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CENPJ (centromere protein J)

Identity

Alias (NCBI)BM032
CENP-J
CPAP
LAP
LIP1
MCPH6
SASS4
SCKL4
Sas-4
HGNC (Hugo) CENPJ
HGNC Alias symbCPAP
BM032
LAP
LIP1
Sas-4
SASS4
SCKL4
HGNC Alias namecentrosomal P4.1-associated protein
 Seckel syndrome 4
 Spindle assembly abnormal 4
 LAG-3-associated protein
HGNC Previous nameMCPH6
HGNC Previous namemicrocephaly, primary autosomal recessive 6
LocusID (NCBI) 55835
Atlas_Id 40058
Location 13q12.12  [Link to chromosome band 13q12]
Location_base_pair Starts at 24882279 and ends at 24922861 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CENPJ (13q12.12) / PAN3 (13q12.2)PAN3 (13q12.2) / CENPJ (13q12.12)

Note

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

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CENPJ   17272
Cards
Entrez_Gene (NCBI)CENPJ    centromere protein J
AliasesBM032; CENP-J; CPAP; LAP; 
LIP1; MCPH6; SASS4; SCKL4; Sas-4
GeneCards (Weizmann)CENPJ
Ensembl hg19 (Hinxton)ENSG00000151849 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151849 [Gene_View]  ENSG00000151849 [Sequence]  chr13:24882279-24922861 [Contig_View]  CENPJ [Vega]
ICGC DataPortalENSG00000151849
TCGA cBioPortalCENPJ
AceView (NCBI)CENPJ
Genatlas (Paris)CENPJ
SOURCE (Princeton)CENPJ
Genetics Home Reference (NIH)CENPJ
Genomic and cartography
GoldenPath hg38 (UCSC)CENPJ  -     chr13:24882279-24922861 -  13q12.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CENPJ  -     13q12.12   [Description]    (hg19-Feb_2009)
GoldenPathCENPJ - 13q12.12 [CytoView hg19]  CENPJ - 13q12.12 [CytoView hg38]
ImmunoBaseENSG00000151849
Genome Data Viewer NCBICENPJ [Mapview hg19]  
OMIM608393   609279   613676   
Gene and transcription
Genbank (Entrez)AF139625 AF141337 AF141343 AF217509 AJ303006
RefSeq transcript (Entrez)NM_018451
Consensus coding sequences : CCDS (NCBI)CENPJ
Gene ExpressionCENPJ [ NCBI-GEO ]   CENPJ [ EBI - ARRAY_EXPRESS ]   CENPJ [ SEEK ]   CENPJ [ MEM ]
Gene Expression Viewer (FireBrowse)CENPJ [ Firebrowse - Broad ]
GenevisibleExpression of CENPJ in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55835
GTEX Portal (Tissue expression)CENPJ
Human Protein AtlasENSG00000151849-CENPJ [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HC77   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HC77  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HC77
PhosPhoSitePlusQ9HC77
Domains : Interpro (EBI)CENP-J    Tcp10_C_dom    TCP10_fam   
Domain families : Pfam (Sanger)Tcp10_C (PF07202)   
Domain families : Pfam (NCBI)pfam07202   
Conserved Domain (NCBI)CENPJ
PDB (RSDB)5EIB    5ITZ   
PDB Europe5EIB    5ITZ   
PDB (PDBSum)5EIB    5ITZ   
PDB (IMB)5EIB    5ITZ   
Structural Biology KnowledgeBase5EIB    5ITZ   
SCOP (Structural Classification of Proteins)5EIB    5ITZ   
CATH (Classification of proteins structures)5EIB    5ITZ   
SuperfamilyQ9HC77
AlphaFold pdb e-kbQ9HC77   
Human Protein Atlas [tissue]ENSG00000151849-CENPJ [tissue]
HPRD09876
Protein Interaction databases
DIP (DOE-UCLA)Q9HC77
IntAct (EBI)Q9HC77
BioGRIDCENPJ
STRING (EMBL)CENPJ
ZODIACCENPJ
Ontologies - Pathways
QuickGOQ9HC77
