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FLASH GENE

Symbol

AP3D1

contributors: mct/npt - updated : 27-01-2017

HGNC name	adaptor-related protein complex 3, delta 1 subunit
HGNC id	568

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS10 Hermansky-Pudlak syndrome 10
Location	19p13.3      Physical location : 2.100.993 - 2.151.556
Synonym name	delta-adaptin
	AP-3 complex subunit delta
	subunit of putative vesicle coat adaptor complex AP-3
Synonym symbol(s)	ADTD, AP3D, HPS10, hBLVR

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	50.63 kb     31 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003938 30 splicing 4887 NP_003929 130.2 1153 - 1999 10559961 variant 1 31 splicing 4741 - 1112 - 1999 10559961 NM_001261826 32 splicing 5073 NP_001248755 - 1215 - 1999 10559961 variant 4 - splicing - - - - 1999 10559961

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine pancreas       highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies

homolog to murine Ap3d

Homologene

FAMILY

adaptator complexes large subunit family

CATEGORY

adaptor , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	vesicle coat protein

basic FUNCTION	involved in intracellular transport
	eye pigment biosynthesis
	faciliting the budding of vesicles from the Golgi membrane
	involved in trafficking to lysosomes
	could be involved in the regulation of progenitor cell competence and the eventual ratio of resulting differentiated cells
	plays an alternative role in HIV-1 assembly

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	vesicle transport

PATHWAY

metabolism

signaling

a component	component of the AP-3 complex being an heterotetramer
	composed of two large chains (delta and beta 3), a medium chain (mu3) and a small chain (sigma 3)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

complex associated with the Golgi region as well as more peripheral structures

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   reduced significantly viral particle release from HIV-1-infected dendritic cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Ap3d-deletion mutant (Mocha) mouse undergoes rapid photoreceptor degeneration leading to blindness soon after birth