Q9UL45 (BL1S6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 6
Short name=BLOC-1 subunit 6

Alternative name(s):
Pallid protein homolog
Pallidin
Syntaxin 13-interacting protein

Gene names

Name:	BLOC1S6
Synonyms:	PA, PLDN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	172 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Ref.7 Ref.10
Subunit structure	Interacts with BLOC1S4 and DTNBP1/BLOC1S7 By similarity. Homodimer. 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 BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12. Ref.5 Ref.6 Ref.7 Ref.8 Ref.10 Ref.11
Subcellular location	Cytoplasm. Endomembrane system; Peripheral membrane protein. Note: It can exist as a soluble protein as well as a peripheral membrane protein. Ref.5 Ref.6
Tissue specificity	Widely expressed. Ref.5 Ref.6
Post-translational modification	Phosphorylated. Ref.5
Involvement in disease	Hermansky-Pudlak syndrome 9 (HPS9) [MIM:614171]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the BLOC1S6 family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing
Disease	Albinism Hermansky-Pudlak syndrome
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB anterograde synaptic vesicle transport Inferred from sequence or structural similarity. Source: UniProtKB blood coagulation Inferred from electronic annotation. Source: Compara cellular membrane fusion Inferred from electronic annotation. Source: Compara cellular membrane organization Traceable author statement. Source: Reactome endosome to melanosome transport Inferred from direct assay Ref.7. Source: UniProtKB melanocyte differentiation Inferred from electronic annotation. Source: Compara melanosome organization Non-traceable author statement Ref.11. Source: UniProtKB melanosome transport Inferred from direct assay Ref.7. Source: UniProtKB neuron projection development Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of natural killer cell activation Inferred from electronic annotation. Source: Compara positive regulation of pigment cell differentiation Inferred from direct assay Ref.7. Source: UniProtKB post-Golgi vesicle-mediated transport Traceable author statement. Source: Reactome secretion of lysosomal enzymes Inferred from electronic annotation. Source: Compara synaptic vesicle docking involved in exocytosis Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	BLOC-1 complex Inferred from direct assay Ref.6PubMed 15102850Ref.7Ref.11. Source: UniProtKB endomembrane system Inferred from electronic annotation. Source: UniProtKB-SubCell endosome Inferred from electronic annotation. Source: Compara extrinsic to membrane Inferred from direct assay Ref.6Ref.5. Source: UniProtKB transport vesicle Inferred from direct assay Ref.7. Source: UniProtKB
Molecular_function	actin filament binding Inferred from direct assay Ref.6. Source: UniProtKB protein homodimerization activity Inferred from direct assay Ref.6Ref.5. Source: UniProtKB syntaxin binding Traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		3	EBI-465781,EBI-465781
BLOC1S1	P78537	10	EBI-465781,EBI-348630
BLOC1S2	Q6QNY1	3	EBI-465781,EBI-465872
BLOC1S3	Q6QNY0	3	EBI-465781,EBI-465930
BLOC1S4	Q9NUP1	5	EBI-465781,EBI-465852
BLOC1S5	Q8TDH9	2	EBI-465781,EBI-465861
DTNBP1	Q96EV8	6	EBI-465781,EBI-465804
SNAPIN	O95295	2	EBI-465781,EBI-296723

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UL45-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UL45-2)

The sequence of this isoform differs from the canonical sequence as follows:
     76-80: QNQVV → TKLYC
     81-172: Missing.

Note: May be due to a competing acceptor splice site.

Isoform 3 (identifier: Q9UL45-3)

The sequence of this isoform is not available.

Note: May be due to exons 2 and 3 skipping. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 172	172	Biogenesis of lysosome-related organelles complex 1 subunit 6		PRO_0000058458
Regions
	Coiled coil	63 – 167	105	Potential
Natural variations
	Alternative sequence	76 – 80	5	QNQVV → TKLYC in isoform 2.		VSP_009293
	Alternative sequence	81 – 172	92	Missing in isoform 2.		VSP_009294

