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Cancer Genome Characterization Initiative

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


Gene Info

Gene Information For:Hs. HPS5, Hermansky-Pudlak syndrome 5
Sequence ID:NM_181507
NM_007216
NM_181508
RefSeqGene ID:NG_008877
Entrez Gene ID:11234
Ensembl ID:ENSG00000110756

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HERMANSKY-PUDLAK SYNDROME 1BLOC1S3
DTNBP1
HPS1
HPS3
HPS4
HPS6

Cytogenetic Location (from UniGene)

Cytogenetic Location:11p14Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 18300605 - 18343721

 Exon Info From UCSC:
NM_181507
NM_007216
NM_181508

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5502950Full LengthBC033640Hermansky-Pudlak syndrome 5

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_007216 NP_009147    
NM_181507 NP_852608 Q9UPZ3  
NM_181508 NP_852609    

Related Sequences

 
mRNAGenPeptSwissProt
BC033640 AAH33640 Q9UPZ3
AF534400 AAO25962 Q9UPZ3
AF534401 AAO25963 Q9UPZ3
AF534402 AAO25964 Q9UPZ3
AB023234 BAA76861 Q9UPZ3
AK291663 BAF84352 Q9UPZ3
AK292436 BAF85125 Q9UPZ3
AK024320 BAG51290 B3KNC8
AJ131721 CAB38232 Q9UPZ3

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 HPS5 NP_852608 M.musculus Hps5 246694 Gene Info NP_001005247 82
R.norvegicus Hps5 308598   NP_001129084 81

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