Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0060271 | cilium assembly |
| Biological Process | GO:0060287 | epithelial cilium movement involved in determination of left/right asymmetry |
| Molecular Function | GO:0043014 | alpha-tubulin binding |
| Molecular Function | GO:0043015 | gamma-tubulin binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0060090 | molecular adaptor activity |
| Cellular Component | GO:0034451 | centriolar satellite |
| Cellular Component | GO:0005814 | centriole |
| Cellular Component | GO:0005813 | centrosome |
| Cellular Component | GO:0036064 | ciliary basal body |
| Cellular Component | GO:0005929 | cilium |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0015630 | microtubule cytoskeleton |
| Cellular Component | GO:0031514 | motile cilium |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome | Internal node | R-HSA-1640170 | Cell Cycle |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes | Leaf | R-HSA-1640170 | Cell Cycle |
| R-HSA-5610787 | Hedgehog 'off' state | Internal node | R-HSA-162582 | Signal Transduction |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane | Leaf | R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-8854518 | AURKA Activation by TPX2 | Leaf | R-HSA-1640170 | Cell Cycle |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytoskeleton, cilium basal body | ECO:0000269 | PubMed:17761535 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite | ECO:0000269 | PubMed:24121310 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite | ECO:0000269 | PubMed:26643951 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole | ECO:0000269 | PubMed:12595504 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole | ECO:0000269 | PubMed:14654843 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole | ECO:0000269 | PubMed:20230748 |
| Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole | ECO:0000269 | PubMed:26643951 |
| Nucleus | ECO:0000269 | PubMed:17761535 |
| HPO ID
|
HPO name |
|---|---|
| HP:0004349 | Reduced bone mineral density |
| HP:0100582 | Nasal polyposis |
| HP:0001407 | Hepatic cysts |
| HP:0000180 | Lobulated tongue |
| HP:0100612 | Odontogenic neoplasm |
| HP:0100258 | Preaxial polydactyly |
| HP:0000276 | Long face |
| HP:0000958 | Dry skin |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0001719 | Double outlet right ventricle |
| HP:0000822 | Hypertension |
| HP:0032543 | Lithoptysis |
| HP:0002205 | Recurrent respiratory infections |
| HP:0001290 | Generalized hypotonia |
| HP:0011069 | Supernumerary tooth |
| HP:0006536 | Airway obstruction |
| HP:0002643 | Neonatal respiratory distress |
| HP:0001007 | Hirsutism |
| HP:0040019 | Finger clinodactyly |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000252 | Microcephaly |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0030825 | Absent foveal reflex |
| HP:0006349 | Agenesis of permanent teeth |
| HP:0000187 | Broad alveolar ridges |
| HP:0012471 | Thick vermilion border |
| HP:0001627 | Abnormal heart morphology |
| HP:0000365 | Hearing impairment |
| HP:0000403 | Recurrent otitis media |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001508 | Failure to thrive |
| HP:0002566 | Intestinal malrotation |
| HP:0001829 | Foot polydactyly |
| HP:0002553 | Highly arched eyebrow |
| HP:0002282 | Gray matter heterotopia |
| HP:0002719 | Recurrent infections |
| HP:0000190 | Abnormal oral frenulum morphology |
| HP:0025177 | Peribronchovascular interstitial thickening |
| HP:0001831 | Short toe |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0000453 | Choanal atresia |
| HP:0000842 | Hyperinsulinemia |
| HP:0002104 | Apnea |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000218 | High palate |
| HP:0025549 | Eccentric visual fixation |
| HP:0011109 | Chronic sinusitis |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0000618 | Blindness |
| HP:0008222 | Female infertility |
| HP:0001885 | Short 2nd toe |
