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FLASH GENE

Symbol

ABCA7

contributors: mct - updated : 02-01-2012

HGNC name	ATP-binding cassette, sub-family A (ABC1), member 7
HGNC id	37

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19p13.3      Physical location : 1.040.101 - 1.065.568
Synonym symbol(s)	ABCX, ABCA-SSN

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
STRUCTURE	25.47 kb     47 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   transcription factor
text structure	arranged head to tail with antigen HA1-(KIAA0223)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	alternative splicing involved in the transcriptional regulation of the expression and function of ABCA7

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed ABCA7-Ia or type I NM_019112 47 - 6834 225 2146 - Kaminski, Ikeda ABCA7-Ia or type I localized to the plasma membrane involved in APOA1 dependent cholesterol and phosphpolipid release ABCA7-Ib or type II - splicing 6170 211 2008 - Kaminski, Ikeda mainly localized to the endoplasmic reticulum not involved in APOA1 dependent cholesterol and phosphpolipid release

EXPRESSION

Type

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 blood / hematopoietic thymus         Nervous brain limbic system hippocampus   highly Homo sapiens Urinary kidney tubule convoluted tubule proximal tubule   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Lymphoid/Immune macrophage Nervous neuron Homo sapiens Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

cell cycle

cell cycle

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two ATP binding cassettes with Walker A and B motifs and signature sequence
	two transmembrane (TM) domains,(2x6 semgents)
	an extra-cellular domain

HOMOLOGY

interspecies	homolog to murine Abca7
	ortholog to C.elegans ced-7

intraspecies	homolog to ABCA1
	homolog to ABCA4

Homologene

FAMILY	ATP binding cassette
	transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
text	apical brush border membrane localization of ABCA7 in the proximal tubule
	endogenous ABCA7 predominantly resides on the cell surface

basic FUNCTION	macrophage transmembrane lipid transport
	its cell surface location in the kidney suggests that it could serve such a role in tissue microenvironments
	involved in terminal keratinocyte differentiation intracellular and regulator of ceramide transport in this process
	playing a possible role in cellular phospholipid metabolism in peripheral tissues
	major role of ABCA7 in the clearance of apoptotic cells
	seems to be one of the key molecules linking sterol homeostasis and the host defense system
	involved in the efflux of lipids from cells to lipoprotein particles

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding APOA1

cell & other

REGULATION

Other

regulated by sterol-regulatory element binding protein (SREBF2)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Alzheimer disease

Variant & Polymorphism SNP	rs3764650 strongly associated with Alzheimer disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS