Cell atlas - BLOC1S6 - The Human Protein Atlas

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BLOC1S6

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	BLOC1S6
Gene description	Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	11
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	BLOC1S6 (HGNC Symbol)
Synonyms	HPS9, PA, PLDN
Description	Biogenesis of lysosomal organelles complex-1, subunit 6, pallidin (HGNC Symbol)
Entrez gene summary	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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Chromosome	15
Cytoband	q21.1
Chromosome location (bp)	45587123 - 45615999
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000104164 (version 83.38)
Entrez gene	26258
UniProt	Q9UL45 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UL45
Antibodypedia	BLOC1S6 antibodies

PROTEIN BROWSER

BLOC1S6-001	BLOC1S6-002	BLOC1S6-004	BLOC1S6-006	BLOC1S6-007	BLOC1S6-009	BLOC1S6-012	BLOC1S6-014	BLOC1S6-015	BLOC1S6-018	BLOC1S6-019

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BLOC1S6-001 ENSP00000220531 ENST00000220531	Q9UL45 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005768 [endosome] GO:0005829 [cytosol] GO:0006892 [post-Golgi vesicle-mediated transport] GO:0007596 [blood coagulation] GO:0008089 [anterograde axon cargo transport] GO:0016081 [synaptic vesicle docking] GO:0019898 [extrinsic component of membrane] GO:0019905 [syntaxin binding] GO:0030133 [transport vesicle] GO:0030318 [melanocyte differentiation] GO:0031083 [BLOC-1 complex] GO:0031175 [neuron projection development] GO:0031201 [SNARE complex] GO:0032402 [melanosome transport] GO:0032438 [melanosome organization] GO:0032816 [positive regulation of natural killer cell activation] GO:0033299 [secretion of lysosomal enzymes] GO:0035646 [endosome to melanosome transport] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0043473 [pigmentation] GO:0048490 [anterograde synaptic vesicle transport] GO:0050942 [positive regulation of pigment cell differentiation] GO:0051015 [actin filament binding] GO:0061024 [membrane organization] GO:0061025 [membrane fusion] Show all	172 aa 19.7 kDa	No	0
BLOC1S6-002 ENSP00000457478 ENST00000566753	H3BU57 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6; HCG2001986, isoform CRA_e Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		85 aa 9.2 kDa	No	0
BLOC1S6-004 ENSP00000455021 ENST00000568816	H3BRA4 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		75 aa 9.2 kDa	No	0
BLOC1S6-006 ENSP00000456152 ENST00000567461	H3BRA4 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		75 aa 9.2 kDa	No	0
BLOC1S6-007 ENSP00000457077 ENST00000562384	H3BRA4 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		75 aa 9.2 kDa	No	0
BLOC1S6-009 ENSP00000454803 ENST00000569076	H3BNE3 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		113 aa 13.6 kDa	No	0
BLOC1S6-012 ENSP00000456067 ENST00000565216	H3BR42 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6; HCG2001986, isoform CRA_c Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		131 aa 15.4 kDa	No	0
BLOC1S6-014 ENSP00000454715 ENST00000566801	H3BN73 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		21 aa 2.4 kDa	No	0
BLOC1S6-015 ENSP00000456851 ENST00000565323	H3BST1 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] Show all	177 aa 20.3 kDa	No	0
BLOC1S6-018 ENSP00000455599 ENST00000565409	H3BRA4 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		75 aa 9.2 kDa	No	0
BLOC1S6-019 ENSP00000454537 ENST00000564765	H3BMT8 [Direct mapping] Biogenesis of lysosome-related organelles complex 1 subunit 6 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		46 aa 5.7 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.