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
382816162024GCN5L1-mediated acetylation prevents Rictor degradation in cardiac cells after hypoxic stress.0
382816162024GCN5L1-mediated acetylation prevents Rictor degradation in cardiac cells after hypoxic stress.0
365352152023The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis.3
365352152023The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis.3
355388902022Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.14
355388902022Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma.14
336802862021General Control of Amino Acid Synthesis 5-Like 1-Mediated Acetylation of Manganese Superoxide Dismutase Regulates Oxidative Stress in Diabetic Kidney Disease.14
338869572021A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.6
336802862021General Control of Amino Acid Synthesis 5-Like 1-Mediated Acetylation of Manganese Superoxide Dismutase Regulates Oxidative Stress in Diabetic Kidney Disease.14
338869572021A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.6
307763742019Cardiac-specific deletion of GCN5L1 restricts recovery from ischemia-reperfusion injury.16
317605892019GCN5L1 controls renal lipotoxicity through regulating acetylation of fatty acid oxidation enzymes.12
307763742019Cardiac-specific deletion of GCN5L1 restricts recovery from ischemia-reperfusion injury.16
317605892019GCN5L1 controls renal lipotoxicity through regulating acetylation of fatty acid oxidation enzymes.12
303331382018GCN5L1 interacts with αTAT1 and RanBP2 to regulate hepatic α-tubulin acetylation and lysosome trafficking.15

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/tumors-explorer/meetings/js/web-card-gene.js