AP3B1
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Also known as ADTB3AHPS2
Summary
AP3B1 (adaptor related protein complex 3 subunit beta 1, HGNC:566) is a protein-coding gene on chromosome 5q14.1, encoding AP-3 complex subunit beta-1 (O00203). Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes.
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.
Source: NCBI Gene 8546 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Hermansky-Pudlak syndrome 2 (Definitive, ClinGen)
- GWAS associations: 18
- Clinical variants (ClinVar): 1,000 total — 45 pathogenic, 28 likely-pathogenic
- Phenotypes (HPO): 47
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_003664
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:566 |
| Approved symbol | AP3B1 |
| Name | adaptor related protein complex 3 subunit beta 1 |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ADTB3A, HPS2 |
| Ensembl gene | ENSG00000132842 |
| Ensembl biotype | protein_coding |
| OMIM | 603401 |
| Entrez | 8546 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 21 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron, 4 protein_coding_CDS_not_defined
ENST00000255194, ENST00000517561, ENST00000517940, ENST00000519295, ENST00000519888, ENST00000520122, ENST00000522901, ENST00000523204, ENST00000695447, ENST00000695448, ENST00000695449, ENST00000695450, ENST00000695451, ENST00000695452, ENST00000695453, ENST00000695454, ENST00000695455, ENST00000695458, ENST00000695488, ENST00000695505, ENST00000695506, ENST00000695507, ENST00000695510, ENST00000695511, ENST00000695512, ENST00000695513, ENST00000695514, ENST00000695515, ENST00000695540, ENST00000909857, ENST00000909858, ENST00000913629, ENST00000913630, ENST00000913631, ENST00000959993
RefSeq mRNA: 3 — MANE Select: NM_003664
NM_001271769, NM_001410752, NM_003664
CCDS: CCDS4041, CCDS64186, CCDS93737
Canonical transcript exons
ENST00000255194 — 27 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000971647 | 78020692 | 78020789 |
| ENSE00000971648 | 78015410 | 78015548 |
| ENSE00001004976 | 78141143 | 78141319 |
| ENSE00001004980 | 78116126 | 78116234 |
| ENSE00001162621 | 78156258 | 78156367 |
| ENSE00001162627 | 78162819 | 78162951 |
| ENSE00002117807 | 78294452 | 78294698 |
| ENSE00003491648 | 78034361 | 78034445 |
| ENSE00003500093 | 78128030 | 78128160 |
| ENSE00003524684 | 78113752 | 78113923 |
| ENSE00003551949 | 78129121 | 78129307 |
| ENSE00003605513 | 78089393 | 78089499 |
| ENSE00003614414 | 78100953 | 78101025 |
| ENSE00003623425 | 78039043 | 78039274 |
| ENSE00003672382 | 78110207 | 78110354 |
| ENSE00003964102 | 78267520 | 78267595 |
| ENSE00003964103 | 78228144 | 78228239 |
| ENSE00003964104 | 78216055 | 78216237 |
| ENSE00003964105 | 78175784 | 78175838 |
| ENSE00003964106 | 78175626 | 78175697 |
| ENSE00003964108 | 78240862 | 78240936 |
| ENSE00003964109 | 78181507 | 78181662 |
| ENSE00003964111 | 78225542 | 78225608 |
| ENSE00003964112 | 78165610 | 78165672 |
| ENSE00003964113 | 78227372 | 78227532 |
| ENSE00003964114 | 78177339 | 78177436 |
| ENSE00003964224 | 78002326 | 78003055 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 97.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.6475 / max 482.0866, expressed in 1818 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62203 | 36.1381 | 1817 |
| 62201 | 2.2225 | 1164 |
| 62202 | 0.7221 | 441 |
| 62196 | 0.4776 | 73 |
| 62197 | 0.0873 | 13 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 97.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.27 | gold quality |
| tendon | UBERON:0000043 | 94.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.03 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.82 | gold quality |
| pituitary gland | UBERON:0000007 | 93.81 | gold quality |
| monocyte | CL:0000576 | 93.78 | gold quality |
| mononuclear cell | CL:0000842 | 93.51 | gold quality |
| leukocyte | CL:0000738 | 93.32 | gold quality |
| rectum | UBERON:0001052 | 92.49 | gold quality |
| olfactory bulb | UBERON:0002264 | 92.25 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.65 | gold quality |
| type B pancreatic cell | CL:0000169 | 91.59 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.44 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.24 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.21 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.20 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.17 | gold quality |
| pancreas | UBERON:0001264 | 90.98 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.81 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.80 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.69 | gold quality |
| body of pancreas | UBERON:0001150 | 90.68 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.52 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.42 | gold quality |
| popliteal artery | UBERON:0002250 | 90.23 | gold quality |
| tibial artery | UBERON:0007610 | 90.23 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 90.19 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, CEBPB, CREBZF, NFKB, TFAP2A, TP53, ZKSCAN7, ZNF91
miRNA regulators (miRDB)
70 targeting AP3B1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
Literature-anchored findings (GeneRIF, showing 16)
- Two nonsense mutations in ADTB3A, C1578T (R–>X) and G2028T (E–>X), result in lack of ADTB3A mRNA and beta3A protein production and a severe, G-CSF-responsive neutropenia in addition to oculocutaneous albinism and platelet storage pool deficiency. (PMID:11809908)
- Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review) (PMID:12125811)
- We defined a homozygous genomic deletion in AP3B1, the gene encoding the beta chain of the adaptor protein-3 (AP-3) complex. The mutation leads to in-frame skipping of exon 15 and thus perturbs proper assembly of the heterotetrameric AP-3 complex. (PMID:16537806)
- A novel homozygous mutation in AP3B1 was detected in a 2-year-old patient with oculocutaneous albinism and immunodeficiency with Hermansky-Pudlak syndrome type II and eventual acute fatal hemophagocytic lymphohistiocytosis. (PMID:16551969)
- Mutations in AP3B1 is not associated with familial hemophagocytic lymphohistiocytosis (PMID:18000860)
- AP-1 and AP-3 are involved in the formation of distinct types of clathrin-coated vesicles, each of which is characterized by the incorporation of specific cargo membrane proteins (PMID:18410487)
- Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts. (PMID:19246570)
- The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1. (PMID:19679886)
- diphosphoinositol pentakisphosphate-mediated pyrophosphorylation of AP3B1 modulates the interaction with Kif3A and, as a consequence, affects the release of HIV-1 virus-like particles. (PMID:19934039)
- Data indicate that RUN and FYVE domain protein Rabip4’(RUFY1) interacts specifically and directly with adaptor protein complex AP-3. (PMID:23144738)
- Using a co-affinity purification strategy, authors have identified the beta subunit of the AP-3 adapter protein complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus. (PMID:25210190)
- Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. (PMID:25980904)
- point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively (PMID:28585318)
- data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8. (PMID:30630984)
- Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms. (PMID:33867526)
- HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. (PMID:34637926)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ap3b1a | ENSDARG00000100082 |
| danio_rerio | ENSDARG00000110056 | |
| mus_musculus | Ap3b1 | ENSMUSG00000021686 |
| rattus_norvegicus | Ap3b1 | ENSRNOG00000010624 |
| drosophila_melanogaster | rb | FBGN0003210 |
| caenorhabditis_elegans | apb-3 | WBGENE00000163 |
Paralogs (4): AP2B1 (ENSG00000006125), AP1B1 (ENSG00000100280), AP3B2 (ENSG00000103723), AP4B1 (ENSG00000134262)
Protein
Protein identifiers
AP-3 complex subunit beta-1 — O00203 (reviewed: O00203)
Alternative names: Adaptor protein complex AP-3 subunit beta-1, Adaptor-related protein complex 3 subunit beta-1, Beta-3A-adaptin, Clathrin assembly protein complex 3 beta-1 large chain
All UniProt accessions (21): A0A0S2Z4Z4, A0A0S2Z5J4, A0A8Q3SHP3, A0A8Q3SHR2, A0A8Q3SHS3, A0A8Q3SHS6, A0A8Q3SHU2, A0A8Q3SHV5, A0A8Q3SHW6, A0A8Q3SHX0, A0A8Q3SI03, A0A8Q3SIM7, A0A8Q3SIS1, O00203, A0A8Q3WKF8, A0A8Q3WKI5, A0A8Q3WKJ9, A0A8Q3WKK0, A0A8Q3WKN2, A0A8Q3WL34, H0YBD0
UniProt curated annotations — full annotation on UniProt →
Function. Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
Subunit / interactions. Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). AP-3 associates with the BLOC-1 complex. Interacts with KIF3A; interaction is direct; interaction is impaired by pyrophosphorylation of AP3B1.
Subcellular location. Cytoplasmic vesicle. Clathrin-coated vesicle membrane. Golgi apparatus.
Tissue specificity. Ubiquitously expressed.
Post-translational modifications. Phosphorylated on serine residues. Pyrophosphorylation by 5-diphosphoinositol pentakisphosphate (5-IP7) impairs interaction with KIF3A. Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue.
Disease relevance. Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233] A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the adaptor complexes large subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00203-1 | 1 | yes |
| O00203-3 | 2 |
RefSeq proteins (3): NP_001258698, NP_001397681, NP_003655* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002553 | Clathrin/coatomer_adapt-like_N | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR015151 | B-adaptin_app_sub_C | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR026739 | AP_beta | Family |
| IPR026740 | AP3_beta | Family |
| IPR029390 | AP3B_C | Domain |
| IPR029394 | AP3B1_Ser | Domain |
| IPR056314 | AP3B1/2_C | Domain |
Pfam: PF01602, PF14796, PF14797, PF24080
UniProt features (24 total): compositionally biased region 9, modified residue 4, region of interest 3, sequence variant 3, sequence conflict 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9C5C | ELECTRON MICROSCOPY | 3.6 |
| 9C5A | ELECTRON MICROSCOPY | 4.2 |
| 9C59 | ELECTRON MICROSCOPY | 4.3 |
| 9C5B | ELECTRON MICROSCOPY | 4.5 |
| 9C58 | ELECTRON MICROSCOPY | 4.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00203-F1 | 75.85 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 276, 609, 750, 752
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-432722 | Golgi Associated Vesicle Biogenesis |
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions |
| R-HSA-1643685 | Disease |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers |
| R-HSA-6802957 | Oncogenic MAPK signaling |
MSigDB gene sets: 492 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_SINGLE_FERTILIZATION, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_VACUOLE_ORGANIZATION, GOBP_VESICLE_LOCALIZATION
GO Biological Process (36): cell morphogenesis (GO:0000902), toll-like receptor signaling pathway (GO:0002224), hematopoietic progenitor cell differentiation (GO:0002244), respiratory system process (GO:0003016), protein targeting to lysosome (GO:0006622), intracellular zinc ion homeostasis (GO:0006882), intracellular protein transport (GO:0006886), inflammatory response (GO:0006954), lysosome organization (GO:0007040), spermatogenesis (GO:0007283), single fertilization (GO:0007338), blood coagulation (GO:0007596), anterograde axonal transport (GO:0008089), vesicle-mediated transport (GO:0016192), granulocyte differentiation (GO:0030851), melanosome organization (GO:0032438), protein localization to cell surface (GO:0034394), clathrin-coated vesicle cargo loading, AP-3-mediated (GO:0035654), mRNA transcription by RNA polymerase II (GO:0042789), positive regulation of transcription by RNA polymerase II (GO:0045944), antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007), anterograde synaptic vesicle transport (GO:0048490), homeostasis of number of cells (GO:0048872), positive regulation of NK T cell differentiation (GO:0051138), platelet dense granule organization (GO:0060155), lung morphogenesis (GO:0060425), obsolete establishment of protein localization to mitochondrial membrane involved in mitochondrial fission (GO:0090152), skin epidermis development (GO:0098773), melanosome assembly (GO:1903232), protein targeting (GO:0006605), gene expression (GO:0010467), protein transport (GO:0015031), antigen processing and presentation (GO:0019882), lung development (GO:0030324), pigmentation (GO:0043473), membrane organization (GO:0061024)
GO Molecular Function (4): protein phosphatase binding (GO:0019903), GTP-dependent protein binding (GO:0030742), protein binding (GO:0005515), clathrin binding (GO:0030276)
GO Cellular Component (13): mitochondrion (GO:0005739), lysosomal membrane (GO:0005765), early endosome (GO:0005769), Golgi apparatus (GO:0005794), membrane (GO:0016020), AP-3 adaptor complex (GO:0030123), clathrin adaptor complex (GO:0030131), clathrin-coated vesicle membrane (GO:0030665), axon cytoplasm (GO:1904115), microvesicle (GO:1990742), endomembrane system (GO:0012505), membrane coat (GO:0030117), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| trans-Golgi Network Vesicle Budding | 1 |
| Oncogenic MAPK signaling | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
| Disease | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular protein localization | 2 |
| transcription by RNA polymerase II | 2 |
| protein binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| AP-type membrane coat adaptor complex | 2 |
| anatomical structure morphogenesis | 1 |
| pattern recognition receptor signaling pathway | 1 |
| hemopoiesis | 1 |
| cell differentiation | 1 |
| system process | 1 |
| respiratory gaseous exchange by respiratory system | 1 |
| protein targeting to vacuole | 1 |
| lysosomal transport | 1 |
| protein localization to lysosome | 1 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| defense response | 1 |
| lytic vacuole organization | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| fertilization | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| axonal transport | 1 |
| axon cytoplasm | 1 |
| transport | 1 |
| cellular process | 1 |
| myeloid leukocyte differentiation | 1 |
| pigment granule organization | 1 |
| clathrin-coated vesicle cargo loading | 1 |
| mRNA transcription | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| phosphatase binding | 1 |
| binding | 1 |
Protein interactions and networks
STRING
2054 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AP3B1 | HPS4 | Q9NQG7 | 934 |
| AP3B1 | AP3D1 | O14617 | 929 |
| AP3B1 | HPS3 | Q969F9 | 925 |
| AP3B1 | AP3S1 | Q92572 | 895 |
| AP3B1 | AP3M1 | Q9Y2T2 | 889 |
| AP3B1 | HPS6 | Q86YV9 | 841 |
| AP3B1 | BLOC1S3 | Q6QNY0 | 836 |
| AP3B1 | HPS5 | Q9UPZ3 | 825 |
| AP3B1 | LYST | Q99698 | 797 |
| AP3B1 | BHLHE22 | Q8NFJ8 | 728 |
| AP3B1 | BLOC1S6 | Q9UL45 | 724 |
| AP3B1 | UNC13D | Q70J99 | 720 |
| AP3B1 | STX11 | O75558 | 720 |
| AP3B1 | STXBP2 | Q15833 | 720 |
| AP3B1 | DTNBP1 | Q96EV8 | 719 |
IntAct
203 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| AP3M1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| DNALI1 | AP3B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG6 | AP3B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OPTN | AP3B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP3B1 | ALS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP3B1 | SNCA | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP3B1 | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (270): AP3B1 (Co-localization), AP3B1 (Affinity Capture-Western), LRSAM1 (Affinity Capture-Western), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), AP3B1 (Co-fractionation), AP3B1 (Co-fractionation)
ESM2 similar proteins: A0A3Q1LSX9, A1A5G0, A1A5K2, A2A5R2, A2APV2, A2VE70, D3ZYR1, O00203, O04376, O35643, O60308, O75122, P52303, Q05397, Q08AM6, Q08DS7, Q0JRZ9, Q10567, Q13367, Q28FH2, Q32PG1, Q3UQN2, Q4U0G1, Q561M0, Q5R807, Q5ZIW5, Q6NUP7, Q6NXC0, Q6NYW6, Q6ZPF4, Q7TSU1, Q7YRF1, Q7Z460, Q80TV8, Q8BRT1, Q8C0Y0, Q8IVF7, Q8LF36, Q8N7B6, Q8RW96
Diamond homologs: O00203, O13939, O81742, Q13367, Q32PG1, Q54X82, Q556J8, Q7YRF1, Q9JME5, Q9M2T1, Q9SUS3, Q9Z1T1, O35643, O43005, O43079, P27351, P36000, P52303, P62944, P63009, P63010, Q08DS7, Q10567, Q9DBG3, Q9LDK9, Q9WV76, Q9Y6B7
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AP3B1 | “form complex” | “AP-3 complex” | binding |
| AP3B1 | “up-regulates activity” | KIF3A | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 163 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neurexins and neuroligins | 8 | 14.9× | 4e-05 |
| Signaling by NOTCH | 6 | 9.9× | 7e-03 |
| ESR-mediated signaling | 7 | 8.5× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrated stress response signaling | 5 | 26.0× | 2e-03 |
| positive regulation of miRNA transcription | 6 | 12.9× | 4e-03 |
| negative regulation of canonical NF-kappaB signal transduction | 7 | 8.9× | 4e-03 |
| positive regulation of gene expression | 14 | 4.0× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1000 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 45 |
| Likely pathogenic | 28 |
| Uncertain significance | 455 |
| Likely benign | 344 |
| Benign | 52 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1071422 | NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) | Pathogenic |
| 1072382 | NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) | Pathogenic |
| 1370969 | NM_003664.5(AP3B1):c.2738del (p.Lys913fs) | Pathogenic |
| 1416408 | NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) | Pathogenic |
| 1451475 | NM_003664.5(AP3B1):c.2757del (p.Ile919fs) | Pathogenic |
| 1455598 | NM_003664.5(AP3B1):c.2801del (p.Asn934fs) | Pathogenic |
| 1456202 | NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) | Pathogenic |
| 1878314 | NM_003664.5(AP3B1):c.1789dup (p.Ile597fs) | Pathogenic |
| 2019152 | NM_003664.5(AP3B1):c.778del (p.Trp260fs) | Pathogenic |
| 2030913 | NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter) | Pathogenic |
| 224760 | NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys) | Pathogenic |
| 224761 | NM_003664.5(AP3B1):c.1754del (p.Val585fs) | Pathogenic |
| 224762 | NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter) | Pathogenic |
| 224763 | NM_003664.5(AP3B1):c.177del (p.Lys59fs) | Pathogenic |
| 224764 | NM_003664.4(AP3B1):c.1839_1842delTAGA | Pathogenic |
| 2503438 | NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter) | Pathogenic |
| 2676731 | NM_003664.5(AP3B1):c.1363+1G>A | Pathogenic |
| 2698780 | NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs) | Pathogenic |
| 2705668 | NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter) | Pathogenic |
| 2717774 | NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs) | Pathogenic |
| 2739632 | NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter) | Pathogenic |
| 2748816 | NM_003664.5(AP3B1):c.1408del (p.Gln470fs) | Pathogenic |
| 2749771 | NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs) | Pathogenic |
| 2812558 | NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter) | Pathogenic |
| 2837529 | NM_003664.5(AP3B1):c.1286del (p.Gly429fs) | Pathogenic |
| 3239621 | GRCh37/hg19 5q14.1(chr5:77396777-77396849)x1 | Pathogenic |
| 3246334 | NC_000005.9:g.(?77590256)(77590403_?)del | Pathogenic |
| 3653778 | NM_003664.5(AP3B1):c.624dup (p.Met209fs) | Pathogenic |
| 3897901 | NM_003664.5(AP3B1):c.2514_2515del (p.Pro840fs) | Pathogenic |
| 3910635 | NM_003664.5(AP3B1):c.2249+1del | Pathogenic |
SpliceAI
6053 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:78003057:T:A | acceptor_loss | 1.0000 |
| 5:78015546:CTC:C | acceptor_gain | 1.0000 |
| 5:78015549:C:CC | acceptor_gain | 1.0000 |
| 5:78017414:A:AC | donor_gain | 1.0000 |
| 5:78017415:G:C | donor_gain | 1.0000 |
| 5:78019512:A:T | acceptor_gain | 1.0000 |
| 5:78020788:TA:T | acceptor_gain | 1.0000 |
| 5:78020790:C:CC | acceptor_gain | 1.0000 |
| 5:78034359:A:AC | donor_gain | 1.0000 |
| 5:78034360:C:CC | donor_gain | 1.0000 |
| 5:78034360:CCA:C | donor_gain | 1.0000 |
| 5:78034446:C:CC | acceptor_gain | 1.0000 |
| 5:78039270:CTGAC:C | acceptor_gain | 1.0000 |
| 5:78039286:G:T | acceptor_gain | 1.0000 |
| 5:78089391:A:AC | donor_gain | 1.0000 |
| 5:78089392:C:CC | donor_gain | 1.0000 |
| 5:78089392:CA:C | donor_gain | 1.0000 |
| 5:78089497:TAA:T | acceptor_gain | 1.0000 |
| 5:78089500:C:CC | acceptor_gain | 1.0000 |
| 5:78100943:CAATA:C | donor_gain | 1.0000 |
| 5:78100945:ATACT:A | donor_loss | 1.0000 |
| 5:78100946:TACTT:T | donor_loss | 1.0000 |
| 5:78100947:A:AC | donor_gain | 1.0000 |
| 5:78100947:ACT:A | donor_loss | 1.0000 |
