MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.6.4.-	Hydrolases; Acting on acid anhydrides; Acting on acid anhydrides to facilitate cellular and subcellular movement;

Structure

GO term

GO ontology	GO term	GO description
Biological Process	GO:0060152	microtubule-based peroxisome localization
Biological Process	GO:0007031	peroxisome organization
Biological Process	GO:0016558	protein import into peroxisome matrix
Biological Process	GO:0016562	protein import into peroxisome matrix, receptor recycling
Biological Process	GO:0006625	protein targeting to peroxisome
Biological Process	GO:0043335	protein unfolding
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0016887	ATP hydrolysis activity
Molecular Function	GO:0140318	protein transporter activity
Molecular Function	GO:0044877	protein-containing complex binding
Molecular Function	GO:0140036	ubiquitin-dependent protein binding
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0005778	peroxisomal membrane
Cellular Component	GO:0005777	peroxisome

InterPro / Pfam

InterPro	InterPro name
IPR003593	AAA+ ATPase domain
IPR003959	ATPase, AAA-type, core
IPR003960	ATPase, AAA-type, conserved site
IPR009010	Aspartate decarboxylase-like domain superfamily
IPR015342	Peroxisomal ATPase PEX1, N-terminal C-lobe
IPR015343	Peroxisomal ATPase PEX1, N-terminal N-lobe
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR029067	CDC48 domain 2-like superfamily
IPR041569	AAA ATPase, AAA+ lid domain

Pfam	Pfam name
PF00004	ATPase family associated with various cellular activities (AAA)
PF09262	Peroxisome biogenesis factor 1, N-terminal
PF09263	Peroxisome biogenesis factor 1, N-terminal
PF17862	AAA+ lid domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-9033241	Peroxisomal protein import	Internal node	R-HSA-9609507	Protein localization

Subcellular location

Location	ECO term	Pubmed
Cytoplasm, cytosol	ECO:0000269	PubMed:16854980
Peroxisome membrane	ECO:0000269	PubMed:11439091
Peroxisome membrane	ECO:0000269	PubMed:12717447
Peroxisome membrane	ECO:0000269	PubMed:16854980
Peroxisome membrane	ECO:0000269	PubMed:21362118

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0011675	Arrhythmia
HP:0002416	Subependymal cysts
HP:0006297	Enamel hypoplasia
HP:0003777	Pili torti
HP:0005469	Flat occiput
HP:0000705	Amelogenesis imperfecta
HP:0001401	Intrahepatic biliary dysgenesis
HP:0100643	Abnormality of nail color
HP:0002093	Respiratory insufficiency
HP:0011344	Severe global developmental delay
HP:0003819	Death in childhood
HP:0000174	Abnormal palate morphology
HP:0000260	Wide anterior fontanel
HP:0000272	Malar flattening
HP:0005989	Redundant neck skin
HP:0003355	Aminoaciduria
HP:0000252	Microcephaly
HP:0045074	Thin eyebrow
HP:0100022	Abnormality of movement
HP:0000316	Hypertelorism
HP:0008207	Primary adrenal insufficiency
HP:0009487	Ulnar deviation of the hand
HP:0000954	Single transverse palmar crease
HP:0000532	Abnormal chorioretinal morphology
HP:0007814	Retinal pigment epithelial mottling
HP:0001231	Abnormal fingernail morphology
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000047	Hypospadias
HP:0002269	Abnormality of neuronal migration
HP:0000157	Abnormality of the tongue
HP:0012368	Flat face
HP:0001252	Hypotonia
HP:0000956	Acanthosis nigricans
HP:0000786	Primary amenorrhea
HP:0003593	Infantile onset
HP:0002415	Leukodystrophy
HP:0001840	Metatarsus adductus
HP:0003241	External genital hypoplasia
HP:0001250	Seizure
HP:0000505	Visual impairment
HP:0000407	Sensorineural hearing impairment
HP:0002359	Frequent falls
HP:0000662	Nyctalopia
HP:0003623	Neonatal onset
HP:0001133	Constriction of peripheral visual field
HP:0000286	Epicanthus
HP:0000244	Brachyturricephaly
HP:0011362	Abnormal hair quantity
HP:0002505	Loss of ambulation
HP:0000311	Round face
HP:0000627	Posterior embryotoxon
HP:0007370	Aplasia/Hypoplasia of the corpus callosum
HP:0012592	Albuminuria
HP:0002021	Pyloric stenosis
HP:0008064	Ichthyosis
HP:0001176	Large hands
HP:0001820	Leukonychia
HP:0001315	Reduced tendon reflexes
HP:0001249	Intellectual disability
HP:0000028	Cryptorchidism
HP:0001643	Patent ductus arteriosus
HP:0000543	Optic disc pallor
HP:0002376	Developmental regression
HP:0000582	Upslanted palpebral fissure
HP:0010547	Muscle flaccidity
HP:0006887	Intellectual disability, progressive
HP:0002120	Cerebral cortical atrophy
HP:0006829	Severe muscular hypotonia
HP:0001399	Hepatic failure
HP:0007703	Abnormality of retinal pigmentation
HP:0005930	Abnormal epiphysis morphology
HP:0001193	Ulnar deviation of the hand or of fingers of the hand
HP:0000486	Strabismus
HP:0001251	Ataxia
HP:0006579	Prolonged neonatal jaundice
HP:0003455	Elevated circulating long chain fatty acid concentration
HP:0003323	Progressive muscle weakness
HP:0001347	Hyperreflexia
HP:0000358	Posteriorly rotated ears
HP:0007957	Corneal opacity
HP:0100490	Camptodactyly of finger
HP:0008167	Very long chain fatty acid accumulation
HP:0001623	Breech presentation
HP:0000474	Thickened nuchal skin fold
HP:0001939	Abnormality of metabolism/homeostasis
HP:0041093	Beau's lines
HP:0003159	Hyperoxaluria
HP:0002514	Cerebral calcification
HP:0007598	Bilateral single transverse palmar creases
HP:0004734	Renal cortical microcysts
HP:0010864	Intellectual disability, severe
HP:0009830	Peripheral neuropathy
HP:0000708	Atypical behavior
HP:0000218	High palate
HP:0001263	Global developmental delay
HP:0000492	Abnormal eyelid morphology
HP:0000679	Taurodontia
HP:0000135	Hypogonadism
HP:0001762	Talipes equinovarus
HP:0100543	Cognitive impairment
HP:0000819	Diabetes mellitus
HP:0008388	Abnormal toenail morphology
HP:0000580	Pigmentary retinopathy
HP:0011968	Feeding difficulties
HP:0000750	Delayed speech and language development
HP:0002240	Hepatomegaly
HP:0001622	Premature birth
HP:0002015	Dysphagia
HP:0001591	Bell-shaped thorax
HP:0000501	Glaucoma
HP:0002317	Unsteady gait
HP:0000763	Sensory neuropathy
HP:0002024	Malabsorption
HP:0000431	Wide nasal bridge
HP:0010655	Epiphyseal stippling
HP:0000510	Rod-cone dystrophy
HP:0010808	Protruding tongue
HP:0004492	Widely patent fontanelles and sutures
HP:0000107	Renal cyst
HP:0000347	Micrognathia
HP:0001392	Abnormality of the liver
HP:0007759	Opacification of the corneal stroma
HP:0001319	Neonatal hypotonia
HP:0001928	Abnormality of coagulation
HP:0006894	Hypoplastic olfactory lobes
HP:0000268	Dolichocephaly
HP:0001290	Generalized hypotonia
HP:0000365	Hearing impairment
HP:0009890	High anterior hairline
HP:0002643	Neonatal respiratory distress
HP:0001508	Failure to thrive
HP:0000648	Optic atrophy
HP:0008572	External ear malformation
HP:0002652	Skeletal dysplasia
HP:0000444	Convex nasal ridge
HP:0000614	Abnormal nasolacrimal system morphology
HP:0001284	Areflexia
HP:0000007	Autosomal recessive inheritance
HP:0009891	Underdeveloped supraorbital ridges
HP:0005280	Depressed nasal bridge
HP:0002353	EEG abnormality
HP:0000952	Jaundice
HP:0000158	Macroglossia
HP:0004322	Short stature
HP:0000003	Multicystic kidney dysplasia
HP:0002282	Gray matter heterotopia
HP:0000463	Anteverted nares
HP:0001088	Brushfield spots
HP:0001265	Hyporeflexia
HP:0008872	Feeding difficulties in infancy
HP:0000271	Abnormality of the face
HP:0008665	Clitoral hypertrophy
HP:0001395	Hepatic fibrosis
HP:0001638	Cardiomyopathy
HP:0000534	Abnormal eyebrow morphology
HP:0007754	Macular dystrophy
HP:0002126	Polymicrogyria
HP:0002967	Cubitus valgus
HP:0002750	Delayed skeletal maturation
HP:0000682	Abnormal dental enamel morphology
HP:0000512	Abnormal electroretinogram
HP:0002089	Pulmonary hypoplasia
HP:0010571	Elevated circulating phytanic acid concentration
HP:0000368	Low-set, posteriorly rotated ears
HP:0001838	Rocker bottom foot
HP:0001257	Spasticity
HP:0010628	Facial palsy
HP:0000518	Cataract
HP:0000508	Ptosis
HP:0000126	Hydronephrosis
HP:0011800	Midface retrusion
HP:0000639	Nystagmus
HP:0000256	Macrocephaly
HP:0012736	Profound global developmental delay
HP:0011039	Abnormal helix morphology
HP:0001394	Cirrhosis
HP:0002705	High, narrow palate
HP:0001629	Ventricular septal defect
HP:0001522	Death in infancy
HP:0000835	Adrenal hypoplasia
HP:0000164	Abnormality of the dentition

