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Q9R0C0

- BL1S6_MOUSE

UniProt

Q9R0C0 - BL1S6_MOUSE

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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

Bloc1s6

Organism
Mus musculus (Mouse)
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.4 Publications

GO - Molecular functioni

  1. actin filament binding Source: UniProtKB
  2. protein homodimerization activity Source: UniProtKB

GO - Biological processi

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

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
Pallidin
Syntaxin 13-interacting protein
Gene namesi
Name:Bloc1s6
Synonyms:P2, Pa, Pldn
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 2

Organism-specific databases

MGIiMGI:1927580. Bloc1s6.

Subcellular locationi

Cytoplasm 1 Publication. Endomembrane system 1 Publication; Peripheral membrane protein 1 Publication
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. endosome Source: MGI
  4. extrinsic component of membrane Source: UniProtKB
  5. SNARE complex Source: Ensembl
  6. transport vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Pldn are the cause of the pallid (pa) phenotype that is characterized by an altered formation or function of intracellular storage granules in melanocytes, platelets, and lysosomes in kidney. Pallid mice have a prolonged bleeding time owing to the inability of immature platelet dense granules to accumulate normal amounts of ATP, ADP, and serotonin. Pa animals also suffer from pigment dilution, kidney lysosomal enzyme elevation and serum alpha1-antitrypsin activity deficiency. Finally, pallid mice exhibit defects in otolith formation that lead to balance abnormalities.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Biogenesis of lysosome-related organelles complex 1 subunit 6PRO_0000058459Add
BLAST

Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9R0C0.
PaxDbiQ9R0C0.
PRIDEiQ9R0C0.

PTM databases

PhosphoSiteiQ9R0C0.

Expressioni

Tissue specificityi

Expressed in liver, kidney and spleen (at protein level). Ubiquitously expressed, with the highest expression levels observed in brain, heart, liver and kidney.3 Publications

Gene expression databases

BgeeiQ9R0C0.
CleanExiMM_PLDN.
GenevestigatoriQ9R0C0.

Interactioni

Subunit structurei

Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts with SNAP47 (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. Interacts with BLOC1S4, BLOC1S5, DTNBP1/BLOC1S7, F-actin, SNAP25 isoform 1 and STX12.By similarity6 Publications

Protein-protein interaction databases

BioGridi202009. 2 interactions.
IntActiQ9R0C0. 2 interactions.
MINTiMINT-4107741.

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.
InParanoidiQ9R0C0.
OMAiMLHEKTT.
OrthoDBiEOG74TX2D.
PhylomeDBiQ9R0C0.
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: Q9R0C0-1) [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
MSVPEPPPPD GVLTGPSDSL EAGEPTPGLS DTSPDEGLIE DFPVDDRAVE
60 70 80 90 100
HLVGGLLSHY LPDLQRSKRA LQELTQNQVV LLDTLEQEIS KFKECHSMLD
110 120 130 140 150
INALFTEAKH YHAKLVTIRK EMLLLHEKTS KLKKRALKLQ QKRQREELER
160 170
EQQREKEFER EKQLTAKPAK RT
Length:172
Mass (Da):19,682
Last modified:May 1, 2000 - v1
Checksum:i6B8068DF091B07D2
GO
Isoform 2 (identifier: Q9R0C0-2) [UniParc]FASTAAdd to Basket

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

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

Show »
Length:80
Mass (Da):8,569
Checksum:i7CF7F688AEE5DBE5
GO
Isoform 3 (identifier: Q9R0C0-3)

Sequence is not available

Note: May be due to exon 2 skipping.

Length:
Mass (Da):

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141T → M in strain: C57BL/6J-pa mutants. 1 Publication
Natural varianti32 – 321T → M in strain: BALB/c, CBA and C57BL/6J-pa mutants. 2 Publications

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei76 – 805QNQVV → TKLCY in isoform 2. 1 PublicationVSP_009295
Alternative sequencei81 – 17292Missing in isoform 2. 1 PublicationVSP_009296Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF079530 mRNA. Translation: AAF09262.1.
AF082574
, AF082571, AF082572, AF082573 Genomic DNA. Translation: AAF42469.1.
AK038381 mRNA. Translation: BAC29977.1.
AK077720 mRNA. Translation: BAC36979.1.
AK147116 mRNA. Translation: BAE27688.1.
AK160580 mRNA. Translation: BAE35887.1.
AL928950 Genomic DNA. Translation: CAM26697.1.
BC016554 mRNA. Translation: AAH16554.1.
CCDSiCCDS16668.1. [Q9R0C0-1]
RefSeqiNP_062762.1. NM_019788.3. [Q9R0C0-1]
UniGeneiMm.268921.

Genome annotation databases

EnsembliENSMUST00000005954; ENSMUSP00000005954; ENSMUSG00000005804. [Q9R0C0-1]
GeneIDi18457.
KEGGimmu:18457.
UCSCiuc008mbf.1. mouse. [Q9R0C0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF079530 mRNA. Translation: AAF09262.1 .
AF082574
, AF082571 , AF082572 , AF082573 Genomic DNA. Translation: AAF42469.1 .
AK038381 mRNA. Translation: BAC29977.1 .
AK077720 mRNA. Translation: BAC36979.1 .
AK147116 mRNA. Translation: BAE27688.1 .
AK160580 mRNA. Translation: BAE35887.1 .
AL928950 Genomic DNA. Translation: CAM26697.1 .
BC016554 mRNA. Translation: AAH16554.1 .
CCDSi CCDS16668.1. [Q9R0C0-1 ]
RefSeqi NP_062762.1. NM_019788.3. [Q9R0C0-1 ]
UniGenei Mm.268921.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 202009. 2 interactions.
IntActi Q9R0C0. 2 interactions.
MINTi MINT-4107741.

PTM databases

PhosphoSitei Q9R0C0.

Proteomic databases

MaxQBi Q9R0C0.
PaxDbi Q9R0C0.
PRIDEi Q9R0C0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000005954 ; ENSMUSP00000005954 ; ENSMUSG00000005804 . [Q9R0C0-1 ]
GeneIDi 18457.
KEGGi mmu:18457.
UCSCi uc008mbf.1. mouse. [Q9R0C0-1 ]

Organism-specific databases

CTDi 26258.
MGIi MGI:1927580. Bloc1s6.

Phylogenomic databases

eggNOGi NOG87432.
GeneTreei ENSGT00510000047812.
HOGENOMi HOG000231944.
HOVERGENi HBG049426.
InParanoidi Q9R0C0.
OMAi MLHEKTT.
OrthoDBi EOG74TX2D.
PhylomeDBi Q9R0C0.
TreeFami TF325188.

Miscellaneous databases

NextBioi 294148.
PROi Q9R0C0.
SOURCEi Search...

Gene expression databases

Bgeei Q9R0C0.
CleanExi MM_PLDN.
Genevestigatori Q9R0C0.

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 [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH STX12, ALTERNATIVE SPLICING, DISEASE, VARIANTS MET-14 AND MET-32.
    Strain: C57BL/6J.
    Tissue: Brain.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Strain: C57BL/6J.
    Tissue: Heart and Hypothalamus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  4. "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 2), VARIANT MET-32.
    Tissue: Mammary tumor.
  5. "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.
  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 F-ACTIN, HOMODIMERIZATION.
  7. "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.
  8. "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)."
    Ciciotte S.L., Gwynn B., Moriyama K., Huizing M., Gahl W.A., Bonifacino J.S., Peters L.L.
    Blood 101:4402-4407(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S4 AND BLOC1S5.
  9. "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)."
    Li W., Zhang Q., Oiso N., Novak E.K., Gautam R., O'Brien E.P., Tinsley C.L., Blake D.J., Spritz R.A., Copeland N.G., Jenkins N.A., Amato D., Roe B.A., Starcevic M., Dell'Angelica E.C., Elliott R.W., Mishra V., Kingsmore S.F., Paylor R.E., Swank R.T.
    Nat. Genet. 35:84-89(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DTNBP1.
  10. Cited for: FUNCTION.
  11. "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.
  12. "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, FUNCTION, INTERACTION WITH SNAP25.
  13. "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.

Entry informationi

Entry nameiBL1S6_MOUSE
AccessioniPrimary (citable) accession number: Q9R0C0
Secondary accession number(s): A2ATW6, Q3TUT4, Q91VG4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3