Property Summary

NCBI Gene PubMed Count 17
PubMed Score 7.31
PubTator Score 7.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -2.039 6.1e-07
group 4 medulloblastoma 2.000 5.9e-06
medulloblastoma, large-cell 1.800 8.9e-05
primitive neuroectodermal tumor 1.100 9.0e-04
tuberculosis -1.100 1.3e-04
ovarian cancer -2.000 3.5e-09

Gene RIF (5)

PMID Text
25361962 We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease.
23857771 CEP120 is a CPAP-interacting protein that positively regulates centriole elongation.
23810536 CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP.
19584346 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
17920017 Functional characterization of the homologous mouse gene, and comparison to the human protein.

AA Sequence

MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEIDRKALHQHRL      1 - 70
QRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYTKFKSEIQISIALETDTKPPV     71 - 140
DSFKAKGAPPRDGKVPAILAGLDPRDIVAVLNEEGGYHQIGPAEYCTDSFIMSVTIAFATQLEQLIPCTM    141 - 210
KLPERQPEFFFYYSLLGNDVTNEPFNDLINPNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSL    211 - 280
GSTEIPLTGLLKKGSTEINQHPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIE    281 - 350
LKTQNEHEPEHSKKKVLTPIKEKTLTGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKAS    351 - 420
SSVPASLAQLVTTSNASEVASGQKIAVPATSHHFCFSIDLRSIHALEIGFPINCILRYSYPFFGSAAPIM    421 - 490
TNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTFLRIPLLVELWHKDKMSKDLLLGIARIQLSNILSSE    491 - 560
KTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTVTLEDYGLVKMREIFISDSSQGVSAVQQKPS    561 - 630
SLPPAPCPSEIQTEPRETLEYKAALELEMWKEMQEDIFENQLKQKELAHMQALAEEWKKRDRERESLVKK    631 - 700
KVAEYTILEGKLQKTLIDLEKREQQLASVESELQREKKELQSERQRNLQELQDSIRRAKEDCIHQVELER    701 - 770
LKIKQLEEDKHRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTLEKVELERKLESATKS    771 - 840
KLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQELLDIRNELNRL    841 - 910
RQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGVYNHEDRIISELDRQIREILA    911 - 980
KSNASN                                                                    981 - 986
//

Text Mined References (22)

PMID Year Title
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25361962 2015 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23857771 2013 CEP120 interacts with CPAP and positively regulates centriole elongation.
23810536 2013 CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20360068 2010 Systematic analysis of human protein complexes identifies chromosome segregation proteins.
19584346 2009 Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
19079260 2009 Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17920017 2007 Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.
17920006 2007 The ups and downs of neural progenitors: Cep120 and TACCs control interkinetic nuclear migration.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.