HPS1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HPS1 (HGNC:5163) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HPS
- Alias symbols
- BLOC3S1
- %HI
- 60.85(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.88(Read more about gnomAD LOEUF score)
- Cytoband
- 10q24.2
- Genomic Coordinates
-
GRCh37/hg19: chr10:100175955-100206692 NCBI Ensembl UCSC GRCh38/hg38: chr10:98413948-98446935 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000195.5 ENST00000361490.9 (Read more about MANE Select)
- Function
- Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20814
ClinGen Curation ID:
CCID:007296
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Hermansky-Pudlak syndrome 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)