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FLASH GENE

Symbol

AP4B1

contributors: npt/shn - updated : 06-02-2012

HGNC name	adaptor-related protein complex 4, beta 1 subunit
HGNC id	572

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CPSQ5 Cerebral Plasy Spastic Quadriplegic 5 SPG47 spastic paraplegia 47
Location	1p13.2      Physical location : 114.437.676 - 114.447.741
Synonym name	beta 4 subunit of AP-4
	Beta4-adaptin
	AP-4 complex subunit beta-1
Synonym symbol(s)	BETA-4, SPG47, CPSQ5

DNA

TYPE	functioning gene
STRUCTURE	10.37 kb     11 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D1S487 - D1S2756 - AP4B1 - D1S2881 - D1S1675 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001253852 10 splicing 2723 NP_001240781 - 739 - - NM_001253853 11 splicing 2663 NP_001240782 - 640 - - NM_006594 11 splicing 2791 NP_006585 - 739 - -

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 Cardiovascular heart       highly Homo sapiens Digestive intestine small intestine     moderately Homo sapiens   intestine large intestine colon   moderately Homo sapiens   liver       lowly Homo sapiens Endocrine pancreas       highly Homo sapiens Lymphoid/Immune spleen       highly Homo sapiens   thymus       moderately Homo sapiens Nervous brain       moderately Homo sapiens Reproductive female system placenta     lowly Homo sapiens   female system ovary     highly Homo sapiens   male system prostate     lowly Homo sapiens   male system testis     highly Homo sapiens Respiratory lung       lowly Homo sapiens Urinary kidney       lowly Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	ortholog to Ap4b1, Mus musculus
	ortholog to Ap4b1, Rattus norvegicus
	ortholog to AP4B1, Pan troglodytes

Homologene

FAMILY

adaptor complexes large subunits family

CATEGORY

adaptor , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	mediating protein sorting in the endocytic and late secretory pathways (
	involved in targeting proteins from the trans Golgi network to the endosomal-lysosomal system
	a crucial role in brain development and functioning (

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	non selective vesicle transport
	associated with the trans Golgi network

PATHWAY

metabolism

signaling

a component	a role in signal-mediated trafficking of integral membrane proteins in mammalian cells
	subunit of a novel type of clathrin-associted protein coat
	heterotetramer 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

epsilon subunit of AP-4 (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG47 , CPSQ5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS