Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.2.27
Transferases;
Acyltransferases;
Aminoacyltransferases;
RING-type E3 ubiquitin transferase
2.3.2.36
Transferases;
Acyltransferases;
Aminoacyltransferases;
RING-type E3 ubiquitin transferase (cysteine targeting)
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0034614 | cellular response to reactive oxygen species |
| Biological Process | GO:0006635 | fatty acid beta-oxidation |
| Biological Process | GO:0050680 | negative regulation of epithelial cell proliferation |
| Biological Process | GO:0048147 | negative regulation of fibroblast proliferation |
| Biological Process | GO:0007031 | peroxisome organization |
| Biological Process | GO:0000425 | pexophagy |
| Biological Process | GO:0031648 | protein destabilization |
| Biological Process | GO:0016558 | protein import into peroxisome matrix |
| Biological Process | GO:0016562 | protein import into peroxisome matrix, receptor recycling |
| Biological Process | GO:0044721 | protein import into peroxisome matrix, substrate release |
| Biological Process | GO:0006513 | protein monoubiquitination |
| Biological Process | GO:1990928 | response to amino acid starvation |
| Biological Process | GO:0000038 | very long-chain fatty acid metabolic process |
| Molecular Function | GO:0008320 | protein transmembrane transporter activity |
| Molecular Function | GO:0061630 | ubiquitin protein ligase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0016593 | Cdc73/Paf1 complex |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005778 | peroxisomal membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR001841 | Zinc finger, RING-type |
| IPR006845 | Pex, N-terminal |
| IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| IPR017907 | Zinc finger, RING-type, conserved site |
| IPR018957 | Zinc finger, C3HC4 RING-type |
| IPR025654 | Peroxisome biogenesis factor 2/10 |
| IPR045859 | Peroxisome biogenesis factor 2, HC subclass-RING finger domain |
| Pfam
|
Pfam name |
|---|---|
| PF00097 | Zinc finger, C3HC4 type (RING finger) |
| PF04757 | Pex2 / Pex12 amino terminal region |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-8866654 | E3 ubiquitin ligases ubiquitinate target proteins | Leaf | R-HSA-392499 | Metabolism of proteins |
| R-HSA-9033241 | Peroxisomal protein import | Internal node | R-HSA-9609507 | Protein localization |
| R-HSA-9603798 | Class I peroxisomal membrane protein import | Leaf | R-HSA-9609507 | Protein localization |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Peroxisome membrane | ECO:0000269 | PubMed:12751901 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000107 | Renal cyst |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000126 | Hydronephrosis |
| HP:0000157 | Abnormality of the tongue |
| HP:0000174 | Abnormal palate morphology |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000239 | Large fontanelles |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000268 | Dolichocephaly |
| HP:0000271 | Abnormality of the face |
| HP:0000286 | Epicanthus |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000365 | Hearing impairment |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000518 | Cataract |
| HP:0000532 | Abnormal chorioretinal morphology |
| HP:0000556 | Retinal dystrophy |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000627 | Posterior embryotoxon |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000657 | Oculomotor apraxia |
| HP:0000662 | Nyctalopia |
| HP:0000708 | Atypical behavior |
| HP:0000952 | Jaundice |
| HP:0000954 | Single transverse palmar crease |
| HP:0001088 | Brushfield spots |
| HP:0001093 | Optic nerve dysplasia |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001302 | Pachygyria |
| HP:0001310 | Dysmetria |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001319 | Neonatal hypotonia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001388 | Joint laxity |
| HP:0001392 | Abnormality of the liver |
| HP:0001396 | Cholestasis |
| HP:0001399 | Hepatic failure |
| HP:0001401 | Intrahepatic biliary dysgenesis |
| HP:0001410 | Decreased liver function |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0001522 | Death in infancy |
| HP:0001622 | Premature birth |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001638 | Cardiomyopathy |
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0001744 | Splenomegaly |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0001792 | Small nail |
| HP:0001840 | Metatarsus adductus |
| HP:0001928 | Abnormality of coagulation |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0002021 | Pyloric stenosis |
| HP:0002024 | Malabsorption |
| HP:0002033 | Poor suck |
| HP:0002093 | Respiratory insufficiency |
| HP:0002126 | Polymicrogyria |
| HP:0002197 | Generalized-onset seizure |
| HP:0002240 | Hepatomegaly |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002305 | Athetosis |
| HP:0002317 | Unsteady gait |
| HP:0002353 | EEG abnormality |
| HP:0002376 | Developmental regression |
| HP:0002557 | Hypoplastic nipples |
| HP:0002652 | Skeletal dysplasia |
| HP:0002764 | Stippled chondral calcification |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0002967 | Cubitus valgus |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003323 | Progressive muscle weakness |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003677 | Slowly progressive |
| HP:0003819 | Death in childhood |
| HP:0003828 | Variable expressivity |
| HP:0004322 | Short stature |
| HP:0004474 | Persistent open anterior fontanelle |
| HP:0004734 | Renal cortical microcysts |
| HP:0005180 | Tricuspid regurgitation |
| HP:0005280 | Depressed nasal bridge |
| HP:0005469 | Flat occiput |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0006829 | Severe muscular hypotonia |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0007227 | Macrogyria |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007957 | Corneal opacity |
| HP:0008064 | Ichthyosis |
| HP:0008167 | Very long chain fatty acid accumulation |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0008572 | External ear malformation |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009046 | Difficulty running |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0010571 | Elevated circulating phytanic acid concentration |
| HP:0010628 | Facial palsy |
| HP:0010655 | Epiphyseal stippling |
| HP:0011039 | Abnormal helix morphology |
| HP:0011344 | Severe global developmental delay |
| HP:0011421 | Death in adolescence |
| HP:0011463 | Childhood onset |
| HP:0011675 | Arrhythmia |
| HP:0012043 | Pendular nystagmus |
| HP:0012368 | Flat face |
| HP:0012385 | Camptodactyly |
| HP:0012736 | Profound global developmental delay |
| HP:0025116 | Fetal distress |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
| HP:0030048 | Colpocephaly |
| HP:0030148 | Heart murmur |
| HP:0030948 | Elevated gamma-glutamyltransferase level |
| HP:0031358 | Vegetative state |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0033643 | Increased circulating very long-chain fatty acid concentration |
| HP:0100022 | Abnormality of movement |
| HP:0100540 | Palpebral edema |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | glandular cells | Low | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | Low | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 2 | epidermal cells | Low | Approved |
| small intestine | glandular cells | Low | Approved |
| soft tissue 1 | chondrocytes | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Low | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| peroxisome biogenesis disorder 5a (zellweger) | MONDO:0013932 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614866 | |
| peroxisome biogenesis disorder 5a (zellweger) | MONDO:0013932 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614866 | |
| peroxisome biogenesis disorder 5b | MONDO:0013933 | E71 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:614867 | |
| peroxisome biogenesis disorder 5b | MONDO:0013933 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614867 |