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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BLOC1S5 Gene

protein-coding GIFtS: 45
GCID: GC06M008014

biogenesis of lysosomal organelles complex-1, subunit 5,...

(Previous name: muted homolog (mouse) )
(Previous symbol: MUTED)

Explore 2 diseases affiliated with
BLOC1S5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted¹ ²		DJ303A1.3¹
MUTED¹ ² ³ ⁵		Muted Homolog (Mouse)¹
MU¹ ² ⁵		Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 5²
Protein Muted Homolog² ³		Muted Homolog²
BLOC-1 Subunit 5² ³

External Ids:	HGNC: 18561¹	Entrez Gene: 63915²	Ensembl: ENSG00000188428⁷	OMIM: 607289⁵	UniProtKB: Q8TDH9³

ORGUL members:
	NONCODE:n410472

Export aliases for BLOC1S5 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BLOC1S5:

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)

UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9

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 Wiki entry for BLOC1S5 (MUTED)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for BLOC1S5
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLOC1S5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p25.1-p24.3 Ensembl cytogenetic band: 6p24.3 HGNC cytogenetic band: 6p25.1-p24.3

BLOC1S5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S5 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M008014: view genomic region (about GC identifiers)

Start:	8,013,800 bp from pter	End:	8,064,647 bp from pter
Size:	50,848 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9 (See protein sequence)

Recommended Name: Biogenesis of lysosome-related organelles complex 1 subunit 5

Size: 187 amino acids; 21609 Da

Subunit: 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

Sequence caution: Sequence=AAH32438.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAI20106.1; Type=Erroneous gene model prediction; Sequence=CAI21645.1; Type=Erroneous gene model prediction;

Secondary accessions: B4DVM2 Q0VDJ6 Q0VDJ7 Q5THS1 Q68D56 Q8N5F9 Q9NU16

Alternative splicing: 3 isoforms: Q8TDH9-1 Q8TDH9-2 Q8TDH9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BLOC1S5: NX_Q8TDH9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8TDH9

BLOC1S5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001186251.1 NP_001186252.1 NP_958437.1

ENSEMBL proteins:

ENSP00000380598 ENSP00000244777 ENSP00000445215

Human Recombinant Protein Products for BLOC1S5:

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	Uscn Proteins for BLOC1S5

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030133	transport vesicle	IDA	17182842
GO:0031083	BLOC-1 complex	IDA	--

BLOC1S5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for BLOC1S5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BLOC1S5 for domains About GeneDecksing

1 InterPro domain/family:

IPR017243 BLOC-1_complex_muted_subunit

Graphical View of Domain Structure for InterPro Entry Q8TDH9

ProtoNet protein and cluster: Q8TDH9

UniProtKB/Swiss-Prot: BL1S5_HUMAN, Q8TDH9

Similarity: Belongs to the BLOC1S5 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: BL1S5_HUMAN, Q8TDH9

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): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--

BLOC1S5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for BLOC1S5:

Decreased viability of wild-ty

11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Bloc1s5):

behavior/neurological	cellular	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	integument	no phenotypic analysis	pigmentation	renal/urinary system
vision/eye

BLOC1S5 for phenotypes About GeneDecksing

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLOC1S5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BLOC1S5

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/12 Interacting proteins for BLOC1S5 (Q8TDH9^{1, 3} ENSP00000380598⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DTNBP1	Q96EV8¹^,³, ENSP00000341680⁴	EBI-465861,EBI-465804 I2D: score=4 STRING: ENSP00000341680
BLOC1S6	Q9UL45¹^,³, ENSP00000220531⁴	EBI-465861,EBI-465781 I2D: score=2 STRING: ENSP00000220531
BLOC1S2	Q6QNY1¹^,³	EBI-465861,EBI-465872 I2D: score=4
BLOC1S4	Q9NUP1³, ENSP00000318128⁴	I2D: score=3 STRING: ENSP00000318128
SNAPIN	O95295³, ENSP00000357674⁴	I2D: score=1 STRING: ENSP00000357674

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008089	anterograde axon cargo transport	ISS	--
GO:0031175	neuron projection development	ISS	--
GO:0032402	melanosome transport	IDA	17182842
GO:0032438	melanosome organization	NAS	--
GO:0035646	endosome to melanosome transport	IDA	17182842

BLOC1S5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BLOC1S5
Search CenterWatch for drugs/clinical trials and news about BLOC1S5 / BL1S5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BLOC1S5 gene (3 alternative transcripts):

NM_001199322.1 NM_001199323.1 NM_201280.2

Unigene Cluster for BLOC1S5:

Biogenesis of lysosomal organelles complex-1, subunit 5, muted

Hs.719272 [show with all ESTs]

Unigene Representative Sequence: NM_001199322

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000397457(uc010job.3 uc010joc.3 uc003mxy.3 uc021ylf.1 uc021ylg.1)

ENST00000244777 ENST00000475998 ENST00000486432 ENST00000543936

miRNA Products:		OriGene 3'-UTR Clone: BLOC1S5 Browse OriGene MicroRNA Expression Plasmids
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Additional cDNA sequence:

AF426434.1 AK025442.1 AK301142.1 AK311385.1 BC032438.1 BC119644.1 BC119645.1 BX647336.1

CR749569.1

7 DOTS entries:

DT.411366 DT.121351929 DT.99937235 DT.40235570 DT.100877421 DT.121351870 DT.95168574

24/1254 AceView cDNA sequences (see all 1254):

W72030 AA582834 CB158696 CA447898 BF171471 BU542309 AI186619 BU944744

BQ682284 BP375567 CA431793 BM799053 BU538863 BE383086 BE388413 AA020787

BU190882 CN480720 BI333289 CA423837 BM769854 NM_030810 AA843714 BM561682

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BLOC1S5 (see all 6) About this scheme

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:

ECgene alternative splicing isoforms for BLOC1S5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

See BLOC1S5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BLOC1S5

SOURCE GeneReport for Unigene cluster: Hs.719272

SABiosciences Custom PCR Arrays for BLOC1S5

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BLOC1S5 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bloc1s5^{1 , 5}	muted⁵ biogenesis of organelles complex-1, subunit 5, muted¹	79.64(n)¹ 77.3(a)¹		13 (18.35 cM)⁵ 17828¹ NM_139063.1¹ NP_620702.1¹ 38602709⁵
chicken (Gallus gallus)	Aves	MUTED¹	muted homolog (mouse)	69.23(n) 63.91(a)		420866 NM_001006373.1 NP_001006373.1
lizard (Anolis carolinensis)	Reptilia	MUTED⁶	--	59(a)	1 → many	GL343209.1(971333-979520)
zebrafish (Danio rerio)	Actinopterygii	zgc:113385¹	zgc:113385	59.82(n) 54.97(a)		324781 NM_001030066.1 NP_001025237.1
honey bee (Apis mellifera)	Insecta	--	--	32(a)	1 → many	Group9.5(434752-435602)

ENSEMBL Gene Tree for BLOC1S5 (if available)
TreeFam Gene Tree for BLOC1S5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BLOC1S5 gene

BLOC1S5-TXNDC5²

BLOC1S5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116611782^1,2	F	--	8013314(+)	`ATGGTT/GGTACA`	5	--	ds500¹ int¹		3		WA NA EA	358
rs6932777^1,2	C	--	8013334(+)	`tatcaC/Gctact`	5	--	ds500¹ int¹		1		CSA	1
rs12194152^1,2		--	8013374(+)	`acccaA/Ggaggc`	5	--	ds500¹ int¹		0	--	--	--	--
rs142058505^1,2		--	8013397(+)	`GAGCCA/GAGATC`	5	--	ds500¹ int¹		0	--	--	--	--
rs2748374^1,2	C,A	--	8013533(+)	`TATATC/AAAAAG`	5	--	ds500¹ int¹		7		NA WA EA	366
rs184008505^1,2		--	8013624(+)	`AGAAGC/TTATGT`	5	--	int¹ ds500¹		0	--	--	--	--
rs188952898^1,2		--	8013669(+)	`TATAGA/GAGCTA`	5	--	ds500¹ int¹		0	--	--	--	--
rs72542863^1,2	C	--	8013699(+)	`TACAA-/GGAAAC`	5	--	ds500¹ int¹		0	--	--	--	--
rs201834511^1,2	C	--	8013699(+)	`TTACAA/GGAAAC`	5	--	ds500¹ int¹		0	--	--	--	--
rs11433972^1,2	C	--	8013700(+)	`ACAAGG/-AAACA`	5	--	ds500¹ int¹		1		NA	2

HapMap Linkage Disequilibrium report for BLOC1S5 (8013800 - 8064647 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BLOC1S5: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLOC1S5

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BLOC1S5 for disorders           About GeneDecksing

OMIM gene information: 607289    OMIM disorders: --

2 diseases for BLOC1S5:    About MalaCards

hermansky-pudlak syndrome schizophrenia

Export disorders for BLOC1S5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for BLOC1S5 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with BLOC1S5)

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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. (PubMed id 11912185)^{1, 2, 3} Zhang Q.... Swank R.T. (2002)
BLOC-1 is required for cargo-specific sorting from va cuolar early endosomes toward lysosome-related organelles. (PubMed id 17182842)^{1, 2} Setty S.R....Marks M.S. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. (PubMed id 12191018)^{1, 2} Moriyama K. and Bonifacino J.S. (2002)
BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. (PubMed id 12019270)^{1, 2} Falcon-Perez J.M.... Dell'Angelica E.C. (2002)
Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PubMed id 17618940)^{1, 9} Morris D.W....Corvin A.P. (2008)
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). (PubMed id 15102850)^{1, 9} Starcevic M. and Dell'Angelica E.C. (2004)
Assembly and architecture of biogenesis of lysosome-re lated organelles complex-1 (BLOC-1). (PubMed id 22203680)² Lee H.H....Hurley J.H. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 63915	HGNC: 18561	AceView: EEF1E1	Ensembl:ENSG00000188428	euGenes: HUgn63915
ECgene: BLOC1S5	H-InvDB: BLOC1S5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BLOC1S5	Pharmacogenomics, SNPs, Pathways

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