Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BLOC1S5 Gene

Aliases for BLOC1S5 Gene

  • Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5 2 3 5
  • Protein Muted Homolog 3 4
  • BLOC-1 Subunit 5 3 4
  • MUTED 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted 3
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 5 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 Pancreatitis, Hereditary. 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

Regulatory Elements for BLOC1S5 Gene

Enhancers for BLOC1S5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F007999 0.6 ENCODE 19.9 +64.0 64005 1.9 ARID1B PKNOX1 TAL1 JUN MAX REST BLOC1S5 TXNDC5 BMP6 ENSG00000238221 PIR57650 GC06P007990 PIR38170
GH06F007991 0.8 Ensembl ENCODE 18.4 +71.9 71921 1.8 ELF3 TBP CBX3 ARNT RAD21 RFX5 CHAMP1 SMARCC2 RCOR1 FOS BLOC1S5 BMP6 PIP5K1P1 RIOK1 GC06P007990 PIR38170 PIR57650
GH06F007997 1 Ensembl ENCODE 18.3 +66.0 66041 0.8 MAFF CEBPB STAT3 EP300 BRCA1 SP7 BLOC1S5 BMP6 GC06P007990 PIR38170 PIR57650
GH06F007996 1.1 FANTOM5 Ensembl ENCODE 11.3 +67.4 67425 1.0 KLF17 ZNF335 ZNF366 CEBPB REST ZEB2 ZNF843 ZNF518A ZNF589 MAFF BMP6 BLOC1S5 TXNDC5 GC06P007990 PIR38170 PIR57650
GH06F007899 0.5 ENCODE 11.2 +164.7 164701 1.0 PKNOX1 ATF1 ARNT CREB3L1 YY1 ZNF766 ELK1 GATA2 JUNB NCOA1 TXNDC5 BLOC1S5 GC06P007902 PIR41509
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BLOC1S5 on UCSC Golden Path with GeneCards custom track

Promoters for BLOC1S5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001492985 314 1801 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for BLOC1S5 Gene

Chromosome:
6
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

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=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

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
  • 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

Protein Domains for BLOC1S5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLOC1S5 Gene

GenScript: Design optimal peptide antigens:

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.

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

Flow Cytometry 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
Jensen Localization Image for BLOC1S5 Gene COMPARTMENTS Subcellular localization image for BLOC1S5 gene
Compartment Confidence
cytosol 5
nucleus 3
endosome 1
extracellular 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BLOC1S5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Transcripts for BLOC1S5 Gene

Unigene Clusters for BLOC1S5 Gene

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

Flow Cytometry 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
ECgene alternative splicing isoforms for
BLOC1S5

Expression for BLOC1S5 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for BLOC1S5 Gene



Protein tissue co-expression partners for BLOC1S5 Gene

NURSA nuclear receptor signaling pathways regulating expression of BLOC1S5 Gene:

BLOC1S5

SOURCE GeneReport for Unigene cluster for BLOC1S5 Gene:

Hs.719272
genes like me logo Genes that share expression patterns with BLOC1S5: view

Primer Products

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 34
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia BLOC1S5 34
  • 90.55 (n)
-- 35
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bloc1s5 34
  • 82.35 (n)
mouse
(Mus musculus)
Mammalia Bloc1s5 34 16 35
  • 79.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves BLOC1S5 34 35
  • 67.74 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bloc1s5 34
  • 61.69 (n)
zebrafish
(Danio rerio)
Actinopterygii bloc1s5 34 35
  • 59.82 (n)
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)

Paralogs for BLOC1S5 Gene

Paralogs for BLOC1S5 Gene

(1) 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

Sequence variations from dbSNP and Humsavar for BLOC1S5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10452671 -- 8,028,364(+) atatt(A/T)aaaaa intron-variant
rs10458106 -- 8,020,234(+) ACCTA(C/T)AACAT intron-variant
rs10458217 -- 8,015,042(+) TTATG(C/T)TGCAC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1059300 -- 8,020,736(+) CAAAC(A/C)CAAAA intron-variant
rs1098321 -- 8,033,821(+) aagga(C/T)atgaa intron-variant

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)

Relevant External Links for BLOC1S5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLOC1S5 Gene

Disorders for BLOC1S5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BLOC1S5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pancreatitis, chronic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BLOC1S5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.T. (Hum. Mol. Genet. 2002) 2 3 4 64
  2. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). (PMID: 22203680) Lee H.H. … Hurley J.H. (J. Biol. Chem. 2012) 3 4 64
  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 D.W. … Corvin A.P. (Biol. Psychiatry 2008) 3 22 64
  4. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (PMID: 17182842) Setty S.R. … Marks M.S. (Mol. Biol. Cell 2007) 3 4 64
  5. 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 E.C. (J. Biol. Chem. 2004) 3 22 64

Products for BLOC1S5 Gene

Sources for BLOC1S5 Gene

Content
Loading form....