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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. HPS1, Hermansky-Pudlak syndrome 1
Sequence ID:NM_000195
NM_182639
NM_182637
NM_182638
RefSeqGene ID:NG_009646
Entrez Gene ID:3257
Ensembl ID:ENSG00000107521

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, peripheral nervous system, placenta, pooled tissue, prostate, salivary gland, skin, soft tissue, spleen, stem cell, stomach, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
HERMANSKY-PUDLAK SYNDROME 1BLOC1S3
DTNBP1
HPS3
HPS4
HPS5
HPS6

Cytogenetic Location (from UniGene)

Cytogenetic Location:10q23.1-q23.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:10: 100186815 - 100206676

 Exon Info From UCSC:
NM_000195
NM_182639

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100066357Full LengthBC166631Hermansky-Pudlak syndrome 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000195 NP_000186 Q92902  
NM_182639 NP_872577    

Related Sequences

 
mRNAGenPeptSwissProt
U65676 AAB17869 Q92902
U96721 AAC52074 Q92902
BC000175 AAH00175 Q92902
BC166631 AAI66631  
HQ447845 ADQ32329  
AK295821 BAG58638 B4DIX6
AL833734 CAH56230 Q658M9

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 HPS1 NP_000186 R.norvegicus Hps1 114638   NP_414541 83
M.musculus Hps1 192236 Gene Info NP_062297 81

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