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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

Bloc1s6

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

GO - Biological processi

  • anterograde axonal transport Source: UniProtKB
  • anterograde synaptic vesicle transport Source: UniProtKB
  • blood coagulation Source: MGI
  • endosome to melanosome transport Source: UniProtKB
  • melanocyte differentiation Source: MGI
  • melanosome transport Source: UniProtKB
  • membrane fusion Source: MGI
  • neuron projection development Source: UniProtKB
  • pigmentation Source: MGI
  • positive regulation of natural killer cell activation Source: MGI
  • positive regulation of pigment cell differentiation Source: UniProtKB
  • secretion of lysosomal enzymes Source: MGI
  • vesicle docking involved in exocytosis Source: MGI
  • vesicle fusion Source: MGI
Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:1927580. Bloc1s6.

Subcellular locationi

  • Cytoplasm By similarity
  • Membrane By similarity; Peripheral membrane protein By similarity

  • Note: It can exist as a soluble protein as well as a peripheral membrane protein.By similarity

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • endosome Source: MGI
  • extrinsic component of membrane Source: UniProtKB
  • nucleoplasm Source: MGI
  • SNARE complex Source: Ensembl
  • 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.

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.
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.
IntActiQ9R0C0. 2 interactors.
MINTiMINT-4107741.
STRINGi10090.ENSMUSP00000005954.

Structurei

3D structure databases

ProteinModelPortaliQ9R0C0.
ModBaseiSearch...
MobiDBiSearch...

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.
OMAiMLHEKTT.
OrthoDBiEOG091G0TMT.
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. 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

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

ProteinModelPortaliQ9R0C0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202009. 2 interactors.
IntActiQ9R0C0. 2 interactors.
MINTiMINT-4107741.
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.
OMAiMLHEKTT.
OrthoDBiEOG091G0TMT.
PhylomeDBiQ9R0C0.
TreeFamiTF325188.

Enzyme and pathway databases

ReactomeiR-MMU-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

PROiQ9R0C0.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000005804.
CleanExiMM_PLDN.
GenevisibleiQ9R0C0. MM.

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.
ProtoNetiSearch...

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: November 30, 2016
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.