MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.1.2.-	Hydrolases; Acting on ester bonds; Thioester hydrolases;
7.6.2.-	Translocases; Catalysing the translocation of other compounds; Linked to the hydrolysis of a nucleoside triphosphate;

Structure

PDB	Resolution (Å)	PDB name
7RR9	3.5	Cryo-EM Structure of Nanodisc reconstituted ABCD1 in nucleotide bound outward open conformation
7RRA	4.4	Cryo-EM Structure of Nanodisc reconstituted ABCD1 in inward open conformation
7SHM	3.14	Cryo-EM structure of ATP-bound human peroxisomal fatty acid transporter ABCD1
7SHN	3.1	Cryo-EM structure of oleoyl-CoA-bound human peroxisomal fatty acid transporter ABCD1
7VR1	3.4	Cryo-EM structure of the ATP-binding cassette sub-family D member 1 from Homo sapiens
7VWC	3.53	Cryo-EM structure of human very long-chain fatty acid ABC transporter ABCD1
7VX8	2.8	Cryo-EM structure of ATP-bound human very long-chain fatty acid ABC transporter ABCD1
7VZB	3.59	Cryo-EM structure of C22:0-CoA bound human very long-chain fatty acid ABC transporter ABCD1
7X07	3.78	Cryo-EM structure of human ABCD1 in the presence of C26:0
7X0T	3.3	Cryo-EM structure of human ABCD1 E630Q in the presence of C26:0-CoA and ATP
7X0Z	2.96	Cryo-EM structure of human ABCD1 E630Q in the presence of ATP and Magnesium in outward-facing state
7X1W	3.3	Cryo-EM structure of human ABCD1 E630Q in the presence of ATP in inward-facing state
7XEC	3.34	Cryo-EM structure of human ABCD1 E630Q in the presence of ATP in inward-facing state 2
7YRQ	3.35	Cryo-EM structure of human Peroxisomal ABC Transporter ABCD1

GO term

GO ontology	GO term	GO description
Biological Process	GO:0036109	alpha-linolenic acid metabolic process
Biological Process	GO:0006635	fatty acid beta-oxidation
Biological Process	GO:0030497	fatty acid elongation
Biological Process	GO:0055089	fatty acid homeostasis
Biological Process	GO:0043651	linoleic acid metabolic process
Biological Process	GO:0042758	long-chain fatty acid catabolic process
Biological Process	GO:0015910	long-chain fatty acid import into peroxisome
Biological Process	GO:0043217	myelin maintenance
Biological Process	GO:1900016	negative regulation of cytokine production involved in inflammatory response
Biological Process	GO:1903427	negative regulation of reactive oxygen species biosynthetic process
Biological Process	GO:1990535	neuron projection maintenance
Biological Process	GO:0015919	peroxisomal membrane transport
Biological Process	GO:0007031	peroxisome organization
Biological Process	GO:0032000	positive regulation of fatty acid beta-oxidation
Biological Process	GO:2001280	positive regulation of unsaturated fatty acid biosynthetic process
Biological Process	GO:1900407	regulation of cellular response to oxidative stress
Biological Process	GO:0031998	regulation of fatty acid beta-oxidation
Biological Process	GO:0051900	regulation of mitochondrial depolarization
Biological Process	GO:0002082	regulation of oxidative phosphorylation
Biological Process	GO:0055092	sterol homeostasis
Biological Process	GO:0042760	very long-chain fatty acid catabolic process
Biological Process	GO:0000038	very long-chain fatty acid metabolic process
Biological Process	GO:0036113	very long-chain fatty-acyl-CoA catabolic process
Molecular Function	GO:0015607	ABC-type fatty-acyl-CoA transporter activity
Molecular Function	GO:0043531	ADP binding
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0016887	ATP hydrolysis activity
Molecular Function	GO:0042626	ATPase-coupled transmembrane transporter activity
Molecular Function	GO:0047617	acyl-CoA hydrolase activity
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0005324	long-chain fatty acid transporter activity
Molecular Function	GO:0046982	protein heterodimerization activity
Molecular Function	GO:0042803	protein homodimerization activity
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0005765	lysosomal membrane
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0031966	mitochondrial membrane
Cellular Component	GO:0048471	perinuclear region of cytoplasm
Cellular Component	GO:0005778	peroxisomal membrane
Cellular Component	GO:0005777	peroxisome

InterPro / Pfam

InterPro	InterPro name
IPR003439	ABC transporter-like, ATP-binding domain
IPR003593	AAA+ ATPase domain
IPR005283	Peroxysomal long chain fatty acyl transporter
IPR011527	ABC transporter type 1, transmembrane domain
IPR017871	ABC transporter-like, conserved site
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR036640	ABC transporter type 1, transmembrane domain superfamily

Pfam	Pfam name
PF00005	ABC transporter
PF06472	ABC transporter transmembrane region 2

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1369062	ABC transporters in lipid homeostasis	Leaf	R-HSA-382551	Transport of small molecules
R-HSA-2046105	Linoleic acid (LA) metabolism	Leaf	R-HSA-1430728	Metabolism
R-HSA-2046106	alpha-linolenic acid (ALA) metabolism	Leaf	R-HSA-1430728	Metabolism
R-HSA-390247	Beta-oxidation of very long chain fatty acids	Leaf	R-HSA-1430728	Metabolism
R-HSA-5684045	Defective ABCD1 causes ALD	Leaf	R-HSA-1643685	Disease
R-HSA-9603798	Class I peroxisomal membrane protein import	Leaf	R-HSA-9609507	Protein localization

Subcellular location

Location	ECO term	Pubmed
Endoplasmic reticulum membrane	ECO:0000269	PubMed:16946495
Lysosome membrane	ECO:0000269	PubMed:16946495
Mitochondrion membrane	ECO:0000269	PubMed:16946495
Peroxisome membrane	ECO:0000269	PubMed:10777694
Peroxisome membrane	ECO:0000269	PubMed:16946495
Peroxisome membrane	ECO:0000269	PubMed:17609205
Peroxisome membrane	ECO:0000269	PubMed:18757502
Peroxisome membrane	ECO:0000269	PubMed:29397936

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000012	Urinary urgency
HP:0000016	Urinary retention
HP:0000020	Urinary incontinence
HP:0000026	Male hypogonadism
HP:0000135	Hypogonadism
HP:0000317	Facial myokymia
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000572	Visual loss
HP:0000618	Blindness
HP:0000657	Oculomotor apraxia
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000726	Dementia
HP:0000736	Short attention span
HP:0000752	Hyperactivity
HP:0000764	Peripheral axonal degeneration
HP:0000802	Impotence
HP:0000846	Adrenal insufficiency
HP:0000849	Adrenocortical abnormality
HP:0000953	Hyperpigmentation of the skin
HP:0001000	Abnormality of skin pigmentation
HP:0001181	Adducted thumb
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001268	Mental deterioration
HP:0001269	Hemiparesis
HP:0001271	Polyneuropathy
HP:0001283	Bulbar palsy
HP:0001285	Spastic tetraparesis
HP:0001288	Gait disturbance
HP:0001289	Confusion
HP:0001310	Dysmetria
HP:0001328	Specific learning disability
HP:0001347	Hyperreflexia
HP:0001350	Slurred speech
HP:0001419	X-linked recessive inheritance
HP:0001531	Failure to thrive in infancy
HP:0001596	Alopecia
HP:0001824	Weight loss
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002017	Nausea and vomiting
HP:0002019	Constipation
HP:0002027	Abdominal pain
HP:0002061	Lower limb spasticity
HP:0002064	Spastic gait
HP:0002070	Limb ataxia
HP:0002078	Truncal ataxia
HP:0002143	Abnormal spinal cord morphology
HP:0002167	Abnormality of speech or vocalization
HP:0002180	Neurodegeneration
HP:0002186	Apraxia
HP:0002196	Myelopathy
HP:0002213	Fine hair
HP:0002251	Aganglionic megacolon
HP:0002283	Global brain atrophy
HP:0002292	Frontal balding
HP:0002311	Incoordination
HP:0002354	Memory impairment
HP:0002355	Difficulty walking
HP:0002371	Loss of speech
HP:0002385	Paraparesis
HP:0002500	Abnormal cerebral white matter morphology
HP:0002518	Abnormal periventricular white matter morphology
HP:0002540	Inability to walk
HP:0002607	Bowel incontinence
HP:0002839	Urinary bladder sphincter dysfunction
HP:0002936	Distal sensory impairment
HP:0003089	Hamstring contractures
HP:0003418	Back pain
HP:0003455	Elevated circulating long chain fatty acid concentration
HP:0003477	Peripheral axonal neuropathy
HP:0003487	Babinski sign
HP:0003676	Progressive
HP:0004302	Functional motor deficit
HP:0004322	Short stature
HP:0004359	Abnormal circulating fatty-acid concentration
HP:0005214	Intestinal obstruction
HP:0006827	Atrophy of the spinal cord
HP:0006938	Impaired vibration sensation at ankles
HP:0007006	Dorsal column degeneration
HP:0007018	Attention deficit hyperactivity disorder
HP:0007034	Generalized hyperreflexia
HP:0007141	Sensorimotor neuropathy
HP:0007162	Diffuse demyelination of the cerebral white matter
HP:0007199	Progressive spastic paraparesis
HP:0007266	Cerebral dysmyelination
HP:0007305	CNS demyelination
HP:0007340	Lower limb muscle weakness
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
HP:0007663	Reduced visual acuity
HP:0008163	Decreased circulating cortisol level
HP:0008167	Very long chain fatty acid accumulation
HP:0008207	Primary adrenal insufficiency
HP:0008969	Leg muscle stiffness
HP:0009053	Distal lower limb muscle weakness
HP:0009830	Peripheral neuropathy
HP:0010284	Intra-oral hyperpigmentation
HP:0010527	Astereognosia
HP:0010794	Impaired visuospatial constructive cognition
HP:0011448	Ankle clonus
HP:0011749	Adrenocorticotropic hormone excess
HP:0012378	Fatigue
HP:0012501	Abnormal brainstem white matter morphology
HP:0012534	Dysesthesia
HP:0012719	Functional abnormality of the gastrointestinal tract
HP:0030014	Female sexual dysfunction
HP:0030177	Abnormality of peripheral nervous system electrophysiology
HP:0030222	Visual agnosia
HP:0031064	Impaired continence
HP:0031358	Vegetative state
HP:0031845	Abnormal libido
HP:0031993	Hoffmann sign
HP:0040078	Axonal degeneration
HP:0040288	Nasogastric tube feeding
HP:0040307	Male sexual dysfunction
HP:0045084	Limb myoclonus
HP:0100031	Neoplasm of the thyroid gland
HP:0100291	Abnormality of central somatosensory evoked potentials
HP:0100502	Vitamin B12 deficiency
HP:0100543	Cognitive impairment
HP:0100639	Erectile dysfunction
HP:0100806	Sepsis
HP:0100816	Lip hyperpigmentation
HP:0200008	Intestinal polyposis
HP:0410263	Brain imaging abnormality

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Approved
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	Low	Approved
bone marrow	hematopoietic cells	Low	Approved
breast	adipocytes	Low	Approved
breast	glandular cells	Low	Approved
breast	myoepithelial cells	Low	Approved
bronchus	respiratory epithelial cells	Low	Approved
cerebral cortex	neuropil	Low	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	Low	Approved
colon	peripheral nerve/ganglion	Low	Approved
duodenum	glandular cells	Medium	Approved
epididymis	glandular cells	Low	Approved
fallopian tube	glandular cells	Low	Approved
gallbladder	glandular cells	Medium	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Medium	Approved
lung	macrophages	Low	Approved
nasopharynx	respiratory epithelial cells	Low	Approved
oral mucosa	squamous epithelial cells	Low	Approved
ovary	follicle cells	Low	Approved
pancreas	exocrine glandular cells	Low	Approved
parathyroid gland	glandular cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
rectum	glandular cells	Low	Approved
seminal vesicle	glandular cells	Low	Approved
skeletal muscle	myocytes	Medium	Approved
skin 1	fibroblasts	Low	Approved
skin 1	melanocytes	Low	Approved
small intestine	glandular cells	Medium	Approved
smooth muscle	smooth muscle cells	Medium	Approved
soft tissue 1	chondrocytes	Low	Approved
soft tissue 2	fibroblasts	Low	Approved
spleen	cells in red pulp	Low	Approved
stomach 1	glandular cells	Medium	Approved
testis	Leydig cells	Low	Approved
testis	cells in seminiferous ducts	Medium	Approved
tonsil	squamous epithelial cells	Low	Approved
urinary bladder	urothelial cells	Low	Approved

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
intellectual disability	MONDO:0001071	F70	chapter5, Mental and behavioural disorders		Orphanet:319658
obsolete addison disease	MONDO:0009410	E27	chapter4, Endocrine, nutritional and metabolic diseases
x-linked cerebral adrenoleukodystrophy	MONDO:0010247	E71	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:139396
adrenomyeloneuropathy	MONDO:0015339	E71	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:139399
hirschsprung disease	MONDO:0018309	Q43	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIMPS:142623	Orphanet:388

Summary of P33897

Gene: ABCD1, ALD
Protein: ATP-binding cassette sub-family D member 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P33897

Gene: ABCD1, ALD Protein: ATP-binding cassette sub-family D member 1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: ABCD1, ALD
Protein: ATP-binding cassette sub-family D member 1