Seroatlas · Human Serome Atlas

BLOC1S6

Biogenesis of lysosome-related organelles complex 1 subunit 6

Also known as: BL1S6_HUMAN, HPS9, PA, PLDN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UL45
Gene
BLOC1S6
Ensembl
ENSG00000104164
Chromosome
15
Canonical length
172 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

172 residues, UniProt reviewed canonical sequence.

>Q9UL45|BLOC1S6
     1  MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE QLAEGLLSHY
    61  LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD INALFAEAKH YHAKLVNIRK
   121  EMLMLHEKTS KLKKRALKLQ QKRQKEELER EQQREKEFER EKQLTARPAK RM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLOC1S6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.56
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 55 nTPM
  • thyroid gland: 42 nTPM
  • lymph node: 39 nTPM
  • prostate: 34 nTPM
  • ovary: 34 nTPM
  • tonsil: 33 nTPM

Single-cell type

  • other brain neurons: 49 nCPM
  • microglia: 47 nCPM
  • oligodendrocytes: 44 nCPM
  • brain excitatory neurons: 41 nCPM
  • brain inhibitory neurons: 39 nCPM
  • oligodendrocyte progenitor cells: 38 nCPM

Immune cell

  • basophil: 19 nTPM
  • myeloid DC: 17 nTPM
  • memory B-cell: 13 nTPM
  • naive B-cell: 13 nTPM
  • intermediate monocyte: 13 nTPM
  • classical monocyte: 13 nTPM

Brain region

  • hypothalamus: 53 nTPM
  • midbrain: 45 nTPM
  • pons: 43 nTPM
  • cerebral cortex: 41 nTPM
  • basal ganglia: 40 nTPM
  • white matter: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BLOC1S6.

Disease | AllUniProt

Conditions BLOC1S6 is implicated in, by any mechanism.

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 215 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.69
gnomAD pLI
0
gnomAD missense Z
0.86
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BLOC1S6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BLOC1S6 as an antibody target. Whether an autoantibody or antibody against BLOC1S6 could matter depends on whether native BLOC1S6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BLOC1S6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BLOC1S6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BLOC1S6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...