HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1)

2014-11-01  

Identity

HGNC
HPS1
LOCATION
10q24.2
LOCUSID
3257
ALIAS
BLOC3S1,HPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3257
MIM: 604982
HGNC: 5163
Ensembl: ENSG00000107521

Variants:

dbSNP: 3257
ClinVar: 3257
TCGA: ENSG00000107521
COSMIC: HPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107521ENST00000325103Q92902
ENSG00000107521ENST00000338546Q92902
ENSG00000107521ENST00000338546A0A0S2Z3U9
ENSG00000107521ENST00000359632Q5TAA8
ENSG00000107521ENST00000361490Q92902
ENSG00000107521ENST00000414009H0Y4K4
ENSG00000107521ENST00000613394Q92902

Expression (GTEx)

0
10
20
30
40
50
60
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
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
353280572022Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.2
353280572022Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.2
338784812021Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.2
347364692021Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.8
338784812021Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.2
347364692021Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.8
332241342020HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.3
332241342020HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.3
275932002016NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.15
275932002016NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.15
230849912012BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.148
230849912012BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.148
206628512011Novel mutations in the HPS1 gene among Puerto Rican patients.8
218330172011Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.12
206628512011Novel mutations in the HPS1 gene among Puerto Rican patients.8

Citation

Dessen P

HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64416