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
appendix	glandular cells	Medium	Approved
breast	glandular cells	Medium	Approved
bronchus	respiratory epithelial cells	Medium	Approved
cervix	glandular cells	Low	Approved
colon	glandular cells	Medium	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	glandular cells	Low	Approved
endometrium 2	glandular cells	Low	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Low	Approved
fallopian tube	glandular cells	Medium	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Low	Approved
kidney	cells in tubules	Medium	Approved
nasopharynx	respiratory epithelial cells	Medium	Approved
ovary	follicle cells	Low	Approved
pancreas	exocrine glandular cells	Low	Approved
parathyroid gland	glandular cells	Medium	Approved
placenta	decidual cells	Medium	Approved
placenta	trophoblastic cells	Medium	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	Medium	Approved
salivary gland	glandular cells	Low	Approved
skeletal muscle	myocytes	Medium	Approved
small intestine	glandular cells	Medium	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
thyroid gland	glandular cells	Low	Approved
urinary bladder	urothelial cells	Medium	Approved

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
peroxisome biogenesis disorder 1a (zellweger)	MONDO:0008953	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:214100
peroxisome biogenesis disorder 1a (zellweger)	MONDO:0008953	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:214100
peroxisome biogenesis disorder 1b	MONDO:0011101	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:601539	Orphanet:44
peroxisome biogenesis disorder 1b	MONDO:0011101	E71	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:601539	Orphanet:772
peroxisome biogenesis disorder 1b	MONDO:0011101	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601539	Orphanet:44
peroxisome biogenesis disorder 1b	MONDO:0011101	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601539	Orphanet:772
obsolete neonatal adrenoleukodystrophy	MONDO:0018598	E71	chapter4, Endocrine, nutritional and metabolic diseases		Orphanet:44
leber congenital amaurosis	MONDO:0018998	H35	chapter7, Diseases of the eye and adnexa	OMIMPS:204000	Orphanet:65
obsolete heimler syndrome 1	MONDO:0024544	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:234580

Summary of O43933

Gene: PEX1
Protein: Peroxisomal ATPase PEX1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of O43933

Gene: PEX1 Protein: Peroxisomal ATPase PEX1

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: PEX1
Protein: Peroxisomal ATPase PEX1