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Aliases for BLOC1S5 Gene

Aliases for BLOC1S5 Gene

  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted 2 3
  • MUTED 3 4 6
  • Protein Muted Homolog 3 4
  • BLOC-1 Subunit 5 3 4
  • BLOS5 3 6
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 5 3
  • Muted Homolog (Mouse) 2
  • Muted Homolog 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, Muted) is a Protein Coding gene. Diseases associated with BLOC1S5 include hermansky-pudlak syndrome. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. An important paralog of this gene is BLOC1S5-TXNDC5.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLOC1S5 Gene

Genomics for BLOC1S5 Gene

Genomic Location for BLOC1S5 Gene

Start:
8,013,567 bp from pter
End:
8,064,414 bp from pter
Size:
50,848 bases
Orientation:
Minus strand

Genomic View for BLOC1S5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLOC1S5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLOC1S5 Gene

No data available for Regulatory Elements 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI20106.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21645.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BLOC1S5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLOC1S5 Gene

Proteomics data for BLOC1S5 Gene at MOPED

Post-translational modifications for BLOC1S5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLOC1S5 Gene

No data available for DME Specific Peptides for BLOC1S5 Gene

Domains for BLOC1S5 Gene

Gene Families for BLOC1S5 Gene

HGNC:
  • BLOC1S :Biogenesis of lysosomal organelles complex-1 subunits

Protein Domains for BLOC1S5 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TDH9

UniProtKB/Swiss-Prot:

BL1S5_HUMAN :
  • Q8TDH9
Family:
  • Belongs to the BLOC1S5 family.
genes like me logo Genes that share domains with BLOC1S5: view

No data available for Suggested Antigen Peptide Sequences for BLOC1S5 Gene

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.

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

miRNA for BLOC1S5 Gene

miRTarBase miRNAs that target BLOC1S5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BLOC1S5 Gene

Localization for BLOC1S5 Gene

Gene Ontology (GO) - Cellular Components for BLOC1S5 Gene

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

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

Pathways for BLOC1S5 Gene

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

Gene Ontology (GO) - Biological Process for BLOC1S5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008089 anterograde axon cargo transport ISS --
GO:0016192 vesicle-mediated transport --
GO:0031175 neuron projection development ISS --
GO:0032402 melanosome transport IDA 17182842
GO:0032438 melanosome organization NAS 22203680
genes like me logo Genes that share ontologies with BLOC1S5: view

Transcripts for BLOC1S5 Gene

Unigene Clusters for BLOC1S5 Gene

Biogenesis of lysosomal organelles complex-1, subunit 5, muted:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BLOC1S5

Expression for BLOC1S5 Gene

mRNA expression in normal human tissues for BLOC1S5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLOC1S5 Gene

SOURCE GeneReport for Unigene cluster for BLOC1S5 Gene Hs.719272

genes like me logo Genes that share expressions with BLOC1S5: 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 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 35
  • 99.82 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 76 (a)
OneToMany
BLOC1S5 35
  • 90.55 (n)
  • 88.77 (a)
mouse
(Mus musculus)
Mammalia Bloc1s5 35
  • 79.64 (n)
  • 77.3 (a)
Bloc1s5 16
Bloc1s5 36
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bloc1s5 35
  • 82.35 (n)
  • 81.28 (a)
chicken
(Gallus gallus)
Aves BLOC1S5 35
  • 67.74 (n)
  • 60.96 (a)
BLOC1S5 36
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s5 35
  • 61.69 (n)
  • 61.33 (a)
zebrafish
(Danio rerio)
Actinopterygii bloc1s5 35
  • 59.82 (n)
  • 54.97 (a)
bloc1s5 36
  • 54 (a)
OneToMany
Species with no ortholog for BLOC1S5:
  • 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)

Paralogs for BLOC1S5 Gene

Paralogs for BLOC1S5 Gene

Selected SIMAP similar genes for BLOC1S5 Gene using alignment to 2 proteins:

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

Variants for BLOC1S5 Gene

Relevant External Links for BLOC1S5 Gene

HapMap Linkage Disequilibrium report
BLOC1S5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for BLOC1S5 Gene

Disorders for BLOC1S5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for BLOC1S5 Gene including...

Search for BLOC1S5 Gene in MalaCards »
genes like me logo Genes that share disorders with BLOC1S5: view

No data available for UniProtKB/Swiss-Prot 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 R.T. (Hum. Mol. Genet. 2002) 2 3 4
  2. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. (PMID: 12019270) Falcon-Perez J.M. … Dell'Angelica E.C. (J. Biol. Chem. 2002) 3 4
  3. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PMID: 12191018) Moriyama K. … Bonifacino J.S. (Traffic 2002) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for BLOC1S5 Gene

Sources for BLOC1S5 Gene

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