST00000566801	H3BN73
ENSG00000104164	ENST00000567461	H3BRA4
ENSG00000104164	ENST00000567523	Q9UL45
ENSG00000104164	ENST00000568597	H3BN13
ENSG00000104164	ENST00000568816	H3BRA4
ENSG00000104164	ENST00000568963	H3BML5
ENSG00000104164	ENST00000569076	H3BNE3

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
trans-Golgi Network Vesicle Budding	REACTOME	R-HSA-199992
Clathrin derived vesicle budding	REACTOME	R-HSA-421837
Golgi Associated Vesicle Biogenesis	REACTOME	R-HSA-432722

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28075530	2017	Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.	15
28075530	2017	Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.	15
26288249	2015	Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.	25
26288249	2015	Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.	25
23750231	2013	MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.	24
23750231	2013	MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.	24
12576321	2003	Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).	32
12576321	2003	Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).	32
12191018	2002	Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.	39
12191018	2002	Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.	39

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/teaching-explorer/css/lib/js/lib/bootstrap.min.js