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 0.000
group 4 medulloblastoma 2.000 0.000
medulloblastoma, large-cell 1.800 0.000
primitive neuroectodermal tumor 1.100 0.001
tuberculosis -1.100 0.000
ovarian cancer -2.000 0.000

Synonym

Accession Q8N960 Q6AI52 Q6AW89 Q8IWB5 Q8N9Y0 Q8NDE8 Cep120
Symbols SRTD13
CCDC100

Gene

PDB

4ICW   4ICX  

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.
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