HPS3

Protein identityUniProt · HPA

UniProt accession

Q969F9

Gene

HPS3

Ensembl

ENSG00000163755

Chromosome

3

Canonical length

1004 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Golgi apparatus,Plasma membrane

OverviewNCBI Gene

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

Canonical amino-acid sequenceUniProt

1004 residues, UniProt reviewed canonical sequence.

>Q969F9|HPS3
     1  MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE LCQPRCAFST
    61  LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE NSRVCIRMIG HNVEGPFSKA
   121  FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV GCTNKLVLFS LKYQIINEEF SLLDFERSLI
   181  IHIDNITPVE VSFCVGYVAV MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS
   241  NEISQLESDD FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD
   301  ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH VGYLYMVVKS
   361  VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA AAAREEDPYM DTTLKACPPV
   421  SMDVCALRIQ LFIGLKAICH FKNHIILLTK AEPEAIPERR QSPKRLLSRK DTSVKIKIPP
   481  VAEAGWNLYI VNTISPVQLY KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE
   541  PGEKAELLEA FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ
   601  KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS MKNINPLTAM
   661  SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH SEMKLVCGFI LEPRLLIQQR
   721  KGQIVPTELA LHLKETQPGL LVASVLGLQK NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD
   781  FWEAQLVACL PDVVLQELFF KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW
   841  VHVVISSDSL ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR
   901  LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG GEKYQLYLSS
   961  LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK KPLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HPS3 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)

0.28

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HPS3.

Disease | AllUniProt

Conditions HPS3 is implicated in, by any mechanism.

• Hermansky-Pudlak syndrome 3 (HPS3) MIM:614072

Disease | GeneticClinVar

281 pathogenic / likely-pathogenic of 1,458 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hermansky-Pudlak syndrome 3
• Hermansky-Pudlak syndrome
• HPS3-related disorder
• Hermansky-Pudlak syndrome 2
• Hepatocellular carcinoma

Disease | ImmuneIEDB

Conditions an epitope on HPS3 was assayed in.

• berylliosis T cell

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)

1.02

gnomAD pLI

0

gnomAD missense Z

0.16

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• melanosome assembly
• pigmentation
• platelet dense granule organization

Cellular components

• BLOC-2 complex
• cytoplasm
• cytosol
• early endosome

Protein domainsUniProt · Pfam · InterPro

• Hermansky-Pudlak syndrome 3 protein
• BLOC-2 complex member HPS3, N-terminal domain
• BLOC-2 complex member HPS3, C-terminal domain
• Hermansky-Pudlak syndrome 3 protein, N-terminal
• Hermansky-Pudlak syndrome 3 protein, C-terminal region

KeywordsUniProt

• Albinism
• Cytoplasm
• Hermansky-Pudlak syndrome

InteractionsUniProt · HPA

Protein binding partners of HPS3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HPS5
• HPS6