• Gene id: 26258

Gene Summary

• Gene Symbol: BLOC1S6   Gene   UCSC   Ensembl
• Aliases: BLOS6, HPS9, PA, PALLID, PLDN
• Gene name: biogenesis of lysosomal organelles complex 1 subunit 6
• Alternate names: biogenesis of lysosome-related organelles complex 1 subunit 6, BLOC-1 subunit 6, BLOC-1 subunit pallidin, biogenesis of lysosomal organelles complex-1, subunit 5, pallidin, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin, pallid protein homol,
• Gene location: 15q21.1 (45587122: 45609715)     Exons: 7     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternati
• OMIM: 604310

Protein Summary

• Protein general information: Q9UL45  
  • Name: Biogenesis of lysosome related organelles complex 1 subunit 6 (BLOC 1 subunit 6) (Pallid protein homolog) (Pallidin) (Syntaxin 13 interacting protein)
  • Length: 172  
  • Mass: 19744
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELT
  QNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELER
  EQQREKEFEREKQLTARPAKRM

• Structural information:
  • Interpro: IPR017242  IPR028119  
  • STRING: ENSP00000220531
• Other Databases: GeneCards:  BLOC1S6  Malacards:  BLOC1S6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046907	intracellular transport	IBA	biological process
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0019898	extrinsic component of membrane	IBA	cellular component
GO:0030133	transport vesicle	IBA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0050942	positive regulation of pigment cell differentiation	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0035646	endosome to melanosome transport	IDA	biological process
GO:0032402	melanosome transport	IDA	biological process
GO:0031201	SNARE complex	IDA	colocalizes with
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0030133	transport vesicle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0031175	neuron projection development	ISS	biological process
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0019905	syntaxin binding	TAS	molecular function
GO:0016081	synaptic vesicle docking	NAS	biological process
GO:0032438	melanosome organization	NAS	biological process

Diseases

Associated diseases	References
Hermansky-Pudlak syndrome	KEGG:H00166
Hermansky-Pudlak syndrome	KEGG:H00166
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray