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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

Bloc1s6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-MMU-432722 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
Pallidin
Syntaxin 13-interacting protein
Gene namesi
Name:Bloc1s6
Synonyms:P2, Pa, Pldn
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:1927580 Bloc1s6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
ChainiPRO_00000584591 – 172Biogenesis of lysosome-related organelles complex 1 subunit 6Add BLAST172

Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9R0C0
PaxDbiQ9R0C0
PeptideAtlasiQ9R0C0
PRIDEiQ9R0C0

PTM databases

PhosphoSitePlusiQ9R0C0

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

BgeeiENSMUSG00000005804 Expressed in 277 organ(s), highest expression level in vestibular organ
CleanExiMM_PLDN
GenevisibleiQ9R0C0 MM

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi202009, 2 interactors
ComplexPortaliCPX-1913 BLOC-1 complex
CORUMiQ9R0C0
IntActiQ9R0C0, 2 interactors
MINTiQ9R0C0
STRINGi10090.ENSMUSP00000005954

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili63 – 167Sequence analysisAdd BLAST105

Sequence similaritiesi

Belongs to the BLOC1S6 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IX0Y Eukaryota
ENOG4112BUE LUCA
GeneTreeiENSGT00510000047812
HOGENOMiHOG000231944
HOVERGENiHBG049426
InParanoidiQ9R0C0
KOiK20188
OMAiARLNDMM
OrthoDBiEOG091G0TMT
PhylomeDBiQ9R0C0
TreeFamiTF325188

Family and domain databases

InterProiView protein in InterPro
IPR017242 BLOC-1_pallidin
IPR028119 Snapin/Pallidin/Snn1
PfamiView protein in Pfam
PF14712 Snapin_Pallidin, 1 hit
PIRSFiPIRSF037609 BLOC-1_complex_pallidin, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
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)DescriptionActionsGraphical viewLength
Natural varianti14T → M in strain: C57BL/6J-pa mutants. 1 Publication1
Natural varianti32T → M in strain: BALB/c, CBA and C57BL/6J-pa mutants. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00929576 – 80QNQVV → TKLCY in isoform 2. 1 Publication5
Alternative sequenceiVSP_00929681 – 172Missing in isoform 2. 1 PublicationAdd BLAST92

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202009, 2 interactors
ComplexPortaliCPX-1913 BLOC-1 complex
CORUMiQ9R0C0
IntActiQ9R0C0, 2 interactors
MINTiQ9R0C0
STRINGi10090.ENSMUSP00000005954

PTM databases

PhosphoSitePlusiQ9R0C0

Proteomic databases

EPDiQ9R0C0
PaxDbiQ9R0C0
PeptideAtlasiQ9R0C0
PRIDEiQ9R0C0

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi26258
MGIiMGI:1927580 Bloc1s6

Phylogenomic databases

eggNOGiENOG410IX0Y Eukaryota
ENOG4112BUE LUCA
GeneTreeiENSGT00510000047812
HOGENOMiHOG000231944
HOVERGENiHBG049426
InParanoidiQ9R0C0
KOiK20188
OMAiARLNDMM
OrthoDBiEOG091G0TMT
PhylomeDBiQ9R0C0
TreeFamiTF325188

Enzyme and pathway databases

ReactomeiR-MMU-432722 Golgi Associated Vesicle Biogenesis

Miscellaneous databases

ChiTaRSiGnas mouse
PROiPR:Q9R0C0
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000005804 Expressed in 277 organ(s), highest expression level in vestibular organ
CleanExiMM_PLDN
GenevisibleiQ9R0C0 MM

Family and domain databases

InterProiView protein in InterPro
IPR017242 BLOC-1_pallidin
IPR028119 Snapin/Pallidin/Snn1
PfamiView protein in Pfam
PF14712 Snapin_Pallidin, 1 hit
PIRSFiPIRSF037609 BLOC-1_complex_pallidin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBL1S6_MOUSE
AccessioniPrimary (citable) accession number: Q9R0C0
Secondary accession number(s): A2ATW6, Q3TUT4, Q91VG4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 2000
Last modified: September 12, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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