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Q9UL45

- BL1S6_HUMAN

UniProt

Q9UL45 - BL1S6_HUMAN

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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

BLOC1S6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. actin filament binding Source: UniProtKB
  2. identical protein binding Source: IntAct
  3. protein homodimerization activity Source: UniProtKB
  4. syntaxin binding Source: UniProtKB

GO - Biological processi

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. blood coagulation Source: Ensembl
  4. endosome to melanosome transport Source: UniProtKB
  5. melanocyte differentiation Source: Ensembl
  6. melanosome organization Source: UniProtKB
  7. melanosome transport Source: UniProtKB
  8. membrane fusion Source: Ensembl
  9. membrane organization Source: Reactome
  10. neuron projection development Source: UniProtKB
  11. positive regulation of natural killer cell activation Source: Ensembl
  12. positive regulation of pigment cell differentiation Source: UniProtKB
  13. post-Golgi vesicle-mediated transport Source: Reactome
  14. secretion of lysosomal enzymes Source: Ensembl
  15. synaptic vesicle docking involved in exocytosis Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
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 namesi
Name:BLOC1S6
Synonyms:PA, PLDN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:8549. BLOC1S6.

Subcellular locationi

Cytoplasm. Endomembrane system; Peripheral membrane protein
Note: It can exist as a soluble protein as well as a peripheral membrane protein.

GO - Cellular componenti

  1. BLOC-1 complex Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. cytosol Source: Reactome
  4. endosome Source: Ensembl
  5. extrinsic component of membrane Source: UniProtKB
  6. transport vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

MIMi614171. phenotype.
Orphaneti280663. Hermansky-Pudlak syndrome type 9.
PharmGKBiPA33398.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Biogenesis of lysosome-related organelles complex 1 subunit 6PRO_0000058458Add
BLAST

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UL45.
PaxDbiQ9UL45.
PRIDEiQ9UL45.

PTM databases

PhosphoSiteiQ9UL45.

Expressioni

Tissue specificityi

Widely expressed.2 Publications

Gene expression databases

BgeeiQ9UL45.
CleanExiHS_PLDN.
ExpressionAtlasiQ9UL45. baseline and differential.
GenevestigatoriQ9UL45.

Organism-specific databases

HPAiHPA039928.

Interactioni

Subunit structurei

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.By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-465781,EBI-465781
BLOC1S1P7853710EBI-465781,EBI-348630
BLOC1S2Q6QNY13EBI-465781,EBI-465872
BLOC1S3Q6QNY03EBI-465781,EBI-465930
BLOC1S4Q9NUP15EBI-465781,EBI-465852
BLOC1S5Q8TDH92EBI-465781,EBI-465861
DTNBP1Q96EV86EBI-465781,EBI-465804
SNAPINO952952EBI-465781,EBI-296723

Protein-protein interaction databases

BioGridi117644. 26 interactions.
IntActiQ9UL45. 21 interactions.
MINTiMINT-1434296.
STRINGi9606.ENSP00000220531.

Structurei

3D structure databases

ProteinModelPortaliQ9UL45.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili63 – 167105Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the BLOC1S6 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG87432.
GeneTreeiENSGT00510000047812.
HOGENOMiHOG000231944.
HOVERGENiHBG049426.
InParanoidiQ9UL45.
OMAiEANRENT.
OrthoDBiEOG74TX2D.
PhylomeDBiQ9UL45.
TreeFamiTF325188.

Family and domain databases

InterProiIPR017242. BLOC-1_pallidin.
IPR028119. Snapin/Pallidin/Snn1.
[Graphical view]
PANTHERiPTHR31328. PTHR31328. 1 hit.
PfamiPF14712. Snapin_Pallidin. 1 hit.
[Graphical view]
PIRSFiPIRSF037609. BLOC-1_complex_pallidin. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UL45-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE
60 70 80 90 100
QLAEGLLSHY LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD
110 120 130 140 150
INALFAEAKH YHAKLVNIRK EMLMLHEKTS KLKKRALKLQ QKRQKEELER
160 170
EQQREKEFER EKQLTARPAK RM
Length:172
Mass (Da):19,744
Last modified:May 1, 2000 - v1
Checksum:i37902FCFD4802294
GO
Isoform 2 (identifier: Q9UL45-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:80
Mass (Da):8,599
Checksum:i9AF4DA442EC4C311
GO
Isoform 3 (identifier: Q9UL45-3)

