BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)

2003-05-01  

Identity

HGNC
BLOC1S1
LOCATION
12q13.2
LOCUSID
2647
ALIAS
BLOS1,BORCS1,GCN5L1,MICoA,RT14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2647
MIM: 601444
HGNC: 4200
Ensembl: ENSG00000135441

Variants:

dbSNP: 2647
ClinVar: 2647
TCGA: ENSG00000135441
COSMIC: BLOC1S1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135441ENST00000547076G8JLQ3
ENSG00000135441ENST00000548556G8JLQ3
ENSG00000135441ENST00000548925P78537
ENSG00000135441ENST00000549147F8VP73
ENSG00000135441ENST00000551926F8W606
ENSG00000135441ENST00000553100H0YHA4

Expression (GTEx)

0
50
100
150
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
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720

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
rectum
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
192465702009Exploring the human genome with functional maps.108
151028502004Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).103
223092132012Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1.85
223092132012Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1.85
224230912012Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.50
236766662013The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.42
176189402008Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility.19
225541962012The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
258701072015Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.17

Citation

Dessen P

BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40695/bloc1s1