Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)

Identity

Alias_namesGCN5L1
GCN5 general control of amino-acid synthesis 5-like 1 (yeast)
Alias_symbol (synonym)BLOS1
BORCS1
Other aliasMICoA
RT14
HGNC (Hugo) BLOC1S1
LocusID (NCBI) 2647
Atlas_Id 40695
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 56109818 and ends at 56113491 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AKT2 (19q13.2) / BLOC1S1 (12q13.2)ASGR2 (17p13.1) / BLOC1S1 (12q13.2)BLOC1S1 (12q13.2) / BLOC1S1 (12q13.2)
CBFA2T3 (16q24.3) / BLOC1S1 (12q13.2)POLR3K (16p13.3) / BLOC1S1 (12q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BLOC1S1   4200
Cards
Entrez_Gene (NCBI)BLOC1S1  2647  biogenesis of lysosomal organelles complex 1 subunit 1
AliasesBLOS1; BORCS1; GCN5L1; MICoA; 
RT14
GeneCards (Weizmann)BLOC1S1
Ensembl hg19 (Hinxton)ENSG00000135441 [Gene_View]  chr12:56109818-56113491 [Contig_View]  BLOC1S1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135441 [Gene_View]  chr12:56109818-56113491 [Contig_View]  BLOC1S1 [Vega]
ICGC DataPortalENSG00000135441
TCGA cBioPortalBLOC1S1
AceView (NCBI)BLOC1S1
Genatlas (Paris)BLOC1S1
WikiGenes2647
SOURCE (Princeton)BLOC1S1
Genetics Home Reference (NIH)BLOC1S1
Genomic and cartography
GoldenPath hg19 (UCSC)BLOC1S1  -     chr12:56109818-56113491 +  12q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BLOC1S1  -     12q13.2   [Description]    (hg38-Dec_2013)
EnsemblBLOC1S1 - 12q13.2 [CytoView hg19]  BLOC1S1 - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBIBLOC1S1 [Mapview hg19]  BLOC1S1 [Mapview hg38]
OMIM601444   
Gene and transcription
Genbank (Entrez)AI673441 AI816035 AK307069 BC066340 BC130640
RefSeq transcript (Entrez)NM_001487
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_008606 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)BLOC1S1
Cluster EST : UnigeneHs.600940 [ NCBI ]
CGAP (NCI)Hs.600940
Alternative Splicing GalleryENSG00000135441
Gene ExpressionBLOC1S1 [ NCBI-GEO ]   BLOC1S1 [ EBI - ARRAY_EXPRESS ]   BLOC1S1 [ SEEK ]   BLOC1S1 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2647
GTEX Portal (Tissue expression)BLOC1S1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78537   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78537  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78537
Splice isoforms : SwissVarP78537
PhosPhoSitePlusP78537
Domains : Interpro (EBI)BLOC1S1   
Domain families : Pfam (Sanger)GCN5L1 (PF06320)   
Domain families : Pfam (NCBI)pfam06320   
Conserved Domain (NCBI)BLOC1S1
DMDM Disease mutations2647
Blocks (Seattle)BLOC1S1
SuperfamilyP78537
Human Protein AtlasENSG00000135441
Peptide AtlasP78537
HPRD03263
IPIIPI00020319   IPI01015745   IPI01021593   IPI01021279   IPI01022192   IPI01022334   
Protein Interaction databases
DIP (DOE-UCLA)P78537
IntAct (EBI)P78537
FunCoupENSG00000135441
BioGRIDBLOC1S1
STRING (EMBL)BLOC1S1
ZODIACBLOC1S1
Ontologies - Pathways
QuickGOP78537
Ontology : AmiGOprotein binding  extracellular space  mitochondrial intermembrane space  mitochondrial matrix  lysosomal membrane  cytosol  anterograde axonal transport  aerobic respiration  endosomal transport  peptidyl-lysine acetylation  BLOC-1 complex  neuron projection development  melanosome organization  anterograde synaptic vesicle transport  platelet dense granule organization  extracellular exosome  mitophagy in response to mitochondrial depolarization  axon cytoplasm  
Ontology : EGO-EBIprotein binding  extracellular space  mitochondrial intermembrane space  mitochondrial matrix  lysosomal membrane  cytosol  anterograde axonal transport  aerobic respiration  endosomal transport  peptidyl-lysine acetylation  BLOC-1 complex  neuron projection development  melanosome organization  anterograde synaptic vesicle transport  platelet dense granule organization  extracellular exosome  mitophagy in response to mitochondrial depolarization  axon cytoplasm  
NDEx NetworkBLOC1S1
Atlas of Cancer Signalling NetworkBLOC1S1
Wikipedia pathwaysBLOC1S1
Orthology - Evolution
OrthoDB2647
GeneTree (enSembl)ENSG00000135441
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S1
HOVERGENP78537
HOGENOMP78537
Homologs : HomoloGeneBLOC1S1
Homology/Alignments : Family Browser (UCSC)BLOC1S1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S1
dbVarBLOC1S1
ClinVarBLOC1S1
1000_GenomesBLOC1S1 
Exome Variant ServerBLOC1S1
ExAC (Exome Aggregation Consortium)BLOC1S1 (select the gene name)
Genetic variants : HAPMAP2647
Genomic Variants (DGV)BLOC1S1 [DGVbeta]
DECIPHER (Syndromes)12:56109818-56113491  ENSG00000135441
CONAN: Copy Number AnalysisBLOC1S1 
Mutations
ICGC Data PortalBLOC1S1 
TCGA Data PortalBLOC1S1 
Broad Tumor PortalBLOC1S1
OASIS PortalBLOC1S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBLOC1S1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBLOC1S1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BLOC1S1
DgiDB (Drug Gene Interaction Database)BLOC1S1
DoCM (Curated mutations)BLOC1S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S1 (select a term)
intoGenBLOC1S1
Cancer3DBLOC1S1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601444   
Orphanet
MedgenBLOC1S1
Genetic Testing Registry BLOC1S1
NextProtP78537 [Medical]
TSGene2647
GENETestsBLOC1S1
Huge Navigator BLOC1S1 [HugePedia]
snp3D : Map Gene to Disease2647
BioCentury BCIQBLOC1S1
ClinGenBLOC1S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2647
Chemical/Pharm GKB GenePA28617
Clinical trialBLOC1S1
Miscellaneous
canSAR (ICR)BLOC1S1 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S1
EVEXBLOC1S1
GoPubMedBLOC1S1
iHOPBLOC1S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:57:37 CET 2017

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