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FLASH GENE

Symbol

AP4M1

contributors: mct/npt - updated : 25-08-2009

HGNC name	adaptor-related protein complex 4, mu 1 subunit
HGNC id	574

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG50 spastic paraplegia 50
Location	7q22.1      Physical location : 99.699.129 - 99.704.802
Synonym name	AP-4 adapter complex mu subunit
	mu-adaptin-related protein-2
	mu subunit of AP-4
Synonym symbol(s)	MU-4, MU-ARP2

DNA

TYPE	functioning gene
STRUCTURE	5.67 kb     15 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_004722 15 - 1886 NP_004713 49.8 453 - Verkerk (2009)

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       lowly Reproductive male system testis     highly Respiratory lung       lowly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies

ortholog to murine Ap4m1

Homologene

FAMILY

adaptor complexes medium subunit family

CATEGORY

adaptor

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

basic FUNCTION	involved in the recognition and the sorting of cargo proteins with tyrosin-based motifs from the trans-Golgi network to the endosomal-lysosomal system
	involved in intracellular trafficking of glutamate receptors (Verkerk 2009)

CELLULAR PROCESS

protein, post translation, targeting

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterotetramerized with AP4B1, AP4E1, AP4S1

INTERACTION

DNA

RNA

small molecule

protein

binding specifically to tyrosin-based sorting signal

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG50

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS