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Symbol report for HPS1

Stable symbol

HGNC data for HPS1

Approved symbol
HPS1
Approved name

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Locus type
gene with protein product
HGNC ID
HGNC:5163
Symbol status
Approved
Previous symbols
HPS
Previous names
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 1
Alias symbols
BLOC3S1
Chromosomal location
10q24.2
Gene groups
Gene resources for HPS1
Ensembl
ENSG00000107521 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
3257 Curated
UCSC
uc057vhe.1
Alliance of Genome Resources
HGNC:5163
Nucleotide resources for HPS1
MANE Select
NM_000195.5
ENST00000361490.9
INSDC
U79136 Curated
ENAGenBankDDBJ
RefSeq
NM_000195 Curated
NCBI sequence viewer
NM_182637 Curated
NCBI sequence viewer
NM_182638 Curated
NCBI sequence viewer
NM_182639 Curated
NCBI sequence viewer
Protein resources for HPS1
UniProt/Swiss-Prot
Q92902
InterProPDBeReactome
AlphaFold
AF-Q92902-F1
Orthologs from selected species for HPS1
Bos taurus
HPS1 VGNC:29943 VGNC
Canis familiaris
HPS1 VGNC:41774 VGNC
Equus caballus
HPS1 VGNC:18861 VGNC
Felis catus
HPS1 VGNC:67640 VGNC
Macaca mulatta
HPS1 VGNC:73515 VGNC
Mus musculus
Hps1 MGI:2177763 Curated
Pan troglodytes
HPS1 VGNC:8881 VGNC
Rattus norvegicus
Hps1 RGD:69193
Sus scrofa
HPS1 VGNC:88964 VGNC
Clinical resources for HPS1
OMIM
604982
LRG
LRG_562 Curated
LSDB
Albinism Database Curated
Mutations of the ep-Gene Curated
GenCC
HGNC:5163
MedlinePlus
Search via HPS1
DECIPHER
Search via HPS1
ClinGen
Search via HGNC:5163
Genetic Testing Registry
Search via NCBI Gene ID 3257
ClinVar
Search via NCBI Gene ID 3257
dbVar
Search via NCBI Gene ID 3257
Orphanet
122480
Other resources for HPS1
AmiGO
Search via Q92902
QuickGO
Search via Q92902
BioGPS
Search via NCBI Gene ID 3257
GeneCards
Search via HGNC:5163
Monarch
Search via HGNC:5163
WikiGenes
Search via NCBI Gene ID 3257
References for HPS1