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FLASH GENE

Symbol

AP4S1

contributors: mct/ - updated : 06-07-2011

HGNC name	adaptor-related protein complex 4, sigma 1 subunit
HGNC id	575

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine Ap4s1
	homolog to C.elegans T20B5.1

Homologene

FAMILY

adaptor complexes medium subunit family

CATEGORY

adaptor , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	associated with trans Golgi network

basic FUNCTION	involved in recognition and sorting of cargo proteins with tyrosine-based motifs
	involved in targeting proteins from the trans Golgi network to the endosomal-lysosomal system
	crucial role of AP4-mediated trafficking in brain development and functioning

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport

text	non selective vesicle and coated vesicle transport

PATHWAY

metabolism

signaling

a component

submit of an adaptator-like heterotetrameric (AP-4) complex composed of two large chains (epsilon/AP4E1 and beta/AP4B1),a medium chain (MU/AP4M1) and a small chain (sigma AP4S1)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG52

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS