CENPJ (centromere protein J)

2003-05-01 Affiliation

Identity

HGNC

CENPJ

LOCATION

13q12.12

LOCUSID

55835

ALIAS

BM032,CENP-J,CPAP,LAP,LIP1,MCPH6,SASS4,SCKL4,Sas-4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000151849	ENST00000381884	Q9HC77
ENSG00000151849	ENST00000418179	H0Y5L8
ENSG00000151849	ENST00000545981	F6VUX8
ENSG00000151849	ENST00000616936	Q9HC77

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
AURKA Activation by TPX2	REACTOME	R-HSA-8854518
TP53 Regulates Transcription of Cell Cycle Genes	REACTOME	R-HSA-6791312
TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain	REACTOME	R-HSA-6804115

References

Pubmed ID	Year	Title	Citations
15793586	2005	A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.	207
19481458	2009	Control of centriole length by CPAP and CP110.	151
19503075	2009	CPAP is a cell-cycle regulated protein that controls centriole length.	122
21059844	2010	Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome.	119
19481460	2009	Overly long centrioles and defective cell division upon excess of the SAS-4-related protein CPAP.	113
23511974	2013	Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly.	69
23810536	2013	CEP120 and SPICE1 cooperate with CPAP in centriole elongation.	63
20522431	2010	Novel CENPJ mutation causes Seckel syndrome.	60
20080800	2010	Sex-dependent association of common variants of microcephaly genes with brain structure.	49
24052813	2013	Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly.	48

Citation

Dessen P

CENPJ (centromere protein J)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40058/cenpj-(centromere-protein-j)