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FLASH GENE

Symbol

AP1S1

contributors: mct/npt - updated : 01-07-2009

HGNC name	adaptor-related protein complex 1, sigma 1 subunit
HGNC id	559

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MEDNIK mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia
Location	7q22.1      Physical location : 100.797.685 - 100.804.556
Synonym name	clathrin-associated/assembly/adaptor protein, small 1 (19kD)
	AP1S1 adaptor-related protein complex 1, sigma 1 subunit
	golgi adaptor HA1/AP1 adaptin sigma-1A subunit
	HA1 19 kDa subunit
Synonym symbol(s)	AP19, CLAPS1, SIGMA1A, FLJ92436, WUGSC:H_DJ0747G18.2

DNA

TYPE	functioning gene
STRUCTURE	6.87 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S479 - ASNS - TAC1 - NPTX2 - D8S651 - AP1S1 - SERPINE1 - D7S518 - D7S658 - qter
Authors	Gene Map (98)

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 5 - 1297 isoform 1 18.6 158 - Takatsu, Folsch (1999) variant 2 - - 958 isoform 2 15.7 133 - Takatsu

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 Nervous nerve       highly Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies

ortholog to S cerevisiae,Yap17p

Homologene

FAMILY

adaptor complexes small subunits family

CATEGORY

adaptor , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
text	form the AP-1 assembly protein complex located at the Golgi vesicle

basic FUNCTION	heterotetrameric adaptor complex AP-1 with AP1G, AP1M1/M2, AP1S1/2 transporting ligand receptor complexes from transGolgi network to lysosome
	playing a a critical role in development of the skin and spinal cord (Montpetit 2008)
	regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells (Montpetit 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport , cellular trafficking transport

PATHWAY

metabolism

signaling

a component	part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles
	heterotetrameric adaptor complex AP-1 with AP1G, AP1M1/M2, AP1S1/2

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MEDNIK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in striatum and caudate from HD patients Mazarei 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS