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FLASH GENE

Symbol

AP1S3

contributors: mct - updated : 12-05-2014

HGNC name	adaptor-related protein complex 1, sigma 3 subunit
HGNC id	18971

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PUPSO Pustular Psoriasis
Location	2q36.1      Physical location : 224.620.047 - 224.702.319
Synonym name	sigma 1C adaptin
	AP-1 complex subunit sigma1C

DNA

TYPE	functioning gene
STRUCTURE	82.27 kb     5 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_001039569 5 - 4005 NP_001034658 - 154 - 2014 24791904

EXPRESSION

Type

widely

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 Reproductive female system breast

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	primitive neuroectoderm

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a single FYVE domain
	multiple WD40 repeats

HOMOLOGY

Homologene

FAMILY

adaptor complexes small subunit family

CATEGORY

transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION

playing a role in protein sorting in the late-Golgi / trans-Golgi network (TGN) and/or endosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PUPSO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   disrupted the endosomal translocation of the innate pattern-recognition receptor TLR3 and resulted in a marked inhibition of downstream signaling

Susceptibility

to osteoporosis

Variant & Polymorphism SNP	rs6436440 and rs2291296, were located in the genes AP1S3, associated with variation of bone mineral density and osteoporosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS