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Q9UL45 (BL1S6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length172 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentCytoplasm
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseAlbinism
Hermansky-Pudlak syndrome
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterograde 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: Ensembl

endosome to melanosome transport

Inferred from direct assay Ref.7. Source: UniProtKB

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

melanosome organization

Non-traceable author statement Ref.11. Source: UniProtKB

melanosome transport

Inferred from direct assay Ref.7. Source: UniProtKB

membrane organization

Traceable author statement. Source: Reactome

neuron projection development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of natural killer cell activation

Inferred from electronic annotation. Source: Ensembl

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: Ensembl

synaptic vesicle docking involved in exocytosis

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentBLOC-1 complex

Inferred from direct assay Ref.6PubMed 15102850Ref.7Ref.11. Source: UniProtKB

cytoplasm

Inferred from direct assay Ref.6Ref.5. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

endosome

Inferred from electronic annotation. Source: Ensembl

extrinsic component of membrane

Inferred from direct assay Ref.6Ref.5. Source: UniProtKB

transport vesicle

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functionactin filament binding

Inferred from direct assay Ref.6. Source: UniProtKB

identical protein binding

Inferred from physical interaction PubMed 15102850PubMed 16189514. Source: IntAct

protein binding

Inferred from physical interaction Ref.5Ref.8Ref.10. 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...

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 172172Biogenesis of lysosome-related organelles complex 1 subunit 6
PRO_0000058458

Regions

Coiled coil63 – 167105 Potential

Natural variations

Alternative sequence76 – 805QNQVV → TKLYC in isoform 2.
VSP_009293
Alternative sequence81 – 17292Missing in isoform 2.
VSP_009294

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 37902FCFD4802294

FASTA17219,744
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 9AF4DA442EC4C311
Show »

FASTA808,599
Isoform 3 (Sequence not available).

References

« Hide '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. expand/collapse author list , 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.
CCDSCCDS10126.1. [Q9UL45-1]
RefSeqNP_036520.1. NM_012388.2. [Q9UL45-1]
UniGeneHs.7037.

3D structure databases

ProteinModelPortalQ9UL45.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117644. 24 interactions.
IntActQ9UL45. 21 interactions.
MINTMINT-1434296.
STRING9606.ENSP00000220531.

PTM databases

PhosphoSiteQ9UL45.

Polymorphism databases

DMDM41017511.

Proteomic databases

MaxQBQ9UL45.
PaxDbQ9UL45.
PRIDEQ9UL45.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000220531; ENSP00000220531; ENSG00000104164. [Q9UL45-1]
ENST00000567523; ENSP00000456624; ENSG00000104164. [Q9UL45-2]
GeneID26258.
KEGGhsa:26258.
UCSCuc001zvq.3. human. [Q9UL45-1]

Organism-specific databases

CTD26258.
GeneCardsGC15P045881.
GeneReviewsBLOC1S6.
HGNCHGNC:8549. BLOC1S6.
HPAHPA039928.
MIM604310. gene.
614171. phenotype.
neXtProtNX_Q9UL45.
Orphanet280663. Hermansky-Pudlak syndrome type 9.
PharmGKBPA33398.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG87432.
HOGENOMHOG000231944.
HOVERGENHBG049426.
InParanoidQ9UL45.
OMAEANRENT.
OrthoDBEOG74TX2D.
PhylomeDBQ9UL45.
TreeFamTF325188.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressQ9UL45.
BgeeQ9UL45.
CleanExHS_PLDN.
GenevestigatorQ9UL45.

Family and domain databases

InterProIPR017242. BLOC-1_pallidin.
IPR028119. Snapin/Pallidin/Snn1.
[Graphical view]
PANTHERPTHR31328. PTHR31328. 1 hit.
PfamPF14712. Snapin_Pallidin. 1 hit.
[Graphical view]
PIRSFPIRSF037609. BLOC-1_complex_pallidin. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPLDN. human.
GeneWikiPLDN.
GenomeRNAi26258.
NextBio48499.
PROQ9UL45.
SOURCESearch...

Entry information

Entry nameBL1S6_HUMAN
AccessionPrimary (citable) accession number: Q9UL45
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM