BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)

2014-11-01  

Identity

HGNC
BLOC1S5
LOCATION
6p24.3
LOCUSID
63915
ALIAS
BLOS5,HPS11,MU,MUTED
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63915
MIM: 607289
HGNC: 18561
Ensembl: ENSG00000188428

Variants:

dbSNP: 63915
ClinVar: 63915
TCGA: ENSG00000188428
COSMIC: BLOC1S5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188428ENST00000244777G5E931
ENSG00000188428ENST00000397457Q8TDH9
ENSG00000188428ENST00000543936A0A0A0MTN6
ENSG00000188428ENST00000627748A0A0D9SEU2

Expression (GTEx)

0
5
10
15
20
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

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
340580752021A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.4
346856102021A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.4
340580752021A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.4
346856102021A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.4
325655472020BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.25
325655472020BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.25
210443672010An integrative method for scoring candidate genes from association studies: application to warfarin dosing.11
210443672010An integrative method for scoring candidate genes from association studies: application to warfarin dosing.11
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
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

Citation

Dessen P

BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60763/js/css/lib/favicon/favicon-32x32.png