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Gene Review

AP3B1  -  adaptor-related protein complex 3, beta 1...

Homo sapiens

Synonyms: ADTB3, ADTB3A, AP-3 complex subunit beta-1, Adaptor protein complex AP-3 subunit beta-1, Adaptor-related protein complex 3 subunit beta-1, ...
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Disease relevance of AP3B1


Psychiatry related information on AP3B1

  • The elevated speeds for LPS are interpreted as a contributing factor to speech disfluency, whereas the reduced speeds and increased durations in HPS are attributed to adaptive behavior intended to facilitate fluent speech [6].

High impact information on AP3B1

  • These findings show that BLOC-1 is important in producing the HPS phenotype in humans, indicate that dysbindin has a role in the biogenesis of lysosome-related organelles and identify unexpected interactions between components of DPC and BLOC-1 [4].
  • ADTB3A encodes a coat protein involved in vesicle formation, implicating HPS as a disorder of membrane trafficking [7].
  • Here we characterize an HPS2 mutation and demonstrate that AP-3 deficiency leads to a loss of cytotoxic T lymphocyte (CTL)-mediated cytotoxicity [8].
  • The highest rates of HPS were seen in patients with colorectal cancer with liver metastases (8,005 +/- 1,975 pmol/h per 10(5) viable cells) vs. colorectal cancer patients without liver metastases (3,060 +/- 575 pmol/h per 10(5) viable cells, P less than 0.03) [9].
  • Patients with malignant disease without weight loss had a threefold higher rate of total HPS (4,980 +/- 814 pmol/h per 10(5) viable cells) than patients with benign disease without weight loss (1,278 +/- 318 pmol/h per 10(5) viable cells, P less than 0.001) [9].

Chemical compound and disease context of AP3B1

  • Other than BS, HPS is constantly associated with chronic hypercalciuria and nephrocalcinosis as well as both renal and systemic PGE2 overproduction [10].
  • Therefore, we have studied the response of three human tumour cell lines (HL-60 promyelocytic leukaemia, MCF-7 breast cancer and HepG2 hepatoma), grown in culture medium supplemented with either human pooled (HPS) or fetal bovine serum (FBS), to desferrioxamine [11].
  • CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented [12].

Biological context of AP3B1

  • Using genetic linkage analysis and targeted gene sequencing, we defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex [13].
  • Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia [14].
  • The predicted amino acid sequence of beta3A-adaptin reveals that the protein is closely related to the neuron-specific protein beta-NAP (61% overall identity) and more distantly related to the beta1- and beta2-adaptin subunits of the clathrin-associated adaptor complexes AP-1 and AP-2, respectively [15].
  • Interventional radiology (pulmonary angiography, coil embolotherapy, and TIPS) in patients with HPS seems to provide both diagnostic data and therapeutic results of clinical importance [16].
  • For genotypes 2, 3 and 4, values obtained from the TaqMan HPS were in general 0.5 log lower than those from the bDNA [17].

Anatomical context of AP3B1

  • The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes [18].
  • To investigate the effect of remote and proximate cancer on hepatic protein metabolism, we determined rates of total protein synthesis by hepatocytes (HPS) isolated from 31 patients undergoing liver wedge biopsy: 7 patients with benign disease, 14 with gastric cancer, and 10 with colorectal cancer (5 of whom had liver metastases) [9].
  • These results can be explained by earlier excitation by the atrial impulse (of AV node and/or HPS) during AV sequential pacing [19].
  • We have obtained high-level expression of the cDNA for HPS in two mammalian cell lines [20].
  • One family of genes, including LYST and HPS/ep, shows the relationship between melanosomes and lysosomes [21].

Associations of AP3B1 with chemical compounds

  • We previously found that the causative mutation is an insertion of an extra adenine residue within a tract of nine A's in exon 21 of the 27 exon canine AP3B1 gene [14].
  • Diphenylhydantoin either completely abolished or significantly shortened the retrograde gap zones in the HPS [22].
  • Solution-phase equilibrium binding studies revealed that rHPSdesHya/Hyn binds C4b-binding protein (C4BP) in a manner indistinguishable from recombinant HPS and plasma-derived HPS, exhibiting a Kd in the presence of 2 mM CaCl2 of approximately 0.7 nM and a Kd in the presence of 4 mM EDTA approximately 10-fold higher [23].
  • When the lysine residue in guinea pig Kir1.3 (gpKir1.3) isolated from a genomic library was changed to an asparagine (reverse HPS mutation), mutant channels yielded macroscopic currents with amplitudes increased 6-fold [24].
  • Neither human factor X nor human steroid-binding protein had any measurable ability to compete with plasma HPS for C4BP binding [25].

