Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.3.16
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
protein-serine/threonine phosphatase
3.1.3.48
Hydrolases;
Acting on ester bonds;
Phosphoric-monoester hydrolases;
protein-tyrosine-phosphatase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0048856 | anatomical structure development |
| Biological Process | GO:0009653 | anatomical structure morphogenesis |
| Biological Process | GO:0035909 | aorta morphogenesis |
| Biological Process | GO:0001658 | branching involved in ureteric bud morphogenesis |
| Biological Process | GO:0030154 | cell differentiation |
| Biological Process | GO:0090103 | cochlea morphogenesis |
| Biological Process | GO:0006302 | double-strand break repair |
| Biological Process | GO:0048704 | embryonic skeletal system morphogenesis |
| Biological Process | GO:0050673 | epithelial cell proliferation |
| Biological Process | GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand |
| Biological Process | GO:0007501 | mesodermal cell fate specification |
| Biological Process | GO:0001656 | metanephros development |
| Biological Process | GO:0042474 | middle ear morphogenesis |
| Biological Process | GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| Biological Process | GO:0048665 | neuron fate specification |
| Biological Process | GO:0071600 | otic vesicle morphogenesis |
| Biological Process | GO:0042473 | outer ear morphogenesis |
| Biological Process | GO:0003151 | outflow tract morphogenesis |
| Biological Process | GO:0007389 | pattern specification process |
| Biological Process | GO:0060037 | pharyngeal system development |
| Biological Process | GO:0045739 | positive regulation of DNA repair |
| Biological Process | GO:0050679 | positive regulation of epithelial cell proliferation |
| Biological Process | GO:0072513 | positive regulation of secondary heart field cardioblast proliferation |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0006470 | protein dephosphorylation |
| Biological Process | GO:0016925 | protein sumoylation |
| Biological Process | GO:0045664 | regulation of neuron differentiation |
| Biological Process | GO:0010212 | response to ionizing radiation |
| Biological Process | GO:0048752 | semicircular canal morphogenesis |
| Biological Process | GO:0007605 | sensory perception of sound |
| Biological Process | GO:0014706 | striated muscle tissue development |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0140793 | histone H2AXY142 phosphatase activity |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0017018 | myosin phosphatase activity |
| Molecular Function | GO:0004725 | protein tyrosine phosphatase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0016604 | nuclear body |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0032993 | protein-DNA complex |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | Leaf | R-HSA-73894 | DNA Repair |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:12500905 |
| Nucleus | ECO:0000269 | PubMed:12500905 |
| Nucleus | ECO:0000269 | PubMed:19234442 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000083 | Renal insufficiency |
| HP:0000110 | Renal dysplasia |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000126 | Hydronephrosis |
| HP:0000175 | Cleft palate |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000275 | Narrow face |
| HP:0000276 | Long face |
| HP:0000278 | Retrognathia |
| HP:0000293 | Full cheeks |
| HP:0000324 | Facial asymmetry |
| HP:0000347 | Micrognathia |
| HP:0000356 | Abnormality of the outer ear |
| HP:0000359 | Abnormality of the inner ear |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000376 | Incomplete partition of the cochlea type II |
| HP:0000378 | Cupped ear |
| HP:0000384 | Preauricular skin tag |
| HP:0000400 | Macrotia |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000460 | Narrow nose |
| HP:0000463 | Anteverted nares |
| HP:0000472 | Long neck |
| HP:0000614 | Abnormal nasolacrimal system morphology |
| HP:0000632 | Lacrimation abnormality |
| HP:0000691 | Microdontia |
| HP:0000799 | Renal steatosis |
| HP:0000889 | Abnormal clavicle morphology |
| HP:0001249 | Intellectual disability |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001347 | Hyperreflexia |
| HP:0001374 | Congenital hip dislocation |
| HP:0002060 | Abnormal cerebral morphology |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002566 | Intestinal malrotation |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003691 | Scapular winging |
| HP:0003828 | Variable expressivity |
| HP:0003829 | Typified by incomplete penetrance |
| HP:0004322 | Short stature |
| HP:0004452 | Abnormality of the middle ear ossicles |
| HP:0004458 | Dilatated internal auditory canal |
| HP:0004467 | Preauricular pit |
| HP:0004712 | Renal malrotation |
| HP:0004742 | Abnormal renal collecting system morphology |
| HP:0005280 | Depressed nasal bridge |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0007678 | Lacrimal duct stenosis |
| HP:0007925 | Lacrimal duct aplasia |
| HP:0008551 | Microtia |
| HP:0008554 | Cochlear malformation |
| HP:0008572 | External ear malformation |
| HP:0008586 | Hypoplasia of the cochlea |
| HP:0008609 | Morphological abnormality of the middle ear |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0009738 | Abnormal antihelix morphology |
| HP:0009795 | Branchial fistula |
| HP:0009796 | Branchial cyst |
| HP:0009797 | Cholesteatoma |
| HP:0009798 | Euthyroid goiter |
| HP:0010628 | Facial palsy |
| HP:0011094 | Increased overbite |
| HP:0011342 | Mild global developmental delay |
| HP:0011387 | Enlarged vestibular aqueduct |
| HP:0011388 | Enlarged cochlear aqueduct |
| HP:0011481 | Abnormal lacrimal duct morphology |
| HP:0100267 | Lip pit |
| HP:0100274 | Gustatory lacrimation |
| HP:0200021 | Down-sloping shoulders |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| branchiootorenal syndrome 1 | MONDO:0007236 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:113650 | |
| branchiootic syndrome 1 | MONDO:0011258 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:602588 | |
| otofaciocervical syndrome 1 | MONDO:0024532 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:166780 |