| 5:78100948:C:CC | donor_gain | 1.0000 |
| 5:78100948:C:G | donor_loss | 1.0000 |
| 5:78100949:TT:T | donor_loss | 1.0000 |
| 5:78100950:T:TG | donor_loss | 1.0000 |
| 5:78100951:A:AC | donor_gain | 1.0000 |
| 5:78100951:A:C | donor_loss | 1.0000 |
AlphaMissense
7228 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:78129240:C:G | R573P | 1.000 |
| 5:78141177:A:G | L539P | 1.000 |
| 5:78175818:A:G | L354P | 1.000 |
| 5:78216123:C:G | G240R | 1.000 |
| 5:78216123:C:T | G240R | 1.000 |
| 5:78216124:C:A | W239C | 1.000 |
| 5:78216124:C:G | W239C | 1.000 |
| 5:78216126:A:G | W239R | 1.000 |
| 5:78216126:A:T | W239R | 1.000 |
| 5:78216223:A:C | S206R | 1.000 |
| 5:78216223:A:T | S206R | 1.000 |
| 5:78216225:T:G | S206R | 1.000 |
| 5:78216227:C:T | G205D | 1.000 |
| 5:78225558:A:G | L196P | 1.000 |
| 5:78225561:A:G | L195P | 1.000 |
| 5:78227391:C:G | A173P | 1.000 |
| 5:78227396:G:T | A171D | 1.000 |
| 5:78227400:C:G | A170P | 1.000 |
| 5:78227404:C:A | K168N | 1.000 |
| 5:78227404:C:G | K168N | 1.000 |
| 5:78227407:C:A | R167S | 1.000 |
| 5:78227407:C:G | R167S | 1.000 |
| 5:78227408:C:A | R167M | 1.000 |
| 5:78227408:C:G | R167T | 1.000 |
| 5:78227409:T:A | R167W | 1.000 |
| 5:78227411:A:T | V166D | 1.000 |
| 5:78227468:A:T | I147N | 1.000 |
| 5:78227492:A:G | L139P | 1.000 |
| 5:78227504:G:T | A135D | 1.000 |
| 5:78227505:C:G | A135P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005033 (5:78038786 C>A,T), RS1000033267 (5:78135386 A>C), RS1000048293 (5:78274453 G>C), RS1000052093 (5:78035096 G>A,T), RS1000055365 (5:78281052 T>C,G), RS1000079189 (5:78274800 C>T), RS1000105623 (5:78087219 G>C,T), RS1000108289 (5:78185794 C>T), RS1000129255 (5:78257629 C>A), RS1000137027 (5:78117040 A>C,G), RS1000137410 (5:78032020 G>T), RS1000141220 (5:78050030 C>G,T), RS1000153190 (5:78230568 T>G), RS1000158428 (5:78071374 C>T), RS1000177799 (5:78215355 T>G)
Disease associations
OMIM: gene MIM:603401 | disease phenotypes: MIM:608233, MIM:203300
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Hermansky-Pudlak syndrome 2 | Definitive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Hermansky-Pudlak syndrome 2 | Definitive | AR |
Mondo (7): Hermansky-Pudlak syndrome 2 (MONDO:0011997), autoinflammatory syndrome (MONDO:0019751), prostate cancer (MONDO:0008315), Hermansky-Pudlak syndrome (MONDO:0019312), combined immunodeficiency (MONDO:0015131), thrombocytopenia (MONDO:0002049), intellectual disability (MONDO:0001071)
Orphanet (7): Hermansky-Pudlak syndrome due to AP-3 deficiency (Orphanet:183678), Hermansky-Pudlak syndrome (Orphanet:79430), Autoinflammatory syndrome (Orphanet:93665), Familial prostate cancer (Orphanet:1331), Combined T and B cell immunodeficiency (Orphanet:101972), Hermansky-Pudlak syndrome due to AP3B1 deficiency (Orphanet:664500), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
47 total (30 of 47 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000403 | Recurrent otitis media |
| HP:0000431 | Wide nasal bridge |
| HP:0000486 | Strabismus |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000613 | Photophobia |
| HP:0000639 | Nystagmus |
| HP:0000666 | Horizontal nystagmus |
| HP:0000670 | Carious teeth |
| HP:0000704 | Periodontitis |
| HP:0001022 | Albinism |
| HP:0001107 | Ocular albinism |
| HP:0001256 | Mild intellectual disability |
| HP:0001270 | Motor delay |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001875 | Decreased total neutrophil count |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002206 | Pulmonary fibrosis |
| HP:0002240 | Hepatomegaly |
| HP:0002286 | Fair hair |
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001208_9 | Insulin resistance/response | 6.000000e-07 |
| GCST003301_5 | Triglycerides | 7.000000e-08 |
| GCST006481_8 | Lung function (FEV1) | 6.000000e-09 |
| GCST006483_19 | Lung function (FVC) | 2.000000e-11 |
| GCST006483_52 | Lung function (FVC) | 3.000000e-11 |
| GCST006483_53 | Lung function (FVC) | 3.000000e-11 |
