AP3B1

Protein identityUniProt · HPA

UniProt accession

O00203

Gene

AP3B1

Ensembl

ENSG00000132842

Chromosome

5

Canonical length

1094 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear membrane,Vesicles,Cytosol

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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

1094 residues, UniProt reviewed canonical sequence.

>O00203|AP3B1
     1  MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM LESNKDSAKL
    61  DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV YLVRYAEEQQ DLALLSISTF
   121  QRALKDPNQL IRASALRVLS SIRVPIIVPI MMLAIKEASA DLSPYVRKNA AHAIQKLYSL
   181  DPEQKEMLIE VIEKLLKDKS TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG
   241  QVVIIHMLTR YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL
   301  IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ YIVLQNIATM
   361  SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA NISTLLREFQ TYVKSQDKQF
   421  AAATIQTIGR CATNILEVTD TCLNGLVCLL SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII
   481  KHMAKLLDSI TVPVARASIL WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG
   541  AKLYLTNSKQ TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNVKSGAL SKYAKKIFLA
   601  QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN VEVIELAKEW
   661  TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES GEQGESGEEG DSNEDSSEDS
   721  SSEQDSESGR ESGLENKRTA KRNSKAKGKS DSEDGEKENE KSKTSDSSND ESSSIEDSSS
   781  DSESESEPES ESESRRVTKE KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP
   841  SLMADLEGLH LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV
   901  SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG IDFCDSTQTA
   961  SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL TGMNETSAVI IAAPQNFTPS
  1021  VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV HSGSLMLVTV ELKEGSTAQL IINTEKTVIG
  1081  SVLLRELKPV LSQG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP3B1 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)

0.37

Highest tissue expression

40 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP3B1.

Disease | AllUniProt

Conditions AP3B1 is implicated in, by any mechanism.

• Hermansky-Pudlak syndrome 2 (HPS2) MIM:608233

Disease | GeneticClinVar

74 pathogenic / likely-pathogenic of 992 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hermansky-Pudlak syndrome 2
• Hermansky-Pudlak syndrome
• Autoinflammatory syndrome
• AP3B1-related disorder

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)

0.34

gnomAD pLI

0.62

gnomAD missense Z

0.89

DepMap mean gene effect

-0.23

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

• anterograde axonal transport
• anterograde synaptic vesicle transport
• antigen processing and presentation, exogenous lipid antigen via MHC class Ib
• blood coagulation
• cell morphogenesis
• clathrin-coated vesicle cargo loading, AP-3-mediated
• establishment of protein localization to mitochondrial membrane involved in mitochondrial fission
• granulocyte differentiation
• hematopoietic progenitor cell differentiation
• homeostasis of number of cells
• inflammatory response
• intracellular protein transport
• intracellular zinc ion homeostasis
• lung morphogenesis
• lysosome organization
• melanosome assembly
• melanosome organization
• mRNA transcription by RNA polymerase II
• platelet dense granule organization
• positive regulation of NK T cell differentiation
• positive regulation of transcription by RNA polymerase II
• protein localization to cell surface
• protein targeting to lysosome
• respiratory system process
• single fertilization
• skin epidermis development
• spermatogenesis
• toll-like receptor signaling pathway
• vesicle-mediated transport

Molecular functions

• GTP-dependent protein binding
• protein phosphatase binding

Cellular components

• AP-3 adaptor complex
• axon cytoplasm
• clathrin adaptor complex
• clathrin-coated vesicle membrane
• early endosome
• Golgi apparatus
• lysosomal membrane
• membrane
• microvesicle
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Clathrin/coatomer adaptor, adaptin-like, N-terminal
• Armadillo-like helical
• Beta-adaptin appendage, C-terminal subdomain
• Armadillo-type fold
• AP complex subunit beta
• AP-3 complex subunit beta
• AP-3 complex subunit beta, C-terminal domain
• AP-3 complex subunit beta-1/2, C-terminal domain
• Adaptin N terminal region
• Clathrin-adaptor complex-3 beta-1 subunit C-terminal
• AP-3 complex subunit beta-1, C-terminal domain
• AP-3 complex subunit beta 1, serine-rich domain
• Serine-rich region of AP3B1, clathrin-adaptor complex

KeywordsUniProt

• Albinism
• Cytoplasmic vesicle
• Golgi apparatus
• Hermansky-Pudlak syndrome
• Membrane
• Phosphoprotein
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of AP3B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KIF3A
• AP3M1
• AP3S1
• CAMKV