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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

Corresponding disease	SPG52 spastic paraplegia 52
Location	14q12      Physical location : 31.494.682 - 31.562.634
Synonym symbol(s)	AP47B, CLA20, CLAPS4, FLJ32366

DNA

TYPE	functioning gene
STRUCTURE	60.00 kb     6 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_007077 1 - 1797 18 159 - 1999 10436028 NM_001128126 1 - 1256 17 144 - 1999 10436028

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 brain         Respiratory lung         Urinary kidney

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

pregnancy

Text

placenta

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