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FLASH GENE

Symbol

ABCD3

contributors: mct - updated : 23-05-2018

HGNC name	ATP-binding cassette, sub-family D (ALD), member 3
HGNC id	67

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ZWS2 Zellweger cerebrohepatorenal syndrome, variant type 1
Location	1p21.3      Physical location : 94.883.932 - 94.984.218
Synonym name	peroxisomal membrane protein 1, 70kD
	peroxisomal membrane protein 1 (70kD, Zellweger syndrome)
Synonym symbol(s)	PMP1, PMP70, PXMP1, ABC43, ABD3

DNA

TYPE	like-sequence
STRUCTURE	100.29 kb     23 Exon(s)

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

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two alternative messengers PEX19deltaE2 and deltaE8, leeding to considerable functional diversite

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002858 23 - 3616 NP_002849 - 659 - 2002 12176987 NM_001122674 9 - 967 NP_001116146 - 236 - 2002 12176987

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 Cardiovascular heart       moderately Digestive liver       moderately Endocrine pancreas       moderately Reproductive male system testis       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	in all tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal 80 AAs (N80)-segment preceding transmembrane segment (TM) 1, critical for suppressing the ER-targeting function to allow the TM1-TM2 region to localize to the peroxisome , and this N-terminal hydrophobic region is targeted to peroxisomes
	one ATP binding domain
	one transmembrane domain (1 TM, six segments)

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Abcd3

Homologene

FAMILY

ATP binding cassette superfamily, subfamily D (ALD)

CATEGORY

signaling , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
text	associates with the Golgi Apparatus (localizing to the cytoplasmic face of the Golgi membranes)
	becomes cytosolic only during mitosis

basic FUNCTION	half ABC transporter, traffic ATPase, involved in early steps of peroxisomal membrane synthesis
	specific involvement of ABCD2 and ABCD3 in polyunsaturated fatty acids metabolism
	having partial functional redundancy with ABCD1
	could affect the clinical course of X-linked adrenoleukodystrophy
	involved in the transport of long and branched chain acyl-CoA

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homo- and heterodimerizing with other ATP binding cassette half-transporters

INTERACTION

DNA

RNA

small molecule

protein	PEX19 keeping ABCD3 as a proper conformation for the localization to peroxisome
	interacting with ABCD1 for regulation of fatty acid transport into peroxisomes
	interaction of ASPSCR1 with Golgi proteins, including ACBD3 (acyl-CoA binding domain-containing 3)
	ACBD3 is capable of recruiting PI4KB to membranes , and membrane recruitment of PI4KB by ACBD3 increases its enzymatic activity
	suppression of oxidative stress could be involved in the INTS7/ABCD3 co-regulatory mechanisms for bone marrow mesenchymal stem cells (BM-MSCs) proliferation and differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ZWS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS