Seroatlas · Human Serome Atlas

HPS1

BLOC-3 complex member HPS1

Also known as: BLOC3S1, HPS, HPS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q92902
Gene
HPS1
Ensembl
ENSG00000107521
Chromosome
10
Canonical length
700 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

700 residues, UniProt reviewed canonical sequence.

>Q92902|HPS1
     1  MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT
    61  MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF
   121  GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC
   181  ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL
   241  VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY
   301  FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES
   361  YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR
   421  SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA
   481  IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG
   541  LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL
   601  LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE
   661  AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPS1 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)
0.31
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 25 nTPM
  • small intestine: 24 nTPM
  • adrenal gland: 22 nTPM
  • pancreas: 22 nTPM
  • salivary gland: 21 nTPM
  • liver: 20 nTPM

Single-cell type

  • microglia: 45 nCPM
  • astrocytes: 28 nCPM
  • late spermatids: 26 nCPM
  • oligodendrocytes: 24 nCPM
  • choroid plexus epithelial cells: 23 nCPM
  • proximal tubule cells: 21 nCPM

Immune cell

  • eosinophil: 27 nTPM
  • non-classical monocyte: 25 nTPM
  • myeloid DC: 22 nTPM
  • basophil: 20 nTPM
  • intermediate monocyte: 20 nTPM
  • NK-cell: 18 nTPM

Brain region

  • thalamus: 5.5 nTPM
  • pons: 5 nTPM
  • midbrain: 4.7 nTPM
  • medulla oblongata: 4.5 nTPM
  • hypothalamus: 4.3 nTPM
  • cerebral cortex: 4.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPS1.

Disease | AllUniProt

Conditions HPS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

194 pathogenic / likely-pathogenic of 1,306 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)
0.69
gnomAD pLI
0
gnomAD missense Z
0.12
DepMap mean gene effect
-0.09
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HPS1 as an antibody target. Whether an autoantibody or antibody against HPS1 could matter depends on whether native HPS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HPS1 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 HPS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HPS1. 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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