Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3257
Gene name Gene Name - the full gene name approved by the HGNC.
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HPS1
Synonyms (NCBI Gene) Gene synonyms aliases
BLOC3S1, HPS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related org
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs115265574 C>G,T Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity 5 prime UTR variant, non coding transcript variant, coding sequence variant, synonymous variant
rs121908385 C>A,T Pathogenic, likely-pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, stop gained, coding sequence variant
rs121908386 C>A,T Pathogenic 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs138771756 G>T Likely-pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs150444975 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048904 hsa-miR-93-5p CLASH 23622248
MIRT043286 hsa-miR-331-3p CLASH 23622248
MIRT1054201 hsa-miR-1202 CLIP-seq
MIRT1054202 hsa-miR-3689d CLIP-seq
MIRT1054203 hsa-miR-3972 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 23084991
GO:0005515 Function Protein binding IPI 12756248, 20048159
GO:0005737 Component Cytoplasm TAS 10625677
GO:0005764 Component Lysosome TAS 10625677
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604982 5163 ENSG00000107521
Protein
UniProt ID Q92902
Protein name BLOC-3 complex member HPS1 (Hermansky-Pudlak syndrome 1 protein)
Protein 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 p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19036 Fuz_longin_1 2 159 First Longin domain of FUZ, MON1 and HPS1 Domain
PF19037 Fuz_longin_2 204 405 Second Longin domain of FUZ, MON1 and HPS1 Domain
PF19038 Fuz_longin_3 540 695 Third Longin domain of FUZ, MON1 and HPS1 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 700
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Albinism Albinism rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Hermansky-pudlak syndrome Hermanski-Pudlak Syndrome rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095
View all (101 more)
9497254, 31064749, 20662851, 14510955, 16185271, 8896559
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 9562579
Unknown
Disease term Disease name Evidence References Source
Hermansky-Pudlak Syndrome Hermansky-Pudlak syndrome 1 GenCC
Hermansky-Pudlak Syndrome With Pulmonary Fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Albinism Associate 33808351, 35488210, 39457042
Albinism Oculocutaneous Associate 16093596, 19398212, 19865097, 30791930, 33124154, 35328057, 35870188
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Associate 11590544, 15982315, 19334085, 27459687, 29941477, 30634918, 30833808
Blood Platelet Disorders Associate 14510955
Carcinoma Pancreatic Ductal Associate 33801246
Crohn Disease Associate 36302964
Granuloma Associate 36302964
Hemorrhagic Disorders Associate 19398212
Hermanski Pudlak Syndrome Associate 11564171, 11590544, 14510955, 15020272, 15982315, 16093596, 16417222, 19334085, 19398212, 24583434, 25400188, 25468649, 29941477, 30791930, 31216486
View all (6 more)
Hypopigmentation Associate 19398212