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Aliases for BLOC1S3 Gene

Aliases for BLOC1S3 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3 2 3 5
  • BLOC-1 Subunit 3 2 3 4
  • BLOS3 3 4
  • Biogenesis Of Lysosome-Related Organelles Complex-1, Subunit 3 3
  • Biogenesis Of Lysosome-Related Organelles Complex-1 Subunit 3 2
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 3 3
  • Reduced Pigmentation, Mouse, Homolog Of 3
  • Hermansky-Pudlak Syndrome 8 2
  • HPS8 3
  • RP 3

External Ids for BLOC1S3 Gene

Previous GeneCards Identifiers for BLOC1S3 Gene

  • GC19P050373
  • GC19P050374
  • GC19P045682
  • GC19P042112

Summaries for BLOC1S3 Gene

Entrez Gene Summary for BLOC1S3 Gene

  • This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

GeneCards Summary for BLOC1S3 Gene

BLOC1S3 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3) is a Protein Coding gene. Diseases associated with BLOC1S3 include Hermansky-Pudlak Syndrome 8 and Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. An important paralog of this gene is ENSG00000267545.

UniProtKB/Swiss-Prot for BLOC1S3 Gene

  • Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.

Additional gene information for BLOC1S3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S3 Gene

Genomics for BLOC1S3 Gene

GeneHancer (GH) Regulatory Elements for BLOC1S3 Gene

Promoters and enhancers for BLOC1S3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I045177 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 234 3.7 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 BLOC1S3 ENSG00000267545 TRAPPC6A ZNF180 CCDC61 SYMPK RELB PPP1R37 MARK4
GH19I045078 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -98.9 -98935 2.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 IRF4 SLC30A9 GEMIN7 MARK4 ZNF227 ZNF225 IRF2BP1 ZNF235 BLOC1S3 FBXO46 ZNF226 CLASRP
GH19I045422 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +245.7 245716 3.3 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ERCC1 ZNF180 CCDC61 FBXO46 CLASRP SYMPK ENSG00000268810 ENSG00000269148 BLOC1S3 ENSG00000267114
GH19I045466 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +290.4 290351 4.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B FOSB GC19P045469 ZNF180 CLASRP CCDC61 CD3EAP FBXO46 ENSG00000269148 ENSG00000268810 BLOC1S3
GH19I044211 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 -965.9 -965944 2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF227 ZNF180 ZNF45 ZNF112 ZNF225 ENSG00000267191 ZNF283 ZNF235 ZNF224 ZNF155
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BLOC1S3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BLOC1S3 gene promoter:

Genomic Locations for BLOC1S3 Gene

Genomic Locations for BLOC1S3 Gene
chr19:45,178,745-45,217,078
(GRCh38/hg38)
Size:
38,334 bases
Orientation:
Plus strand
chr19:45,682,003-45,685,059
(GRCh37/hg19)

Genomic View for BLOC1S3 Gene

Genes around BLOC1S3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S3 Gene

Proteins for BLOC1S3 Gene

  • Protein details for BLOC1S3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6QNY0-BL1S3_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 3
    Protein Accession:
    Q6QNY0
    Secondary Accessions:
    • B2RXB8

    Protein attributes for BLOC1S3 Gene

    Size:
    202 amino acids
    Molecular mass:
    21256 Da
    Quaternary structure:
    • Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts directly with BLOC1S2.

neXtProt entry for BLOC1S3 Gene

Post-translational modifications for BLOC1S3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BLOC1S3 Gene

Domains & Families for BLOC1S3 Gene

Gene Families for BLOC1S3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BLOC1S3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S3 Gene

Graphical View of Domain Structure for InterPro Entry

Q6QNY0

UniProtKB/Swiss-Prot:

BL1S3_HUMAN :
  • Belongs to the BLOC1S3 family.
Family:
  • Belongs to the BLOC1S3 family.
genes like me logo Genes that share domains with BLOC1S3: view

Function for BLOC1S3 Gene

Molecular function for BLOC1S3 Gene

UniProtKB/Swiss-Prot Function:
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.