| HP:0032016 | Abnormal sputum |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0002257 | Chronic rhinitis |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0001510 | Growth delay |
| HP:0011463 | Childhood onset |
| HP:0000613 | Photophobia |
| HP:0002536 | Abnormal cortical gyration |
| HP:0001596 | Alopecia |
| HP:0008070 | Sparse hair |
| HP:0000670 | Carious teeth |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0000389 | Chronic otitis media |
| HP:0001249 | Intellectual disability |
| HP:0007787 | Posterior subcapsular cataract |
| HP:0001737 | Pancreatic cysts |
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0003593 | Infantile onset |
| HP:0006145 | Central Y-shaped metacarpal |
| HP:0001177 | Preaxial hand polydactyly |
| HP:0001263 | Global developmental delay |
| HP:0001732 | Abnormality of the pancreas |
| HP:0000929 | Abnormal skull morphology |
| HP:0001217 | Clubbing |
| HP:0001156 | Brachydactyly |
| HP:0000369 | Low-set ears |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0025573 | Mild myopia |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0001250 | Seizure |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000164 | Abnormality of the dentition |
| HP:0010579 | Cone-shaped epiphysis |
| HP:0002878 | Respiratory failure |
| HP:0002110 | Bronchiectasis |
| HP:0000204 | Cleft upper lip |
| HP:0001748 | Polysplenia |
| HP:0001141 | Severely reduced visual acuity |
| HP:0000256 | Macrocephaly |
| HP:0000987 | Atypical scarring of skin |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000126 | Hydronephrosis |
| HP:0009084 | Midline notch of upper alveolar ridge |
| HP:0000501 | Glaucoma |
| HP:0100750 | Atelectasis |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0001347 | Hyperreflexia |
| HP:0000238 | Hydrocephalus |
| HP:0001395 | Hepatic fibrosis |
| HP:0000324 | Facial asymmetry |
| HP:0010296 | Ankyloglossia |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0000104 | Renal agenesis |
| HP:0001337 | Tremor |
| HP:0000563 | Keratoconus |
| HP:0100260 | Mesoaxial polydactyly |
| HP:0010297 | Bifid tongue |
| HP:0003577 | Congenital onset |
| HP:0001742 | Nasal congestion |
| HP:0011802 | Hamartoma of tongue |
| HP:0000505 | Visual impairment |
| HP:0002119 | Ventriculomegaly |
| HP:0000668 | Hypodontia |
| HP:0002350 | Cerebellar cyst |
| HP:0000426 | Prominent nasal bridge |
| HP:0006297 | Enamel hypoplasia |
| HP:0001513 | Obesity |
| HP:0000316 | Hypertelorism |
| HP:0004097 | Deviation of finger |
| HP:0008368 | Tarsal synostosis |
| HP:0010669 | Hypoplasia of the zygomatic bone |
| HP:0002059 | Cerebral atrophy |
| HP:0000750 | Delayed speech and language development |
| HP:0010864 | Intellectual disability, severe |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0000347 | Micrognathia |
| HP:0100259 | Postaxial polydactyly |
| HP:0002007 | Frontal bossing |
| HP:0100702 | Arachnoid cyst |
| HP:0007036 | Hypoplasia of olfactory tract |
| HP:0001288 | Gait disturbance |
| HP:0001252 | Hypotonia |
| HP:0000191 | Accessory oral frenulum |
| HP:0100267 | Lip pit |
| HP:0031245 | Productive cough |
| HP:0005978 | Type II diabetes mellitus |
| HP:0002187 | Intellectual disability, profound |
| HP:0009085 | Alveolar ridge overgrowth |
| HP:0001251 | Ataxia |
| HP:0006101 | Finger syndactyly |
| HP:0003621 | Juvenile onset |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0000551 | Color vision defect |
| HP:0010807 | Open bite |
| HP:0000463 | Anteverted nares |
| HP:0025576 | Abnormal inferior vena cava morphology |
| HP:0010442 | Polydactyly |
| HP:0004322 | Short stature |
| HP:0000286 | Epicanthus |
| HP:0000455 | Broad nasal tip |
| HP:0000431 | Wide nasal bridge |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0001332 | Dystonia |
| HP:0002002 | Deep philtrum |
| HP:0001746 | Asplenia |
| HP:0011304 | Broad thumb |
| HP:0000199 | Tongue nodules |
| HP:0007675 | Progressive night blindness |
| HP:0009381 | Short finger |
| HP:0003251 | Male infertility |
| HP:0001419 | X-linked recessive inheritance |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0002444 | Hypothalamic hamartoma |
| HP:0000023 | Inguinal hernia |
| HP:0001056 | Milia |
| HP:0001159 | Syndactyly |
| HP:0000135 | Hypogonadism |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0008736 | Hypoplasia of penis |
| HP:0000175 | Cleft palate |
| HP:0001669 | Transposition of the great arteries |
| HP:0000161 | Median cleft lip |
| HP:0002280 | Enlarged cisterna magna |
| HP:0012206 | Abnormal sperm motility |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0000602 | Ophthalmoplegia |
| HP:0002208 | Coarse hair |
| HP:0001423 | X-linked dominant inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002617 | Vascular dilatation |
| HP:0000565 | Esotropia |
| HP:0000506 | Telecanthus |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0002475 | Myelomeningocele |
| HP:0000268 | Dolichocephaly |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0000271 | Abnormality of the face |
| HP:0000083 | Renal insufficiency |
| HP:0000308 | Microretrognathia |
| HP:0008046 | Abnormal retinal vascular morphology |
| HP:0002876 | Episodic tachypnea |
| HP:0002299 | Brittle hair |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0004422 | Biparietal narrowing |
| HP:0030828 | Wheezing |
| HP:0000405 | Conductive hearing impairment |
| HP:0011359 | Dry hair |
| HP:0011539 | Atrial situs ambiguous |
| HP:0030084 | Clinodactyly |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0005301 | Persistent left superior vena cava |
| HP:0000035 | Abnormal testis morphology |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0009466 | Radial deviation of finger |
| HP:0000093 | Proteinuria |
| HP:0002132 | Porencephalic cyst |
| HP:0000648 | Optic atrophy |
| HP:0000512 | Abnormal electroretinogram |
| HP:0011947 | Respiratory tract infection |
| HP:0001161 | Hand polydactyly |
| HP:0000138 | Ovarian cyst |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0001696 | Situs inversus totalis |
| HP:0000510 | Rod-cone dystrophy |
| HP:0011617 | Pulmonary situs ambiguus |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Low | Approved |
| bronchus | ciliated cells (cell body) | Medium | Approved |
| bronchus | ciliated cells (cilia axoneme) | Medium | Approved |
| bronchus | ciliated cells (tip of cilia) | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | Low | Approved |
| cervix | squamous epithelial cells | Low | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | ciliated cells (tip of cilia) | High | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| nasopharynx | ciliated cells (cilia axoneme) | High | Approved |
| nasopharynx | ciliated cells (ciliary rootlets) | Medium | Approved |
| nasopharynx | ciliated cells (tip of cilia) | High | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Low | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Low | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 1 | melanocytes | Low | Approved |
| skin 2 | epidermal cells | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 2 | chondrocytes | High | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | Medium | Approved |
| spleen | cells in red pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| orofaciodigital syndrome type 6 | MONDO:0010176 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:277170 | Orphanet:2754 |
| simpson-golabi-behmel syndrome type 2 | MONDO:0010265 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:300209 | Orphanet:79022 |
| retinitis pigmentosa 23 | MONDO:0010320 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:300424 | |
| joubert syndrome 10 | MONDO:0010431 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:300804 | |
| orofaciodigital syndrome i | MONDO:0010702 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:311200 | Orphanet:2750 |
| primary ciliary dyskinesia | MONDO:0016575 | Q34 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:244400 | Orphanet:244 |