Seroatlas · Human Serome Atlas

HPS5

BLOC-2 complex member HPS5

Also known as: AIBP63, BLOC2S2, HPS5_HUMAN, RU2

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

Protein identityUniProt · HPA

UniProt accession
Q9UPZ3
Gene
HPS5
Ensembl
ENSG00000110756
Chromosome
11
Canonical length
1129 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1129 residues, UniProt reviewed canonical sequence.

>Q9UPZ3|HPS5
     1  MAFVPVIPES YSHVLAEFES LDPLLSALRL DSSRLKCTSI AVSRKWLALG SSGGGLHLIQ
    61  KEGWKHRLFL SHREGAISQV ACCLHDDDYV AVATSQGLVV VWELNQERRG KPEQMYVSSE
   121  HKGRRVTALC WDTAILRVFV GDHAGKVSAI KLNTSKQAKA AAAFVMFPVQ TITTVDSCVV
   181  QLDYLDGRLL ISSLTRSFLC DTEREKFWKI GNKERDGEYG ACFFPGRCSG GQQPLIYCAR
   241  PGSRMWEVNF DGEVISTHQF KKLLSLPPLP VITLRSEPQY DHTAGSSQSL SFPKLLHLSE
   301  HCVLTWTERG IYIFIPQNVQ VLLWSEVKDI QDVAVCRNEL FCLHLNGKVS HLSLISVERC
   361  VERLLRRGLW NLAARTCCLF QNSVIASRAR KTLTADKLEH LKSQLDHGTY NDLISQLEEL
   421  ILKFEPLDSA CSSRRSSISS HESFSILDSG IYRIISSRRG SQSDEDSCSL HSQTLSEDER
   481  FKEFTSQQEE DLPDQCCGSH GNEDNVSHAP VMFETDKNET FLPFGIPLPF RSPSPLVSLQ
   541  AVKESVSSFV RKTTEKIGTL HTSPDLKVRP ELRGDEQSCE EDVSSDTCPK EEDTEEEKEV
   601  TSPPPEEDRF QELKVATAEA MTKLQDPLVL FESESLRMVL QEWLSHLEKT FAMKDFSGVS
   661  DTDNSSMKLN QDVLLVNESK KGILDEDNEK EKRDSLGNEE SVDKTACECV RSPRESLDDL
   721  FQICSPCAIA SGLRNDLAEL TTLCLELNVL NSKIKSTSGH VDHTLQQYSP EILACQFLKK
   781  YFFLLNLKRA KESIKLSYSN SPSVWDTFIE GLKEMASSNP VYMEMEKGDL PTRLKLLDDE
   841  VPFDSPLLVV YATRLYEKFG ESALRSLIKF FPSILPSDII QLCHHHPAEF LAYLDSLVKS
   901  RPEDQRSSFL ESLLQPESLR LDWLLLAVSL DAPPSTSTMD DEGYPRPHSH LLSWGYSQLI
   961  LHLIKLPADF ITKEKMTDIC RSCGFWPGYL ILCLELERRR EAFTNIVYLN DMSLMEGDNG
  1021  WIPETVEEWK LLLHLIQSKS TRPAPQESLN GSLSDGPSPI NVENVALLLA KAMGPDRAWS
  1081  LLQECGLALE LSEKFTRTCD ILRIAEKRQR ALIQSMLEKC DRFLWSQQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPS5 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)
0.34
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • liver: 33 nTPM
  • salivary gland: 16 nTPM
  • testis: 14 nTPM
  • blood vessel: 13 nTPM
  • spinal cord: 10 nTPM
  • breast: 9.8 nTPM

Single-cell type

  • podocytes: 95 nCPM
  • choroid plexus epithelial cells: 50 nCPM
  • early spermatids: 40 nCPM
  • microglia: 38 nCPM
  • oligodendrocytes: 36 nCPM
  • melanocytes: 32 nCPM

Immune cell

  • basophil: 12 nTPM
  • myeloid DC: 8.3 nTPM
  • non-classical monocyte: 6 nTPM
  • intermediate monocyte: 5.4 nTPM
  • memory B-cell: 5.3 nTPM
  • naive B-cell: 4.4 nTPM

Brain region

  • white matter: 14 nTPM
  • choroid plexus: 11 nTPM
  • medulla oblongata: 11 nTPM
  • thalamus: 10 nTPM
  • basal ganglia: 10 nTPM
  • spinal cord: 9.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPS5.

Disease | AllUniProt

Conditions HPS5 is implicated in, by any mechanism.

Disease | GeneticClinVar

133 pathogenic / likely-pathogenic of 1,171 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)
0.73
gnomAD pLI
0
gnomAD missense Z
0.06
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HPS5 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 HPS5 as an antibody target. Whether an autoantibody or antibody against HPS5 could matter depends on whether native HPS5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HPS5 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 HPS5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HPS5. 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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