• Gene id: 153241

Gene Summary

• Gene Symbol: CEP120   Gene   UCSC   Ensembl
• Aliases: CCDC100, JBTS31, SRTD13
• Gene name: centrosomal protein 120
• Alternate names: centrosomal protein of 120 kDa, centrosomal protein 120kDa, coiled-coil domain-containing protein 100,
• Gene location: 5q23.2 (19479192: 19449910)     Exons: 12     NC_000022.11
• Gene summary(Entrez): This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in ne
• OMIM: 613446

Protein Summary

• Protein general information: Q8N960  
  • Name: Centrosomal protein of 120 kDa (Cep120) (Coiled coil domain containing protein 100)
  • Length: 986  
  • Mass: 112640
• Sequence:

  MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEIDRKALHQHRLQRTPI
  KLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYTKFKSEIQISIALETDTKPPVDSFKAKGAPP
  RDGKVPAILAGLDPRDIVAVLNEEGGYHQIGPAEYCTDSFIMSVTIAFATQLEQLIPCTMKLPERQPEFFFYYSL
  LGNDVTNEPFNDLINPNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSLGSTEIPLTGLLKKGSTEINQ
  HPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIELKTQNEHEPEHSKKKVLTPIKEKTL
  TGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKASSSVPASLAQLVTTSNASEVASGQKIAVPAT
  SHHFCFSIDLRSIHALEIGFPINCILRYSYPFFGSAAPIMTNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTF
  LRIPLLVELWHKDKMSKDLLLGIARIQLSNILSSEKTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTV
  TLEDYGLVKMREIFISDSSQGVSAVQQKPSSLPPAPCPSEIQTEPRETLEYKAALELEMWKEMQEDIFENQLKQK
  ELAHMQALAEEWKKRDRERESLVKKKVAEYTILEGKLQKTLIDLEKREQQLASVESELQREKKELQSERQRNLQE
  LQDSIRRAKEDCIHQVELERLKIKQLEEDKHRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTL
  EKVELERKLESATKSKLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQEL
  LDIRNELNRLRQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGVYNHEDRIISELDRQI
  REILAKSNASN

• Structural information:
  • Protein Domains: (1..11-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (433..56-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR039893  IPR022136  
  • Prosite: PS50004
  • PDB: 4ICW 4ICX 6FLJ 6FLK
  • PDBsum: 4ICW 4ICX 6FLJ 6FLK
  • STRING: ENSP00000303058
• Other Databases: GeneCards:  CEP120  Malacards:  CEP120

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903724	positive regulation of centriole elongation	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0022027	interkinetic nuclear migration	IBA	biological process
GO:0007098	centrosome cycle	IBA	biological process
GO:0005814	centriole	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0045724	positive regulation of cilium assembly	ISS	biological process
GO:1903724	positive regulation of centriole elongation	IMP	biological process
GO:0005814	centriole	ISS	cellular component
GO:0007098	centrosome cycle	ISS	biological process
GO:0010825	positive regulation of centrosome duplication	ISS	biological process
GO:1904951	positive regulation of establishment of protein localization	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032886	regulation of microtubule-based process	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0030953	astral microtubule organization	IEA	biological process
GO:0022027	interkinetic nuclear migration	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0010825	positive regulation of centrosome duplication	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007098	centrosome cycle	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0045724	positive regulation of cilium assembly	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Short-rib thoracic dysplasia	KEGG:H02157
Joubert syndrome	KEGG:H00530
Short-rib thoracic dysplasia	KEGG:H02157
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)