Ontology : AmiGOG2/M transition of mitotic cell cycle  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  centrosome  centrosome  centriole  centriole  cytosol  microtubule  plasma membrane  microtubule nucleation  centriole replication  gamma-tubulin small complex  regulation of G2/M transition of mitotic cell cycle  tubulin binding  tubulin binding  protein kinase binding  protein domain specific binding  astral microtubule nucleation  identical protein binding  gamma-tubulin binding  positive regulation of transcription, DNA-templated  positive regulation of receptor signaling pathway via JAK-STAT  regulation of centriole replication  microtubule polymerization  cell division  cilium assembly  centriole elongation  centriole elongation  ciliary basal body-plasma membrane docking  positive regulation of centriole elongation  positive regulation of establishment of protein localization  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  centrosome  centrosome  centriole  centriole  cytosol  microtubule  plasma membrane  microtubule nucleation  centriole replication  gamma-tubulin small complex  regulation of G2/M transition of mitotic cell cycle  tubulin binding  tubulin binding  protein kinase binding  protein domain specific binding  astral microtubule nucleation  identical protein binding  gamma-tubulin binding  positive regulation of transcription, DNA-templated  positive regulation of receptor signaling pathway via JAK-STAT  regulation of centriole replication  microtubule polymerization  cell division  cilium assembly  centriole elongation  centriole elongation  ciliary basal body-plasma membrane docking  positive regulation of centriole elongation  positive regulation of establishment of protein localization  
NDEx NetworkCENPJ
Atlas of Cancer Signalling NetworkCENPJ
Wikipedia pathwaysCENPJ
Orthology - Evolution
OrthoDB55835
GeneTree (enSembl)ENSG00000151849
Phylogenetic Trees/Animal Genes : TreeFamCENPJ
Homologs : HomoloGeneCENPJ
Homology/Alignments : Family Browser (UCSC)CENPJ
Gene fusions - Rearrangements
Fusion Cancer (Beijing)CENPJ [13q12.12]  -  PAN3 [13q12.2]  [FUSC000139]
Fusion Cancer (Beijing)PAN3 [13q12.2]  -  CENPJ [13q12.12]  [FUSC000146]  [FUSC000146]
Fusion : QuiverCENPJ
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCENPJ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CENPJ
dbVarCENPJ
ClinVarCENPJ
MonarchCENPJ
1000_GenomesCENPJ 
Exome Variant ServerCENPJ
GNOMAD BrowserENSG00000151849
Varsome BrowserCENPJ
ACMGCENPJ variants
VarityQ9HC77
Genomic Variants (DGV)CENPJ [DGVbeta]
DECIPHERCENPJ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCENPJ 
Mutations
ICGC Data PortalCENPJ 
TCGA Data PortalCENPJ 
Broad Tumor PortalCENPJ
OASIS PortalCENPJ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCENPJ  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCENPJ
Mutations and Diseases : HGMDCENPJ
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCENPJ
DgiDB (Drug Gene Interaction Database)CENPJ
DoCM (Curated mutations)CENPJ
CIViC (Clinical Interpretations of Variants in Cancer)CENPJ
Cancer3DCENPJ
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608393    609279    613676   
Orphanet732    954   
DisGeNETCENPJ
MedgenCENPJ
Genetic Testing Registry CENPJ
NextProtQ9HC77 [Medical]
GENETestsCENPJ
Target ValidationCENPJ
Huge Navigator CENPJ [HugePedia]
ClinGenCENPJ
Clinical trials, drugs, therapy
MyCancerGenomeCENPJ
Protein Interactions : CTDCENPJ
Pharm GKB GenePA26403
PharosQ9HC77
Clinical trialCENPJ
Miscellaneous
canSAR (ICR)CENPJ
HarmonizomeCENPJ
DataMed IndexCENPJ
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCENPJ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:03:31 CEST 2021

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