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Protein-coding gene in the species Homo sapiens
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene. This gene encodes a protein that may play a role in organelle biogenesis
AP3B1
Protein family
protein complex 2: AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 Adaptor protein complex 3: AP3B1 AP3B2 AP3D1 AP3M1 AP3M2 AP3S1 AP3S2 Adaptor protein complex 4: AP4B1 AP4E1
SNARE_protein
2-6:100,000 Hermansky–Pudlak syndrome HPS1, HPS3, HPS4, HPS5, HPS6, HPS7, AP3B1 1:500,000 Hereditary neuropathy with liability to pressure palsies (HNPP)
List_of_genetic_disorders
Medical condition
biogenesis of lysosome related organelles (LROs). These include HPS1, HPS2 (AP3B1), HPS3, HPS4, HPS5, HPS6, HPS7 (DTNBP1), HPS8 (BLOC1S3), HPS9 (BLOC1S6)
Hermansky–Pudlak_syndrome
AP1M2 AP1S1 AP1S2 AP1S3 complex 2 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 complex 3 AP3B1 AP3B2 AP3D1 AP3M1 AP3M2 AP3S1 AP3S2 complex 4 AP4B1 AP4E1 AP4M1 AP4S1 complex
List_of_adaptins
HGNC:563; P63010 809 AP2M1 HGNC:564; Q96CW1 810 AP2S1 HGNC:565; P53680 811 AP3B1 HGNC:566; O00203 812 AP3B2 HGNC:567; Q13367 813 AP3D1 HGNC:568; O14617 814
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Gene which maintains basic cellular functions
NM_001128 AP1M1 NM_032493 AP2A1 NM_014203 AP2A2 NM_012305 AP2M1 AP2S1 NM_004069 AP3B1 NM_003664 AP3D1 NM_003938 AP3M1 NM_012095 AP3S1 NM_001284 AP3S2 NM_005829
Housekeeping_gene
Hermansky–Pudlak syndrome 1; 203300; HPS1 Hermansky–Pudlak syndrome 2; 608233; AP3B1 Hermansky–Pudlak syndrome 3; 203300; HPS3 Hermansky–Pudlak syndrome 4; 203300;
List_of_OMIM_disorder_codes
Protein-coding gene in humans
interacts with the following proteins: β-catenin Adaptor protein-3 (AP3; AP3B1, AP3B2, AP3D1, AP3M1, AP3S1, AP3S2) Sorting nexin 3 (SNX3) C-Kit receptor
PTPRU
Protein-coding gene in humans
humans is encoded by the AP3S2 gene. AP3S2 has been shown to interact with AP3B1. GRCh38: Ensembl release 89: ENSG00000157823 – Ensembl, May 2017 GRCm38:
AP3S2
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AP3B1
AP3B1
AP3B1
AP3B1
AP3B1
AP3B1
AP3B1
AP3B1
AP3B1
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