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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

BLOC1S6

Organism
Homo sapiens (Human)
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.2 Publications

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: UniProtKB
  • syntaxin binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-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 homolog
Pallidin
Syntaxin 13-interacting protein
Gene namesi
Name:BLOC1S6
Synonyms:PA, PLDN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000104164.10
HGNCiHGNC:8549 BLOC1S6
MIMi604310 gene
neXtProtiNX_Q9UL45

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

Hermansky-Pudlak syndrome 9 (HPS9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614171

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi26258
GeneReviewsiBLOC1S6
MalaCardsiBLOC1S6
MIMi614171 phenotype
OpenTargetsiENSG00000104164
Orphaneti280663 Hermansky-Pudlak syndrome type 9
PharmGKBiPA33398

Polymorphism and mutation databases

BioMutaiBLOC1S6
DMDMi41017511

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584581 – 172Biogenesis of lysosome-related organelles complex 1 subunit 6Add BLAST172

Post-translational modificationi

Phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UL45
PaxDbiQ9UL45
PeptideAtlasiQ9UL45
PRIDEiQ9UL45
ProteomicsDBi84945
84946 [Q9UL45-2]

PTM databases

iPTMnetiQ9UL45
PhosphoSitePlusiQ9UL45

Expressioni

Tissue specificityi

Widely expressed.2 Publications

Gene expression databases

BgeeiENSG00000104164 Expressed in 211 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_PLDN
ExpressionAtlasiQ9UL45 baseline and differential
GenevisibleiQ9UL45 HS

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117644, 63 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CPX-1911 BLOC1S1-CNO-PLDN complex
CORUMiQ9UL45
IntActiQ9UL45, 44 interactors
STRINGi9606.ENSP00000220531

Structurei

3D structure databases

ProteinModelPortaliQ9UL45
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
InParanoidiQ9UL45
KOiK20188
OMAiARLNDMM
PhylomeDBiQ9UL45
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

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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):

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BST1H3BST1_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
177Annotation score:
H3BR42H3BR42_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6 hCG_2001986
131Annotation score:
H3BNE3H3BNE3_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
113Annotation score:
H3BRA4H3BRA4_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
75Annotation score:
H3BMT8H3BMT8_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
46Annotation score:
H3BN13H3BN13_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6 hCG_2001986
86Annotation score:
H3BPR6H3BPR6_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
57Annotation score:
H3BU57H3BU57_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6 hCG_2001986
85Annotation score:
H3BN73H3BN73_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
21Annotation score:
H3BML5H3BML5_HUMAN
Biogenesis of lysosome-related orga...
BLOC1S6
43Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00929376 – 80QNQVV → TKLYC in isoform 2. 1 Publication5
Alternative sequenceiVSP_00929481 – 172Missing in isoform 2. 1 PublicationAdd BLAST92

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_012388.3 [Q9UL45-1]
UniGeneiHs.7037

Genome annotation databases

EnsembliENST00000220531; ENSP00000220531; ENSG00000104164 [Q9UL45-1]
ENST00000567523; ENSP00000456624; ENSG00000104164 [Q9UL45-2]
GeneIDi26258
KEGGihsa:26258
UCSCiuc001zvq.4 human [Q9UL45-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
CCDSiCCDS10126.1 [Q9UL45-1]
RefSeqiNP_036520.1, NM_012388.3 [Q9UL45-1]
UniGeneiHs.7037

3D structure databases

ProteinModelPortaliQ9UL45
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117644, 63 interactors
ComplexPortaliCPX-1910 BLOC-1 complex
CPX-1911 BLOC1S1-CNO-PLDN complex
CORUMiQ9UL45
IntActiQ9UL45, 44 interactors
STRINGi9606.ENSP00000220531

PTM databases

iPTMnetiQ9UL45
PhosphoSitePlusiQ9UL45

Polymorphism and mutation databases

BioMutaiBLOC1S6
DMDMi41017511

Proteomic databases

EPDiQ9UL45
PaxDbiQ9UL45
PeptideAtlasiQ9UL45
PRIDEiQ9UL45
ProteomicsDBi84945
84946 [Q9UL45-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220531; ENSP00000220531; ENSG00000104164 [Q9UL45-1]
ENST00000567523; ENSP00000456624; ENSG00000104164 [Q9UL45-2]
GeneIDi26258
KEGGihsa:26258
UCSCiuc001zvq.4 human [Q9UL45-1]

Organism-specific databases

CTDi26258
DisGeNETi26258
EuPathDBiHostDB:ENSG00000104164.10
GeneCardsiBLOC1S6
GeneReviewsiBLOC1S6
HGNCiHGNC:8549 BLOC1S6
HPAiHPA039928
MalaCardsiBLOC1S6
MIMi604310 gene
614171 phenotype
neXtProtiNX_Q9UL45
OpenTargetsiENSG00000104164
Orphaneti280663 Hermansky-Pudlak syndrome type 9
PharmGKBiPA33398
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX0Y Eukaryota
ENOG4112BUE LUCA
GeneTreeiENSGT00510000047812
HOGENOMiHOG000231944
HOVERGENiHBG049426
InParanoidiQ9UL45
KOiK20188
OMAiARLNDMM
PhylomeDBiQ9UL45
TreeFamiTF325188

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis

Miscellaneous databases

ChiTaRSiBLOC1S6 human
GeneWikiiPLDN
GenomeRNAii26258
PROiPR:Q9UL45
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104164 Expressed in 211 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_PLDN
ExpressionAtlasiQ9UL45 baseline and differential
GenevisibleiQ9UL45 HS

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_HUMAN
AccessioniPrimary (citable) accession number: Q9UL45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 2000
Last modified: September 12, 2018
This is version 152 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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