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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BLOC1S3, biogenesis of lysosomal organelles complex-1, subunit 3
Sequence ID:NM_212550
RefSeqGene ID:NG_008372
Entrez Gene ID:388552
Ensembl ID:ENSG00000189114

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HERMANSKY-PUDLAK SYNDROME 1DTNBP1
HPS1
HPS3
HPS4
HPS5
HPS6

Cytogenetic Location (from UniGene)

Cytogenetic Location:19q13.32Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:19: 45683617 - 45685057

NM_212550 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1874568200245682088
8825994568254545685056

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9021441Full LengthBC151151biogenesis of lysosomal organelles complex-1, subunit 3
9021442Full LengthBC151152biogenesis of lysosomal organelles complex-1, subunit 3

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_212550 NP_997715 Q6QNY0  

Related Sequences

 
mRNAGenPeptSwissProt
BC151151 AAI51152 Q6QNY0
BC151152 AAI51153 Q6QNY0
AY531266 AAT00462 Q6QNY0
AK130186 BAC85300 Q6ZP25
AK296695 BAG59289 Q6QNY0

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 BLOC1S3 NP_997715 M.musculus Bloc1s3 232946 Gene Info NP_808360 91
R.norvegicus Bloc1s3 680476   XP_001058094 91

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