This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-throug... See more...

Aliases for BLOC1S5 Gene

Aliases for BLOC1S5 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5 2 3 5
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 5 3 4
  • Protein Muted Homolog 3 4
  • BLOC-1 Subunit 5 3 4
  • MUTED 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted 3
  • Muted Homolog (Mouse) 2
  • Muted Homolog 3
  • BLOS5 3
  • MU 3

External Ids for BLOC1S5 Gene

Previous HGNC Symbols for BLOC1S5 Gene

  • MUTED

Summaries for BLOC1S5 Gene

Entrez Gene Summary for BLOC1S5 Gene

  • This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for BLOC1S5 Gene

BLOC1S5 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5) is a Protein Coding gene. Diseases associated with BLOC1S5 include Hermansky-Pudlak Syndrome and Motion Sickness. An important paralog of this gene is BLOC1S5-TXNDC5.

UniProtKB/Swiss-Prot Summary for BLOC1S5 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.

Gene Wiki entry for BLOC1S5 Gene

Additional gene information for BLOC1S5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BLOC1S5 Gene

Genomics for BLOC1S5 Gene

GeneHancer (GH) Regulatory Elements for BLOC1S5 Gene

Promoters and enhancers for BLOC1S5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BLOC1S5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BLOC1S5

Genomic Locations for BLOC1S5 Gene

Genomic Locations for BLOC1S5 Gene
chr6:8,013,567-8,064,414
(GRCh38/hg38)
Size:
50,848 bases
Orientation:
Minus strand
chr6:8,013,800-8,064,647
(GRCh37/hg19)
Size:
50,848 bases
Orientation:
Minus strand

Genomic View for BLOC1S5 Gene

Genes around BLOC1S5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLOC1S5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLOC1S5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S5 Gene

Proteins for BLOC1S5 Gene

  • Protein details for BLOC1S5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDH9-BL1S5_HUMAN
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 5
    Protein Accession:
    Q8TDH9
    Secondary Accessions:
    • B4DVM2
    • Q0VDJ6
    • Q0VDJ7
    • Q5THS1
    • Q68D56
    • Q8N5F9
    • Q9NU16

    Protein attributes for BLOC1S5 Gene

    Size:
    187 amino acids
    Molecular mass:
    21609 Da
    Quaternary structure:
    • Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A (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 with BLOC1S6.
    SequenceCaution:
    • Sequence=AAH32438.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for BLOC1S5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLOC1S5 Gene

Post-translational modifications for BLOC1S5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S5 Gene

Antibody Products

  • Abcam antibodies for BLOC1S5
  • Biorbyt antibodies for BLOC1S5
  • Santa Cruz Biotechnology (SCBT) Antibodies for BLOC1S5

No data available for DME Specific Peptides for BLOC1S5 Gene

Domains & Families for BLOC1S5 Gene

Gene Families for BLOC1S5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BLOC1S5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S5 Gene

GenScript: Design optimal peptide antigens:
  • Protein Muted homolog (MUTED_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDH9

UniProtKB/Swiss-Prot:

BL1S5_HUMAN :
  • Belongs to the BLOC1S5 family.
Family:
  • Belongs to the BLOC1S5 family.
genes like me logo Genes that share domains with BLOC1S5: view

Function for BLOC1S5 Gene

Molecular function for BLOC1S5 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 BLOC1S5 Gene

Gene Ontology (GO) - Molecular Function for BLOC1S5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12019270
genes like me logo Genes that share ontologies with BLOC1S5: view
genes like me logo Genes that share phenotypes with BLOC1S5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLOC1S5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BLOC1S5 Gene

Localization for BLOC1S5 Gene

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 BLOC1S5 gene
Compartment Confidence
cytosol 5
nucleus 3
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BLOC1S5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0030133 transport vesicle IEA,IDA 17182842
GO:0031083 BLOC-1 complex IEA,IDA 15102850
GO:1904115 axon cytoplasm IEA --
genes like me logo Genes that share ontologies with BLOC1S5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BLOC1S5 Gene

