AP3D1

Last update 08 May 2025

Basic Info

Synonyms

adaptor related protein complex 3 subunit delta 1, Adaptor-related protein complex 3 subunit delta-1, ADTD

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Introduction

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). 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 (By similarity).

100 Clinical Results associated with AP3D1

100 Translational Medicine associated with AP3D1

0 Patents (Medical) associated with AP3D1

Literatures (Medical) associated with AP3D1

01 Mar 2025·Journal of Indian Association of Pediatric Surgeons

Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance

Article

Author: Jain, Vishesh ; Dhua, Anjan Kumar ; Kumar, Sourabh ; Kaushik, Himani ; Goel, Prabudh ; Sharma, Mahima ; Sharma, Jyoti ; Agarwala, Sandeep ; Yadav, Devendra Kumar ; Pandey, Himani ; Lal, Devi

ABSTRACTIntroduction:The genetic diversity of the population in India, shaped by its unique history of migrations and varied ethnic landscape, suggests the possibility of genetic profiles distinct from the western populations.Objective:The objective is to investigate the genetic basis of spina bifida in the Indian cohort through whole-exome sequencing and pathway enrichment.Methods:The variants of uncertain significance (VUS) of spina bifida were identified through whole-exome sequencing in the study cohort (n = 3). The pathogenic, likely pathogenic, and VUS were analyzed for protein–protein interactions and functional associations with genes implicated in spina bifida using tools such as STRING and KEGG pathways, which were validated through a literature review. The study was focused on the Wnt/planar cell polarity signaling pathway, which is crucial for neural tube closure.Results:The study-cohort was collectively represented through 40 common VUS, including eight deleterious SNPs related to genes AP3D1, NLRP9, PCDHGA11, PRSS3, MTSS2, ENDOV, C9, and NSD3. These genes were functionally linked to neural development, immune response, and cellular processes critical for neural tube closure. Notably, interactions were observed between four genes (NLGN2, PKD1, PRSS3, and PLK1) and CTNNB1 (Wnt signaling pathway) crucial for embryonic neural tube formation.Conclusions:This study has identified novel genetic variants and pathways potentially contributing to the etiopathogenesis of spina bifida in the Indian population. Future research with larger cohorts and functional studies is necessary to validate these findings and explore their potential for clinical applications in spina bifida.

01 Dec 2024·Acta Epileptologica

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Article

Author: Jiang, Yuwu ; Yan, Huifang ; Song, Conglei ; Lin, Li ; Gu, Weiyue ; Wang, Yong ; Liu, Wenwei ; Wang, Jingmin ; Ji, Taoyun ; Du, Xilong ; Wen, Sijia ; Gao, Kai

AbstractBackgroundDevelopmental and epileptic encephalopathy (DEE) is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes. Nevertheless, numerous patients remain without identification of a genetic cause.MethodsWe present four unrelated Chinese patients with SPOUT1 compound heterozygous variants, all of whom were diagnosed with DEE. We also investigated functions of SPOUT1 using the spout1 knockout zebrafish model.ResultsThe four unrelated DEE patients with SPOUT1 compound heterozygous variants were all males. Their onset age of seizure ranged from 3 months to 6 months (median age 5 months). All patients had epileptic spasms, and were diagnosed with infantile epileptic spasms syndrome (IESS). Three patients had microcephaly during infancy. Brain MRI in three patients showed white matter hypomyelination and bilaterally widened frontotemporal subarachnoid space. At the last follow-up, two patients exhibited drug-resistant epilepsy, one achieved seizure freedom following vigabatrin treatment, and one died at the age of 4 years and 5 months from probable sudden unexpected death in epilepsy. Seven different SPOUT1 variants were identified in the four patients, including six missense variants and one deletion variant. AlphaFold2 prediction indicated that all variants alternated the number or the length of bonds between animo acids in protein SPOUT1. Neurophysiological results from spout1 knockout zebrafish revealed the presence of epileptiform signals in 9 out of 63 spout1 knockout zebrafishes (P = 0.009). Transcriptome sequencing revealed 21 differentially expressed genes between spout1 knockout and control groups, including 13 up-regulated and 8 down-regulated genes. Two axonal transport-related genes, kif3a and ap3d1, were most prominently involved in enriched Gene Ontology (GO) terms.ConclusionsThis study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern. IESS is the most common epilepsy syndrome. Downregulation of axonal transport-related genes, KIF3A and AP3D1, may play a crucial role in the pathogenesis of DEE.

01 Aug 2024·Immunologic Research

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Article

Author: Yıldıran, Alisan ; Genel, Ferah ; Celmeli, Fatih ; Unluhizarci, Kursad ; Aykut, Ayca ; Aksu, Guzide ; Kilic, Sara Sebnem ; Durmaz, Asude ; Cogurlu, M Tuba ; Cicek, Dilek ; Karaca, Neslihan ; Cipe, Funda Erol ; Akcan, Mediha ; Kutukculer, Necil ; Kiykim, Ayca ; Ardeniz, Omur ; Gulez, Nesrin

AbstractHuman Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes. We designed a targeted next-generation sequencing (TNGS) workflow using the Ion AmpliSeq™ Primary Immune Deficiency Research Panel to sequence 264 genes associated with IEIs on the Ion S5™ Sequencer. In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-generation sequencing enabled rapid and precise diagnosis of patients with PIRDs.

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AP3D1

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