CENPJ (centromere protein J)

2003-05-01  

Identity

HGNC
LOCATION
13q12.12
LOCUSID
ALIAS
BM032,CENP-J,CPAP,LAP,LIP1,MCPH6,SASS4,SCKL4,Sas-4
FUSION GENES

Other Information

Locus ID:

NCBI: 55835
MIM: 609279
HGNC: 17272
Ensembl: ENSG00000151849

Variants:

dbSNP: 55835
ClinVar: 55835
TCGA: ENSG00000151849
COSMIC: CENPJ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151849ENST00000381884Q9HC77
ENSG00000151849ENST00000418179H0Y5L8
ENSG00000151849ENST00000545981F6VUX8
ENSG00000151849ENST00000616936Q9HC77

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518
TP53 Regulates Transcription of Cell Cycle GenesREACTOMER-HSA-6791312
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertainREACTOMER-HSA-6804115

References

Pubmed IDYearTitleCitations
378233372023Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.0
378233372023Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.0
352815992022Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.3
354043852022CPAP insufficiency leads to incomplete centrioles that duplicate but fragment.9
357382802022A genome-wide CRISPR-Cas9 screen identifies CENPJ as a host regulator of altered microtubule organization during Plasmodium liver infection.7
352815992022Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.3
354043852022CPAP insufficiency leads to incomplete centrioles that duplicate but fragment.9
357382802022A genome-wide CRISPR-Cas9 screen identifies CENPJ as a host regulator of altered microtubule organization during Plasmodium liver infection.7
341353762021Centrosomal P4.1-associated protein (CPAP) positively regulates endocytic vesicular transport and lysosome targeting of EGFR.0
341353762021Centrosomal P4.1-associated protein (CPAP) positively regulates endocytic vesicular transport and lysosome targeting of EGFR.0
315116512020CPAP promotes angiogenesis and metastasis by enhancing STAT3 activity.20
315116512020CPAP promotes angiogenesis and metastasis by enhancing STAT3 activity.20
297789122018Alcohol inhibits the proliferation of Neuro2a cells via promoting the asymmetric cell division through down-regulation of the expression of centrosome protein-J.3
297789122018Alcohol inhibits the proliferation of Neuro2a cells via promoting the asymmetric cell division through down-regulation of the expression of centrosome protein-J.3
269290112016CPAP promotes timely cilium disassembly to maintain neural progenitor pool.119

Citation

Dessen P

CENPJ (centromere protein J)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40058/cenpj