Entity Details

Primary name CE120_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N960
EntryNameCE120_HUMAN
FullNameCentrosomal protein of 120 kDa
TaxID9606
Evidenceevidence at protein level
Length986
SequenceStatuscomplete
DateCreated2008-09-02
DateModified2021-06-02

Ontological Relatives

GenesCEP120

GO terms

Show/Hide Table
GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0007098 centrosome cycle
GO:0008022 protein C-terminus binding
GO:0010825 positive regulation of centrosome duplication
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0022027 interkinetic nuclear migration
GO:0030953 astral microtubule organization
GO:0045724 positive regulation of cilium assembly
GO:1903724 positive regulation of centriole elongation
GO:1904951 positive regulation of establishment of protein localization

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR022136 Domain of unknown function DUF3668DomainDomain
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR039893 Centrosomal protein of 120kDa-likeFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
616300 OMIMShort-rib thoracic dysplasia 13 with or without polydactyly (SRTD13)A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. The disease is caused by variants affecting the gene represented in this entry.
617761 OMIMJoubert syndrome 31 (JBTS31)A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS31 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions