Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. HPS3, Hermansky-Pudlak syndrome 3
Sequence ID:NM_032383
RefSeqGene ID:NG_009847
Entrez Gene ID:84343
Ensembl ID:ENSG00000163755

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HERMANSKY-PUDLAK SYNDROME 1BLOC1S3
DTNBP1
HPS1
HPS4
HPS5
HPS6

Cytogenetic Location (from UniGene)

Cytogenetic Location:3q24Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 148877832 - 148890748

 Exon Info From UCSC:
NM_032383

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4385940Full LengthBC040359Hermansky-Pudlak syndrome 3
2989325IncompleteBC022062Hermansky-Pudlak syndrome 3

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_032383 NP_115759 Q969F9  

Related Sequences

 
mRNAGenPeptSwissProt
BC016901 AAH16901 Q969F9
BC022062 AAH22062 Q969F9
BC040359 AAH40359 Q969F9
AY033141 AAK53457 Q969F9
DQ891178 ABM82104  
DQ894360 ABM85286  
AK026357 BAB15459 Q969F9
AK056575 BAB71221 Q969F9
AK291631 BAF84320 Q969F9
AK298478 BAG60689 B4DPS7
AL833878 CAD38735 Q8N3N1

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens HPS3 NP_115759 M.musculus Hps3 12807 Gene Info NP_542365 81
R.norvegicus Hps3 310288   NP_001101134 81

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)