Tbio ABCD1 ATP-binding cassette sub-family D member 1

Protein Summary

Description

Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity). The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P33897
• Q6GTZ2

Gene Name

• ABCD1

Ensembl ID

• ENST00000218104
• ENSP00000218104
• ENSG00000101986

Symbol

• ALD
• ALD
• AMN
• ALDP
• ABC42

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	1
protein domain	0.85
virus perturbation	0.85
histone modification site profile	0.77
cellular component	0.74

Protein Classes

PANTHER Classes

Protein / Transporter / Atp-binding Cassette Sub-family D Member 1

DTO Classes

Protein / Transporter / Atp-binding Cassette Transporter Family / Abcd Subfamily Of Peroxisomal Abc Transporters / Atp-binding Cassette Sub-family D Member 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 174.6   (req: < 5)

Gene RIFs: 63   (req: <= 3)

Antibodies: 373   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 174.6   (req: >= 5)

Gene RIFs: 63   (req: > 3)

Antibodies: 373   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 34

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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GENEVA

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GlyGen

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (94)

Explore Interacting Targets

1 – 10 of 94

• See Interactions on String-DB

ATP2B2

Tbio

Family:  Transporter

Novelty:  0.007782

p_int:  0.99998463

p_ni:  0.00001537

Score:  0.242

Data Source:  BioPlex,STRINGDB

VASN

Tbio

Novelty:  0.05424159

p_int:  0.999979761

p_ni:  0.000020238

p_wrong:  1e-9

Score:  0.173

Data Source:  BioPlex,STRINGDB

PBXIP1

Tbio

Novelty:  0.15404864

p_int:  0.999874741

p_ni:  0.000125258

p_wrong:  2e-9

Data Source:  BioPlex

SLC39A4

Tbio

Family:  Transporter

Novelty:  0.00742159

p_int:  0.999815311

p_ni:  0.000183731

p_wrong:  9.58e-7

Data Source:  BioPlex

BSG

Tbio

Novelty:  0.0010285

p_int:  0.99911507

p_ni:  0.000847755

p_wrong:  0.000037175

Data Source:  BioPlex

MAS1

Tchem

Family:  GPCR

Novelty:  0.0089712

p_int:  0.999055897

p_ni:  0.000944103

p_wrong:  1e-9

Data Source:  BioPlex

CTLA4

Tclin

Novelty:  0.00012781

p_int:  0.997047677

p_ni:  0.002932232

p_wrong:  0.000020091

Data Source:  BioPlex

APLNR

Tchem

Family:  GPCR

Novelty:  0.00224203

p_int:  0.996502309

p_ni:  0.003412851

p_wrong:  0.00008484

Data Source:  BioPlex

SCN3B

Tbio

Family:  IC

Novelty:  0.0438123

p_int:  0.992467418

p_ni:  0.007479343

p_wrong:  0.000053239

Data Source:  BioPlex

TMEM9

Tbio

Novelty:  0.06916197

p_int:  0.991163481

p_ni:  0.008718692

p_wrong:  0.000117827

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (20)

Reactome (17)

KEGG (2)

WikiPathways (1)

ABC transporter disorders (R-HSA-5619084)

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1 – 5 of 17

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	ABC transporter disorders	78 targets	R-HSA-5619084
Reactome	ABC transporters in lipid homeostasis	18 targets	R-HSA-1369062
Reactome	ABC-family proteins mediated transport	104 targets	R-HSA-382556
Reactome	Beta-oxidation of very long chain fatty acids	11 targets	R-HSA-390247
Reactome	Class I peroxisomal membrane protein import	20 targets	R-HSA-9603798

Name	Explore in Pharos	Explore in Source
ABC transporter disorders	78 targets	R-HSA-5619084
ABC transporters in lipid homeostasis	18 targets	R-HSA-1369062
ABC-family proteins mediated transport	104 targets	R-HSA-382556
Beta-oxidation of very long chain fatty acids	11 targets	R-HSA-390247
Class I peroxisomal membrane protein import	20 targets	R-HSA-9603798

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (44)

Functions (10)

Components (10)

Processes (24)

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10

1 – 10 of 10

GO Term	Evidence	Assigned by
ADP binding	Inferred from Direct Assay (IDA)	UniProtKB
ATP binding	Inferred from Direct Assay (IDA)	UniProtKB
ATPase activity	Inferred from Direct Assay (IDA)	UniProtKB
fatty-acyl-CoA transmembrane transporter activity	Inferred from Direct Assay (IDA)	UniProtKB
protein homodimerization activity	Inferred from Direct Assay (IDA)	UniProtKB
enzyme binding	Inferred from Physical Interaction (IPI)	UniProtKB
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
long-chain fatty acid transporter activity	Inferred from Genetic Interaction (IGI)	UniProtKB
ATPase activity, coupled to transmembrane movement of substances	Non-traceable Author Statement (NAS)	UniProtKB
transporter activity	Non-traceable Author Statement (NAS)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (6)

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1 – 5 of 6

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
HbA1c measurement	EFO_0004541	2	2	2		87
type II diabetes mellitus	EFO_0001360	4	2	0	1.2	87
hemoglobin measurement	EFO_0004509	1	1	1		29.9
hematocrit	EFO_0004348	1	1	1		29
body mass index	EFO_0004340	1	1	1		10

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
HbA1c measurement	EFO_0004541	2		87
type II diabetes mellitus	EFO_0001360	0	1.2	87
hemoglobin measurement	EFO_0004509	1		29.9
hematocrit	EFO_0004348	1		29
body mass index	EFO_0004340	1		10

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UniProt Keyword Find Similar Targets

No Header	No Header
ATP-binding
Complete proteome
Disease mutation
Endoplasmic reticulum
Glycoprotein
Lysosome
Membrane
Mitochondrion
Nucleotide-binding
Peroxisome

GWAS Trait Find Similar Targets

No Header	No Header
body mass index
glomerular filtration rate
HbA1c measurement
hematocrit
hemoglobin measurement
type II diabetes mellitus

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
endocrine/exocrine gland phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
nervous system phenotype
reproductive system phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	ATP binding cassette subfamily D member 1		696794
Mouse	ATP-binding cassette, sub-family D (ALD), member 1	MGI:1349215	11666
Rat	ATP binding cassette subfamily D member 1	RGD:1562128	363516
Dog	ATP binding cassette subfamily D member 1	VGNC:37445	612520
Horse	ATP binding cassette subfamily D member 1	VGNC:14923	100058868

Species	Name	OMA	EggNOG	Inparanoid
Macaque	ATP binding cassette subfamily D member 1
Mouse	ATP-binding cassette, sub-family D (ALD), member 1
Rat	ATP binding cassette subfamily D member 1
Dog	ATP binding cassette subfamily D member 1
Horse	ATP binding cassette subfamily D member 1

Publication Statistics

PubMed Score 174.60

PubMed score by year

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PubTator Score 275.16

PubTator score by year

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Related Publications

Text Mined References (116)

GeneRif Annotations (63)

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PMID	Year	Title