| GCST007429_52 | Lung function (FVC) | 3.000000e-14 |
| GCST007432_138 | FEV1 | 7.000000e-09 |
| GCST008114_34 | Type 2 diabetes | 8.000000e-06 |
| GCST009391_1660 | Metabolite levels | 2.000000e-07 |
| GCST010483_4 | Cardiovascular death, myocardial infarction or stroke in response to clopidogrel treatment | 8.000000e-06 |
| GCST010988_94 | Adult body size | 2.000000e-09 |
| GCST010989_252 | Body size at age 10 | 4.000000e-11 |
| GCST012227_1350 | Hip circumference adjusted for BMI | 8.000000e-15 |
| GCST90000025_44 | Appendicular lean mass | 1.000000e-18 |
| GCST90002404_210 | Red cell distribution width | 2.000000e-09 |
| GCST90011900_104 | Serum alkaline phosphatase levels | 3.000000e-08 |
| GCST90013406_139 | Liver enzyme levels (alkaline phosphatase) | 3.000000e-13 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0004312 | vital capacity |
| EFO:0010470 | carnosine measurement |
| EFO:0006919 | cardiovascular event measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0009188 | Red cell distribution width |
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D022861 | Hermanski-Pudlak Syndrome | C11.270.040.545.400; C15.378.100.100.515; C15.378.100.685.400; C15.378.140.735.400; C15.378.463.735.400; C16.320.099.515; C16.320.290.040.100.400; C16.320.565.100.102.100.400; C16.320.850.080.100.400; C17.800.621.440.102.100.400; C17.800.827.080.100.400; C18.452.648.100.102.100.400 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| D013921 | Thrombocytopenia | C15.378.140.855; C15.378.243.937 |
| C537709 | Hermansky Pudlak syndrome 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724792 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
6 potent at pChembl≥5 of 6 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.31 | Kd | 49.02 | nM | CHEMBL5653589 |
| 7.31 | ED50 | 49.02 | nM | CHEMBL5653589 |
| 7.30 | Kd | 50 | nM | MOLIBRESIB |
| 7.10 | IC50 | 80 | nM | MOLIBRESIB |
| 6.25 | Kd | 557.6 | nM | CHEMBL3752910 |
| 6.25 | ED50 | 557.6 | nM | CHEMBL3752910 |
PubChem BioAssay actives
4 with measured affinity, of 11 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147868: Binding affinity to human AP3B1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0490 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179179: Binding affinity against AP3B1 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0500 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147868: Binding affinity to human AP3B1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.5576 | uM |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression | 3 |
| sodium arsenite | increases expression, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| terbufos | decreases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | decreases expression, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Fulvestrant | decreases reaction, decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, decreases reaction | 1 |
| Cannabidiol | increases expression | 1 |
| Clozapine | increases expression | 1 |
| Fonofos | decreases methylation | 1 |
| Estradiol | decreases expression, decreases reaction | 1 |
| Haloperidol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Parathion | decreases methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Vanadates | increases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650910 | Binding | Binding affinity to human AP3B1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
3 cell lines: 2 induced pluripotent stem cell, 1 finite cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0R47 | GM17890 | Finite cell line | Male |
| CVCL_A0JY | SANi009-A | Induced pluripotent stem cell | Female |
| CVCL_DQ89 | CHOPHPS2 | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: Hermansky-Pudlak syndrome 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autoinflammatory syndrome, combined immunodeficiency, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 2, thrombocytopenia