Physical interactions of AP3B1


Other interactions of AP3B1


Analytical, diagnostic and therapeutic context of AP3B1


  1. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Huizing, M., Gahl, W.A. Curr. Mol. Med. (2002) [Pubmed]
  2. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Enders, A., Zieger, B., Schwarz, K., Yoshimi, A., Speckmann, C., Knoepfle, E.M., Kontny, U., Müller, C., Nurden, A., Rohr, J., Henschen, M., Pannicke, U., Niemeyer, C., Nurden, P., Ehl, S. Blood (2006) [Pubmed]
  3. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J., Bernardini, I. N. Engl. J. Med. (1998) [Pubmed]
  4. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Li, W., Zhang, Q., Oiso, N., Novak, E.K., Gautam, R., O'Brien, E.P., Tinsley, C.L., Blake, D.J., Spritz, R.A., Copeland, N.G., Jenkins, N.A., Amato, D., Roe, B.A., Starcevic, M., Dell'Angelica, E.C., Elliott, R.W., Mishra, V., Kingsmore, S.F., Paylor, R.E., Swank, R.T. Nat. Genet. (2003) [Pubmed]
  5. Diagnostic usefulness of bronchoalveolar lavage in Hermansky-Pudlak syndrome: a case with double lung cancers. Takahashi, K., Ishida, T., Ogura, G., Ishii, T., Oshima, K., Sato, S., Muroi, M., Kanazawa, K., Saito, J., Otsuka, Y., Watanabe, K., Handa, M., Munakata, M. Intern. Med. (2004) [Pubmed]
  6. Orofacial movements associated with fluent speech in persons who stutter. McClean, M.D., Tasko, S.M., Runyan, C.M. J. Speech Lang. Hear. Res. (2004) [Pubmed]
  7. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001) [Pubmed]
  8. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Clark, R.H., Stinchcombe, J.C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E.G., Griffiths, G.M. Nat. Immunol. (2003) [Pubmed]
  9. Protein synthesis in hepatocytes isolated from patients with gastrointestinal malignancy. Starnes, H.F., Warren, R.S., Brennan, M.F. J. Clin. Invest. (1987) [Pubmed]
  10. Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome. Schröter, J., Timmermans, G., Seyberth, H.W., Greven, J., Bachmann, S. Kidney Int. (1993) [Pubmed]
  11. The in vitro response of human tumour cells to desferrioxamine is growth medium dependent. Voest, E.E., Rooth, H., Neijt, J.P., van Asbeck, B.S., Marx, J.J. Cell Prolif. (1993) [Pubmed]
  12. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Konrad, M., Leonhardt, A., Hensen, P., Seyberth, H.W., Köckerling, A. Pediatrics (1999) [Pubmed]
  13. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Jung, J., Bohn, G., Allroth, A., Boztug, K., Brandes, G., Sandrock, I., Schäffer, A.A., Rathinam, C., Köllner, I., Beger, C., Schilke, R., Welte, K., Grimbacher, B., Klein, C. Blood (2006) [Pubmed]
  14. Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. Benson, K.F., Person, R.E., Li, F.Q., Williams, K., Horwitz, M. Nucleic Acids Res. (2004) [Pubmed]
  15. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. Dell'Angelica, E.C., Ooi, C.E., Bonifacino, J.S. J. Biol. Chem. (1997) [Pubmed]
  16. Hepatopulmonary syndrome: what are we learning from interventional radiology, liver transplantation, and other disorders? Krowka, M.J. Gastroenterology (1995) [Pubmed]
  17. Clinical performance of the new rRoche COBAS TaqMan HCV Test and High Pure System for extraction, detection and quantitation of HCV RNA in plasma and serum. Gelderblom, H.C., Menting, S., Beld, M.G. Antivir. Ther. (Lond.) (2006) [Pubmed]
  18. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Feng, L., Novak, E.K., Hartnell, L.M., Bonifacino, J.S., Collinson, L.M., Swank, R.T. Blood (2002) [Pubmed]
  19. Atrioventricular sequential pacing: differential effect on retrograde conduction related to level of impulse collision. Mahmud, R., Lehmann, M., Denker, S., Gilbert, C.J., Akhtar, M. Circulation (1983) [Pubmed]
  20. Gamma-carboxylated isoforms of recombinant human protein S with different biologic properties. Grinnell, B.W., Walls, J.D., Marks, C., Glasebrook, A.L., Berg, D.T., Yan, S.B., Bang, N.U. Blood (1990) [Pubmed]
  21. Homologous pigmentation mutations in human, mouse and other model organisms. Jackson, I.J. Hum. Mol. Genet. (1997) [Pubmed]
  22. Modification and abolition of re-entry within the His-Purkinje system in man by diphenylhydantoin. Dhatt, M.S., Akhtar, M., Reddy, P., Gomes, J.A., Lau, S.H., Caracta, A.R., Damato, A.N. Circulation (1977) [Pubmed]
  23. beta-Hydroxyaspartic acid and beta-hydroxyasparagine residues in recombinant human protein S are not required for anticoagulant cofactor activity or for binding to C4b-binding protein. Nelson, R.M., VanDusen, W.J., Friedman, P.A., Long, G.L. J. Biol. Chem. (1991) [Pubmed]
  24. A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. Derst, C., Wischmeyer, E., Preisig-Müller, R., Spauschus, A., Konrad, M., Hensen, P., Jeck, N., Seyberth, H.W., Daut, J., Karschin, A. J. Biol. Chem. (1998) [Pubmed]
  25. Binding of protein S to C4b-binding protein. Mutagenesis of protein S. Nelson, R.M., Long, G.L. J. Biol. Chem. (1992) [Pubmed]
  26. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing, M., Scher, C.D., Strovel, E., Fitzpatrick, D.L., Hartnell, L.M., Anikster, Y., Gahl, W.A. Pediatr. Res. (2002) [Pubmed]
  27. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing, M., Anikster, Y., White, J.G., Gahl, W.A. Mol. Genet. Metab. (2001) [Pubmed]
  28. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermos, C.R., Huizing, M., Kaiser-Kupfer, M.I., Gahl, W.A. Hum. Mutat. (2002) [Pubmed]
  29. Regulation of growth by a nerve growth factor-like protein which modulates paracrine interactions between a neoplastic epithelial cell line and stromal cells of the human prostate. Djakiew, D., Delsite, R., Pflug, B., Wrathall, J., Lynch, J.H., Onoda, M. Cancer Res. (1991) [Pubmed]
  30. Transforming growth factor beta signaling is disabled early in human endometrial carcinogenesis concomitant with loss of growth inhibition. Parekh, T.V., Gama, P., Wen, X., Demopoulos, R., Munger, J.S., Carcangiu, M.L., Reiss, M., Gold, L.I. Cancer Res. (2002) [Pubmed]
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