Seroatlas · Human Serome Atlas

HPS6

BLOC-2 complex member HPS6

Also known as: BLOC2S3, FLJ22501, HPS6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q86YV9
Gene
HPS6
Ensembl
ENSG00000166189
Chromosome
10
Canonical length
775 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol

OverviewNCBI Gene

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

775 residues, UniProt reviewed canonical sequence.

>Q86YV9|HPS6
     1  MKRSGTLRLL SDLSAFGGAA RLRELVAGDS AVRVRGSPDG RHLLLLRPPG AVAPQLLVAS
    61  RGPGAELERA WPAGQPSPLD AFFLPWPARP ALVLVWESGL AEVWGAGVGP GWRPLQSTEL
   121  CPGGGARVVA VAALRGRLVW CEERQARAEG PSGSPAAAFS HCVCVRTLEP SGEASTSLGR
   181  THVLLHHCPA FGLLASCRQL FLVPTATTWP GVAHVLLIWS PGKGKVMVAA PRLGLSYSKS
   241  LNPGRGDTWD FRTLLRGLPG LLSPREPLAV HTWAPTPQGL LLLDFGGTVS LLQSHGGTRA
   301  VGTLQEAPVG PWGSAALGTF QGTLACVLGS TLELLDMGSG QLLERKVLST DRVHLLEPPA
   361  PGMEDEEELE TRGNLRLLSA LGLFCVGWEA PQGVELPSAK DLVFEEACGY YQRRSLRGAQ
   421  LTPEELRHSS TFRAPQALAS ILQGHLPPSA LLTMLRTELR DYRGLEQLKA QLVAGDDEEA
   481  GWTELAEQEV ARLLRTELIG DQLAQLNTVF QALPTAAWGA TLRALQLQLD GNGKLRSQAP
   541  PDVWKKVLGG ITAGKEPPNG ILPPFELLCQ CLCQLEPRWL PPFVELAQQQ GGPGWGAGGP
   601  GLPLYRRALA VLGEEGTRPE ALELELLLSS GRPKAVLQAV GQLVQKEQWD RALDAGLALG
   661  PSSPLLRSEI FKLLLAEFAQ HRRLDAHLPL LCRLCPPELA PAELLLLLRT YLPDEVGPPT
   721  PFPEPGAEPP LTVGLLKALL EQTGAQGWLS GPVLSPYEDI LWDPSTPPPT PPRDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPS6 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
9.7 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 9.7 nTPM
  • pancreas: 8.7 nTPM
  • spleen: 8.6 nTPM
  • skin: 8.5 nTPM
  • endometrium: 8.2 nTPM
  • stomach: 8 nTPM

Single-cell type

  • tuft cells: 23 nCPM
  • cytotrophoblasts: 15 nCPM
  • extravillous trophoblasts: 13 nCPM
  • hofbauer cells: 13 nCPM
  • esophageal suprabasal cells: 11 nCPM
  • syncytiotrophoblasts: 11 nCPM

Immune cell

  • NK-cell: 3.9 nTPM
  • gdT-cell: 3.1 nTPM
  • plasmacytoid DC: 3 nTPM
  • intermediate monocyte: 2.9 nTPM
  • MAIT T-cell: 2.7 nTPM
  • memory CD4 T-cell: 2.6 nTPM

Brain region

  • medulla oblongata: 14 nTPM
  • thalamus: 13 nTPM
  • cerebral cortex: 13 nTPM
  • hippocampal formation: 12 nTPM
  • hypothalamus: 11 nTPM
  • pons: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPS6.

Disease | AllUniProt

Conditions HPS6 is implicated in, by any mechanism.

Disease | GeneticClinVar

99 pathogenic / likely-pathogenic of 614 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)
0.71
gnomAD pLI
0
gnomAD missense Z
-0.03
DepMap mean gene effect
0.07
DepMap dependency class
none

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

  • BLOC-2 complex, Hps6 subunit
  • BLOC-2 complex member HPS6, C-terminal domain
  • BLOC-2 complex member HPS6, N-terminal domain
  • Hermansky-Pudlak syndrome 6 protein N-terminal domain
  • Hermansky-Pudlak syndrome 6 protein C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HPS6 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 HPS6 as an antibody target. Whether an autoantibody or antibody against HPS6 could matter depends on whether native HPS6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HPS6 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 HPS6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HPS6. 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).

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