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Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

BLOC1S6

Organism
Homo sapiens (Human)
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.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

  • anterograde axonal transport Source: UniProtKB
  • anterograde synaptic vesicle transport Source: UniProtKB
  • endosome to melanosome transport Source: UniProtKB
  • melanosome organization Source: UniProtKB
  • melanosome transport Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • positive regulation of pigment cell differentiation Source: UniProtKB
  • synaptic vesicle docking Source: UniProtKB

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

HGNCiHGNC:8549. BLOC1S6.

Subcellular locationi

GO - Cellular componenti

  • axon cytoplasm Source: GOC
  • BLOC-1 complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extrinsic component of membrane Source: UniProtKB
  • presynapse Source: GOC
  • transport vesicle Source: UniProtKB

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.
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.

PTM databases

iPTMnetiQ9UL45.
PhosphoSitePlusiQ9UL45.

Expressioni

Tissue specificityi

Widely expressed.2 Publications

Gene expression databases

BgeeiENSG00000104164.
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

Show more details

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi117644. 41 interactors.
IntActiQ9UL45. 44 interactors.
MINTiMINT-1434296.
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.
OMAiMLHEKTT.
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

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)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

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. 41 interactors.
IntActiQ9UL45. 44 interactors.
MINTiMINT-1434296.
STRINGi9606.ENSP00000220531.

PTM databases

iPTMnetiQ9UL45.
PhosphoSitePlusiQ9UL45.

Polymorphism and mutation databases

BioMutaiBLOC1S6.
DMDMi41017511.

Proteomic databases

EPDiQ9UL45.
PaxDbiQ9UL45.
PeptideAtlasiQ9UL45.
PRIDEiQ9UL45.

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.
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.
OMAiMLHEKTT.
PhylomeDBiQ9UL45.
TreeFamiTF325188.

Enzyme and pathway databases

ReactomeiR-HSA-432722. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikiiPLDN.
GenomeRNAii26258.
PROiPR:Q9UL45.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104164.
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: April 12, 2017
This is version 142 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. 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

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.