AP3B1

Protein-coding gene in the species Homo sapiens
AP3B1
Identifiers
AliasesAP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
External IDsOMIM: 603401 MGI: 1333879 HomoloGene: 68125 GeneCards: AP3B1
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for AP3B1
Genomic location for AP3B1
Band5q14.1Start78,000,522 bp[1]
End78,294,762 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for AP3B1
Genomic location for AP3B1
Band13 C3|13 49.22 cMStart94,495,468 bp[2]
End94,702,825 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • islet of Langerhans

  • anterior pituitary

  • monocyte

  • rectum

  • stromal cell of endometrium

  • smooth muscle tissue

  • minor salivary glands

  • left lobe of thyroid gland

  • internal globus pallidus
Top expressed in
  • seminiferous tubule

  • secondary oocyte

  • entorhinal cortex

  • pyloric antrum

  • spermatid

  • epithelium of stomach

  • large intestine

  • colon

  • left colon

  • spermatocyte
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • protein phosphatase binding
  • GTP-dependent protein binding
  • protein binding
Cellular component
  • clathrin-coated vesicle membrane
  • lysosomal membrane
  • membrane coat
  • cytoplasmic vesicle
  • AP-3 adaptor complex
  • Golgi apparatus
  • membrane
  • clathrin adaptor complex
  • axon cytoplasm
  • synapse
  • postsynapse
Biological process
  • protein targeting to lysosome
  • protein transport
  • intracellular protein transport
  • antigen processing and presentation, exogenous lipid antigen via MHC class Ib
  • vesicle-mediated transport
  • melanosome organization
  • positive regulation of NK T cell differentiation
  • antigen processing and presentation
  • blood coagulation
  • anterograde axonal transport
  • anterograde synaptic vesicle transport
  • transport
  • synaptic vesicle budding from endosome
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8546

11774

Ensembl

ENSG00000132842

ENSMUSG00000021686

UniProt

O00203

Q9Z1T1

RefSeq (mRNA)

NM_001271769
NM_003664

NM_009680

RefSeq (protein)

NP_001258698
NP_003655

NP_033810

Location (UCSC)Chr 5: 78 – 78.29 MbChr 13: 94.5 – 94.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.[5][6][7]

Function

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.[7]

Interactions

AP3B1 has been shown to interact with AP3S2.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132842 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021686 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Dell'Angelica EC, Ooi CE, Bonifacino JS (Jun 1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3". The Journal of Biological Chemistry. 272 (24): 15078–84. doi:10.1074/jbc.272.24.15078. PMID 9182526.
  6. ^ Simpson F, Peden AA, Christopoulou L, Robinson MS (May 1997). "Characterization of the adaptor-related protein complex, AP-3". The Journal of Cell Biology. 137 (4): 835–45. doi:10.1083/jcb.137.4.835. PMC 2139840. PMID 9151686.
  7. ^ a b "Entrez Gene: AP3B1 adaptor-related protein complex 3, beta 1 subunit".

External links

  • GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome
  • Human AP3B1 genome location and AP3B1 gene details page in the UCSC Genome Browser.

Further reading

  • Huizing M, Gahl WA (Aug 2002). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Current Molecular Medicine. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID 12125811.
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • MacNeill SA, Nurse P (Sep 1993). "Genetic analysis of human p34CDC2 function in fission yeast". Molecular & General Genetics. 240 (3): 315–22. doi:10.1007/BF00280381. PMID 8413179. S2CID 20544877.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Dell'Angelica EC, Klumperman J, Stoorvogel W, Bonifacino JS (Apr 1998). "Association of the AP-3 adaptor complex with clathrin". Science. 280 (5362): 431–4. Bibcode:1998Sci...280..431D. doi:10.1126/science.280.5362.431. PMID 9545220.
  • Feng L, Seymour AB, Jiang S, To A, Peden AA, Novak EK, Zhen L, Rusiniak ME, Eicher EM, Robinson MS, Gorin MB, Swank RT (Feb 1999). "The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness" (PDF). Human Molecular Genetics. 8 (2): 323–30. doi:10.1093/hmg/8.2.323. PMID 9931340.
  • Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Jan 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Molecular Cell. 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID 10024875.
  • Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA (Feb 2002). "Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2". Pediatric Research. 51 (2): 150–8. doi:10.1203/00006450-200202000-00006. PMID 11809908.
  • Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT (Mar 2002). "The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes". Blood. 99 (5): 1651–8. doi:10.1182/blood.V99.5.1651.h8001651_1651_1658. PMID 11861280. S2CID 10081541.
  • Kim YM, Barak LS, Caron MG, Benovic JL (May 2002). "Regulation of arrestin-3 phosphorylation by casein kinase II". The Journal of Biological Chemistry. 277 (19): 16837–46. doi:10.1074/jbc.M201379200. PMID 11877451.
  • Dubois T, Howell S, Zemlickova E, Aitken A (Apr 2002). "Identification of casein kinase Ialpha interacting protein partners". FEBS Letters. 517 (1–3): 167–71. doi:10.1016/S0014-5793(02)02614-5. PMID 12062430. S2CID 84792445.
  • Salazar G, Love R, Werner E, Doucette MM, Cheng S, Levey A, Faundez V (Feb 2004). "The zinc transporter ZnT3 interacts with AP-3 and it is preferentially targeted to a distinct synaptic vesicle subpopulation". Molecular Biology of the Cell. 15 (2): 575–87. doi:10.1091/mbc.E03-06-0401. PMC 329249. PMID 14657250.
  • Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells JW, Banham AH, Mufti GJ (Oct 2005). "Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia". Biochemical and Biophysical Research Communications. 335 (4): 1293–304. doi:10.1016/j.bbrc.2005.08.024. PMID 16112646.
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C (Jul 2006). "Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2". Blood. 108 (1): 362–9. doi:10.1182/blood-2005-11-4377. PMC 1895843. PMID 16537806.
  • v
  • t
  • e
Synaptic vesicle
SNARE
Q-SNARE
R-SNARE
Synaptotagmin
Other
COPICOPIIRME/Clathrin
CaveolaeOther/ungrouped
Vesicle formation
Adaptor protein complex 1:
Adaptor protein complex 2:
Adaptor protein complex 3:
Adaptor protein complex 4:
BLOC-1:
BLOC-2:
BLOC-3:
Coats:
Small GTPase
Other
See also vesicular transport protein disorders


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