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 37902FCFD4802294	FASTA	172	19,744
	10 20 30 40 50 60 MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE QLAEGLLSHY 70 80 90 100 110 120 LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD INALFAEAKH YHAKLVNIRK 130 140 150 160 170 EMLMLHEKTS KLKKRALKLQ QKRQKEELER EQQREKEFER EKQLTARPAK RM
	Isoform 2 [UniParc]. Checksum: 9AF4DA442EC4C311	FASTA	80	8,599
	10 20 30 40 50 60 MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE QLAEGLLSHY 70 80 LPDLQRSKQA LQELTTKLYC
	Isoform 3 (Sequence not available).		–	–

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency." Huang L., Kuo Y.-M., Gitschier J. Nat. Genet. 23:329-332(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta.
[4]	"The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis." Falcon-Perez J.M., Dell'Angelica E.C. Pigment Cell Res. 15:82-86(2002) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW, ALTERNATIVE SPLICING.
[5]	"Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles." Moriyama K., Bonifacino J.S. Traffic 3:666-677(2002) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, PHOSPHORYLATION, INTERACTION WITH STX12 AND BLOC1S5, HOMODIMERIZATION.
[6]	"BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules." Falcon-Perez J.M., Starcevic M., Gautam R., Dell'Angelica E.C. J. Biol. Chem. 277:28191-28199(2002) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH BLOC1S5 AND F-ACTIN, HOMODIMERIZATION.
[7]	"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles." Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C., Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C., Dell'Angelica E.C., Raposo G., Marks M.S. Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION.
[8]	"The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth." Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R., Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C., Dell'Angelica E.C. Mol. Psychiatry 15:204-215(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH SNAP25; SNAP47 AND STX12.
[9]	"A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9." Cullinane A.R., Curry J.A., Carmona-Rivera C., Summers C.G., Ciccone C., Cardillo N.D., Dorward H., Hess R.A., White J.G., Adams D., Huizing M., Gahl W.A. Am. J. Hum. Genet. 88:778-787(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN HPS9.
[10]	"The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse." Larimore J., Tornieri K., Ryder P.V., Gokhale A., Zlatic S.A., Craige B., Lee J.D., Talbot K., Pare J.F., Smith Y., Faundez V. Mol. Biol. Cell 22:4854-4867(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, ASSOCIATION WITH THE AP-3 COMPLEX, INTERACTION WITH BLOC1S5.
[11]	"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)." Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C., Bonifacino J.S., Hurley J.H. J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, COMPOSITION OF THE BLOC-1 COMPLEX.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF080470 mRNA. Translation: AAF08343.1. AK057545 mRNA. No translation available. BC004819 mRNA. Translation: AAH04819.1.
IPI	IPI00018229. IPI00398304.
RefSeq	NP_036520.1. NM_012388.2.
UniGene	Hs.740391.
3D structure databases
ProteinModelPortal	Q9UL45.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UL45. 21 interactions.
MINT	MINT-1434296.
STRING	9606.ENSP00000220531.
PTM databases
PhosphoSite	Q9UL45.
Polymorphism databases
DMDM	41017511.
Proteomic databases
PaxDb	Q9UL45.
PRIDE	Q9UL45.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000220531; ENSP00000220531; ENSG00000104164. ENST00000567523; ENSP00000456624; ENSG00000104164.
GeneID	26258.
KEGG	hsa:26258.
UCSC	uc001zvq.3. human.
Organism-specific databases
CTD	26258.
GeneCards	GC15P045881.
HGNC	HGNC:8549. BLOC1S6.
HPA	HPA039928.
MIM	604310. gene. 614171. phenotype.
neXtProt	NX_Q9UL45.
Orphanet	280663. Hermansky-Pudlak syndrome type 9.
PharmGKB	PA33398.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG87432.
HOGENOM	HOG000231944.
HOVERGEN	HBG049426.
InParanoid	Q9UL45.
OMA	TKFRECN.
OrthoDB	EOG43BMQ8.
PhylomeDB	Q9UL45.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	Q9UL45.
Bgee	Q9UL45.
CleanEx	HS_PLDN.
Genevestigator	Q9UL45.
GermOnline	ENSG00000104164. Homo sapiens.
Family and domain databases
InterPro	IPR017242. BLOC-1_complex_pallidin. [Graphical view]
PIRSF	PIRSF037609. BLOC-1_complex_pallidin. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	PLDN. human.
GenomeRNAi	26258.
NextBio	48499.
SOURCE	Search...

Entry information

Entry name

BL1S6_HUMAN

Accession

Primary (citable) accession number: Q9UL45

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.