Phenotypes From GWAS Catalog for BLOC1S3 Gene

Gene Ontology (GO) - Molecular Function for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 15102850
genes like me logo Genes that share ontologies with BLOC1S3: view
genes like me logo Genes that share phenotypes with BLOC1S3: view

Human Phenotype Ontology for BLOC1S3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BLOC1S3 Gene

Localization for BLOC1S3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLOC1S3 gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 2
lysosome 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030133 transport vesicle IDA 17182842
GO:0031083 BLOC-1 complex IDA 15102850
GO:1904115 axon cytoplasm IEA --
genes like me logo Genes that share ontologies with BLOC1S3: view

Pathways & Interactions for BLOC1S3 Gene

genes like me logo Genes that share pathways with BLOC1S3: view

Gene Ontology (GO) - Biological Process for BLOC1S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 16385460
GO:0008089 anterograde axonal transport ISS --
GO:0030168 platelet activation IMP 16385460
GO:0031175 neuron projection development ISS --
GO:0032402 melanosome transport IDA 17182842
genes like me logo Genes that share ontologies with BLOC1S3: view

No data available for SIGNOR curated interactions for BLOC1S3 Gene

Drugs & Compounds for BLOC1S3 Gene

No Compound Related Data Available

Transcripts for BLOC1S3 Gene

Unigene Clusters for BLOC1S3 Gene

Biogenesis of lysosomal organelles complex-1, subunit 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S3 Gene

No ASD Table

Relevant External Links for BLOC1S3 Gene

GeneLoc Exon Structure for
BLOC1S3
ECgene alternative splicing isoforms for
BLOC1S3

Expression for BLOC1S3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BLOC1S3 Gene

Protein differential expression in normal tissues from HIPED for BLOC1S3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BLOC1S3 Gene



Protein tissue co-expression partners for BLOC1S3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BLOC1S3 Gene:

BLOC1S3

SOURCE GeneReport for Unigene cluster for BLOC1S3 Gene:

Hs.103902

Evidence on tissue expression from TISSUES for BLOC1S3 Gene

  • Liver(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BLOC1S3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with BLOC1S3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BLOC1S3 Gene

Orthologs for BLOC1S3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLOC1S3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLOC1S3 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia BLOC1S3 34
  • 92 (a)
OneToOne
LOC100847456 33
  • 86.83 (n)
dog
(Canis familiaris)
Mammalia BLOC1S3 33 34
  • 90.28 (n)
mouse
(Mus musculus)
Mammalia Bloc1s3 33 16 34
  • 82.88 (n)
rat
(Rattus norvegicus)
Mammalia Bloc1s3 33
  • 82.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BLOC1S3 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLOC1S3 34
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bloc1s3 34
  • 34 (a)
OneToOne
Species where no ortholog for BLOC1S3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLOC1S3 Gene

ENSEMBL:
Gene Tree for BLOC1S3 (if available)
TreeFam:
Gene Tree for BLOC1S3 (if available)

Paralogs for BLOC1S3 Gene

Paralogs for BLOC1S3 Gene

genes like me logo Genes that share paralogs with BLOC1S3: view

Variants for BLOC1S3 Gene

Sequence variations from dbSNP and Humsavar for BLOC1S3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs111903160 likely-benign, Hermansky-Pudlak syndrome 45,180,851(+) C/A/T 3_prime_UTR_variant, intron_variant
rs115683085 likely-benign, Hermansky-Pudlak syndrome 45,180,370(+) A/T 3_prime_UTR_variant, intron_variant
rs116105443 likely-benign, Hermansky-Pudlak syndrome 45,178,835(+) C/G/T intron_variant, non_coding_transcript_variant
rs116251719 likely-benign, Hermansky-Pudlak syndrome 45,180,991(+) G/A 3_prime_UTR_variant, intron_variant
rs116448245 likely-benign, Hermansky-Pudlak syndrome 45,178,784(+) A/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S3 Gene

Variant ID Type Subtype PubMed ID
esv1005203 CNV deletion 20482838
esv2422482 CNV duplication 17116639
esv29928 CNV loss 19812545
nsv833842 CNV loss 17160897
nsv833843 CNV loss 17160897
nsv833844 CNV loss 17160897

Variation tolerance for BLOC1S3 Gene

Gene Damage Index Score: 1.79; 33.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLOC1S3 Gene

Human Gene Mutation Database (HGMD)
BLOC1S3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S3 Gene

Disorders for BLOC1S3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BLOC1S3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 8
  • hps8
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
oculocutaneous albinism
  • albinism, oculocutaneous
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BL1S3_HUMAN
  • Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269 PubMed:16385460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BLOC1S3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BLOC1S3: view

No data available for Genatlas for BLOC1S3 Gene

Publications for BLOC1S3 Gene

  1. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 15102850) Starcevic M … Dell'Angelica EC (The Journal of biological chemistry 2004) 2 3 4 22 58
  2. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee HH … Hurley JH (The Journal of biological chemistry 2012) 3 4 58
  3. Genome-wide analysis of genetic loci associated with Alzheimer disease. (PMID: 20460622) Seshadri S … EADI1 Consortium (JAMA 2010) 3 44 58
  4. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 44 58
  5. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (PMID: 17182842) Setty SR … Marks MS (Molecular biology of the cell 2007) 3 4 58

Products for BLOC1S3 Gene

Sources for BLOC1S3 Gene

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