Pathways & Interactions for BLOC1S5 Gene

PathCards logo

SuperPathways for BLOC1S5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BLOC1S5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008089 anterograde axonal transport ISS --
GO:0031175 neuron projection development ISS --
GO:0032402 melanosome transport IDA 17182842
GO:0032438 melanosome organization NAS 22203680
GO:0035646 endosome to melanosome transport IDA 17182842
genes like me logo Genes that share ontologies with BLOC1S5: view

No data available for Pathways by source and SIGNOR curated interactions for BLOC1S5 Gene

Drugs & Compounds for BLOC1S5 Gene

No Compound Related Data Available

Transcripts for BLOC1S5 Gene

mRNA/cDNA for BLOC1S5 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLOC1S5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for BLOC1S5 Gene

GeneLoc Exon Structure for
BLOC1S5

Expression for BLOC1S5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BLOC1S5 Gene

Protein differential expression in normal tissues from HIPED for BLOC1S5 Gene

This gene is overexpressed in Ovary (10.6), Peripheral blood mononuclear cells (8.4), and Skin (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BLOC1S5 Gene



Protein tissue co-expression partners for BLOC1S5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BLOC1S5

SOURCE GeneReport for Unigene cluster for BLOC1S5 Gene:

Hs.719272

Evidence on tissue expression from TISSUES for BLOC1S5 Gene

  • Spleen(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with BLOC1S5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLOC1S5 Gene

Orthologs for BLOC1S5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLOC1S5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUTED 30
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia BLOC1S5 30
  • 90.55 (n)
-- 31
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bloc1s5 30
  • 82.35 (n)
mouse
(Mus musculus)
Mammalia Bloc1s5 17 31 30
  • 79.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves BLOC1S5 31 30
  • 67.74 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s5 30
  • 61.69 (n)
zebrafish
(Danio rerio)
Actinopterygii bloc1s5 31 30
  • 59.82 (n)
OneToMany
Species where no ortholog for BLOC1S5 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLOC1S5 Gene

ENSEMBL:
Gene Tree for BLOC1S5 (if available)
TreeFam:
Gene Tree for BLOC1S5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLOC1S5: view image

Paralogs for BLOC1S5 Gene

Paralogs for BLOC1S5 Gene

(1) SIMAP similar genes for BLOC1S5 Gene using alignment to 2 proteins:

  • BL1S5_HUMAN
  • G5E931_HUMAN
genes like me logo Genes that share paralogs with BLOC1S5: view

Variants for BLOC1S5 Gene

Additional dbSNP identifiers (rs#s) for BLOC1S5 Gene

Structural Variations from Database of Genomic Variants (DGV) for BLOC1S5 Gene

Variant ID Type Subtype PubMed ID
esv2731544 CNV deletion 23290073
esv3306258 CNV mobile element insertion 20981092
esv3356211 CNV insertion 20981092
esv3570754 CNV loss 25503493
esv3576096 CNV gain 25503493
nsv1074375 CNV deletion 25765185
nsv1109758 CNV deletion 24896259
nsv1124025 CNV deletion 24896259
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv600924 CNV gain 21841781
nsv600927 CNV gain 21841781

Variation tolerance for BLOC1S5 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLOC1S5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLOC1S5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BLOC1S5 Gene

Disorders for BLOC1S5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BLOC1S5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
motion sickness
  • travel sickness
arthrogryposis, renal dysfunction, and cholestasis 1
  • arcs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BLOC1S5

genes like me logo Genes that share disorders with BLOC1S5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BLOC1S5 Gene

Publications for BLOC1S5 Gene

  1. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. (PMID: 11912185) Zhang Q … Swank RT (Human molecular genetics 2002) 2 3 4 54
  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 54
  3. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PMID: 17618940) Morris DW … Corvin AP (Biological psychiatry 2008) 3 23 54
  4. 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 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for BLOC1S5 Gene

  • Biorbyt antibodies for BLOC1S5

Sources for BLOC1S5 Gene