Sequence is not available

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

Length:
Mass (Da):

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei76 – 805QNQVV → TKLYC in isoform 2. 1 PublicationVSP_009293
Alternative sequencei81 – 17292Missing in isoform 2. 1 PublicationVSP_009294Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF080470 mRNA. Translation: AAF08343.1.
AK057545 mRNA. No translation available.
BC004819 mRNA. Translation: AAH04819.1.
CCDSiCCDS10126.1. [Q9UL45-1]
RefSeqiNP_036520.1. NM_012388.2. [Q9UL45-1]
UniGeneiHs.7037.

Genome annotation databases

EnsembliENST00000220531; ENSP00000220531; ENSG00000104164. [Q9UL45-1]
ENST00000567523; ENSP00000456624; ENSG00000104164. [Q9UL45-2]
GeneIDi26258.
KEGGihsa:26258.
UCSCiuc001zvq.3. human. [Q9UL45-1]

Polymorphism databases

DMDMi41017511.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF080470 mRNA. Translation: AAF08343.1 .
AK057545 mRNA. No translation available.
BC004819 mRNA. Translation: AAH04819.1 .
CCDSi CCDS10126.1. [Q9UL45-1 ]
RefSeqi NP_036520.1. NM_012388.2. [Q9UL45-1 ]
UniGenei Hs.7037.

3D structure databases

ProteinModelPortali Q9UL45.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117644. 26 interactions.
IntActi Q9UL45. 21 interactions.
MINTi MINT-1434296.
STRINGi 9606.ENSP00000220531.

PTM databases

PhosphoSitei Q9UL45.

Polymorphism databases

DMDMi 41017511.

Proteomic databases

MaxQBi Q9UL45.
PaxDbi Q9UL45.
PRIDEi Q9UL45.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220531 ; ENSP00000220531 ; ENSG00000104164 . [Q9UL45-1 ]
ENST00000567523 ; ENSP00000456624 ; ENSG00000104164 . [Q9UL45-2 ]
GeneIDi 26258.
KEGGi hsa:26258.
UCSCi uc001zvq.3. human. [Q9UL45-1 ]

Organism-specific databases

CTDi 26258.
GeneCardsi GC15P045883.
GeneReviewsi BLOC1S6.
HGNCi HGNC:8549. BLOC1S6.
HPAi HPA039928.
MIMi 604310. gene.
614171. phenotype.
neXtProti NX_Q9UL45.
Orphaneti 280663. Hermansky-Pudlak syndrome type 9.
PharmGKBi PA33398.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG87432.
GeneTreei ENSGT00510000047812.
HOGENOMi HOG000231944.
HOVERGENi HBG049426.
InParanoidi Q9UL45.
OMAi EANRENT.
OrthoDBi EOG74TX2D.
PhylomeDBi Q9UL45.
TreeFami TF325188.

Enzyme and pathway databases

Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikii PLDN.
GenomeRNAii 26258.
NextBioi 48499.
PROi Q9UL45.
SOURCEi Search...

Gene expression databases

Bgeei Q9UL45.
CleanExi HS_PLDN.
ExpressionAtlasi Q9UL45. baseline and differential.
Genevestigatori Q9UL45.

Family and domain databases

InterProi IPR017242. BLOC-1_pallidin.
IPR028119. Snapin/Pallidin/Snn1.
[Graphical view ]
PANTHERi PTHR31328. PTHR31328. 1 hit.
Pfami PF14712. Snapin_Pallidin. 1 hit.
[Graphical view ]
PIRSFi PIRSF037609. BLOC-1_complex_pallidin. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiBL1S6_HUMAN
AccessioniPrimary (citable) accession number: Q9UL45
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 2000
Last modified: November 26, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3