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Aliases for CENPJ Gene

Aliases for CENPJ Gene

  • Centromere Protein J 2 3
  • Centrosomal P4.1-Associated Protein 2 3 4
  • CPAP 3 4 6
  • LYST-Interacting Protein 1 3 4
  • LAG-3-Associated Protein 3 4
  • CENP-J 3 4
  • SCKL4 3 6
  • MCPH6 3 6
  • LIP1 3 4
  • LAP 3 4
  • Microcephaly, Primary Autosomal Recessive 6 2
  • LYST-Interacting Protein LIP1 3
  • LYST-Interacting Protein LIP7 3
  • BM032 3
  • SASS4 3
  • Sas-4 3

External Ids for CENPJ Gene

Previous HGNC Symbols for CENPJ Gene

  • MCPH6

Previous GeneCards Identifiers for CENPJ Gene

  • GC13M023437
  • GC13M019437
  • GC13M024387
  • GC13M023255
  • GC13M024355
  • GC13M025456
  • GC13M006269

Summaries for CENPJ Gene

Entrez Gene Summary for CENPJ Gene

  • This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for CENPJ Gene

CENPJ (Centromere Protein J) is a Protein Coding gene. Diseases associated with CENPJ include microcephaly 6, primary, autosomal recessive and seckel syndrome 4. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein kinase binding and tubulin binding.

UniProtKB/Swiss-Prot for CENPJ Gene

  • Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome.

Gene Wiki entry for CENPJ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CENPJ Gene

Genomics for CENPJ Gene

Regulatory Elements for CENPJ Gene

Genomic Location for CENPJ Gene

Start:
24,882,274 bp from pter
End:
24,922,889 bp from pter
Size:
40,616 bases
Orientation:
Minus strand

Genomic View for CENPJ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CENPJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CENPJ Gene

Proteins for CENPJ Gene

  • Protein details for CENPJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC77-CENPJ_HUMAN
    Recommended name:
    Centromere protein J
    Protein Accession:
    Q9HC77
    Secondary Accessions:
    • Q2KHM6
    • Q5JPD5
    • Q5T6R5
    • Q96KS5
    • Q9C067

    Protein attributes for CENPJ Gene

    Size:
    1338 amino acids
    Molecular mass:
    153000 Da
    Quaternary structure:
    • Part of a ternary complex composed of SASS6, CENPJ and CEP350. Associated with the gamma-tubulin complex. Interacts with the head domain of EPB41. Interacts with LYST. Interacts with CEP152 (via C-terminus).
    SequenceCaution:
    • Sequence=AAH24209.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CENPJ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CENPJ Gene

Proteomics data for CENPJ Gene at MOPED

Post-translational modifications for CENPJ Gene

  • Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CENPJ Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CENPJ Gene

Domains for CENPJ Gene

Protein Domains for CENPJ Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CENPJ Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC77

UniProtKB/Swiss-Prot:

CENPJ_HUMAN :
  • Q9HC77
Family:
  • Belongs to the TCP10 family.
genes like me logo Genes that share domains with CENPJ: view

No data available for Gene Families for CENPJ Gene

Function for CENPJ Gene

Molecular function for CENPJ Gene

UniProtKB/Swiss-Prot Function: Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome.

Gene Ontology (GO) - Molecular Function for CENPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11003675
GO:0015631 tubulin binding IDA 15047868
GO:0019901 protein kinase binding IPI 20531387
GO:0019904 protein domain specific binding IPI 11984006
genes like me logo Genes that share ontologies with CENPJ: view
genes like me logo Genes that share phenotypes with CENPJ: view

Animal Models for CENPJ Gene

MGI Knock Outs for CENPJ:

miRNA for CENPJ Gene

miRTarBase miRNAs that target CENPJ

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CENPJ Gene

Localization for CENPJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for CENPJ Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localized within the center of microtubule asters. During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CENPJ Gene COMPARTMENTS Subcellular localization image for CENPJ gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for CENPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 17681131
GO:0005829 cytosol TAS --
GO:0005874 microtubule IEA --
GO:0008275 gamma-tubulin small complex NAS 11003675
genes like me logo Genes that share ontologies with CENPJ: view

Pathways for CENPJ Gene

genes like me logo Genes that share pathways with CENPJ: view

Gene Ontology (GO) - Biological Process for CENPJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006996 organelle organization TAS --
GO:0007020 microtubule nucleation TAS 11003675
GO:0007099 centriole replication IMP 17681131
genes like me logo Genes that share ontologies with CENPJ: view

Transcripts for CENPJ Gene

Unigene Clusters for CENPJ Gene

Centromere protein J:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CENPJ Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -

Relevant External Links for CENPJ Gene

GeneLoc Exon Structure for
CENPJ
ECgene alternative splicing isoforms for
CENPJ

Expression for CENPJ Gene

mRNA expression in normal human tissues for CENPJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CENPJ Gene

SOURCE GeneReport for Unigene cluster for CENPJ Gene Hs.741581

genes like me logo Genes that share expressions with CENPJ: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CENPJ Gene

Orthologs for CENPJ Gene

This gene was present in the common ancestor of animals.

Orthologs for CENPJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CENPJ 35
  • 99.53 (n)
  • 98.88 (a)
CENPJ 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CENPJ 35
  • 82.37 (n)
  • 73.97 (a)
CENPJ 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CENPJ 35
  • 85.8 (n)
  • 79.75 (a)
CENPJ 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cenpj 35
  • 79.84 (n)
  • 74.75 (a)
Cenpj 16
Cenpj 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CENPJ 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CENPJ 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cenpj 35
  • 78.75 (n)
  • 72.97 (a)
chicken
(Gallus gallus)
Aves CENPJ 35
  • 61.99 (n)
  • 53.05 (a)
CENPJ 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CENPJ 36
  • 41 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13927 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491003 35
  • 55.46 (n)
  • 47.36 (a)
Str.1652 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10651 35
zebrafish
(Danio rerio)
Actinopterygii cenpj 35
  • 54.53 (n)
  • 48.48 (a)
cenpj 36
  • 34 (a)
OneToOne
wufi46g11 35
fruit fly
(Drosophila melanogaster)
Insecta Sas-4 36
  • 21 (a)
OneToOne
CG10061 37
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for CENPJ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CENPJ Gene

ENSEMBL:
Gene Tree for CENPJ (if available)
TreeFam:
Gene Tree for CENPJ (if available)

Paralogs for CENPJ Gene

Selected SIMAP similar genes for CENPJ Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CENPJ Gene

genes like me logo Genes that share paralogs with CENPJ: view

No data available for Paralogs for CENPJ Gene

Variants for CENPJ Gene

Sequence variations from dbSNP and Humsavar for CENPJ Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs735372 -- 24,890,500(+) CTAAA(A/G)TATGC intron-variant
rs751771 -- 24,893,772(+) AATGG(C/T)AAAAT intron-variant
rs1029112 -- 24,916,205(+) TGCTA(C/T)AGTCA intron-variant
rs1029113 -- 24,916,255(+) aATAA(C/G)ATCTC intron-variant
rs1029114 -- 24,916,298(+) TCAAT(A/G)TAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CENPJ Gene

Variant ID Type Subtype PubMed ID
nsv899941 CNV Gain 21882294
esv2747155 CNV Deletion 23290073

Relevant External Links for CENPJ Gene

HapMap Linkage Disequilibrium report
CENPJ
Human Gene Mutation Database (HGMD)
CENPJ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CENPJ Gene

Disorders for CENPJ Gene

(2) OMIM Diseases for CENPJ Gene (609279)

UniProtKB/Swiss-Prot

CENPJ_HUMAN
  • Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seckel syndrome 4 (SCKL4) [MIM:613676]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:20522431}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CENPJ Gene

(2) Novoseek inferred disease relationships for CENPJ Gene

Disease -log(P) Hits PubMed IDs
microcephaly, primary 94.6 2
microcephaly 57.3 2

Relevant External Links for CENPJ

GeneTests
CENPJ
GeneReviews
CENPJ
Genetic Association Database (GAD)
CENPJ
Human Genome Epidemiology (HuGE) Navigator
CENPJ
genes like me logo Genes that share disorders with CENPJ: view

Publications for CENPJ Gene

  1. Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex. (PMID: 11003675) Hung L.-Y. … Tang T.K. (Mol. Cell. Biol. 2000) 2 3 4 23
  2. Plk4-induced centriole biogenesis in human cells. (PMID: 17681131) Kleylein-Sohn J. … Nigg E.A. (Dev. Cell 2007) 3 4 23
  3. Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly. (PMID: 15047868) Hung L.-Y. … Tang T.K. (Mol. Biol. Cell 2004) 3 4 23
  4. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PMID: 15793586) Bond J. … Woods C.G. (Nat. Genet. 2005) 3 4 23
  5. The PN2-3 domain of centrosomal P4.1-associated protein implements a novel mechanism for tubulin sequestration. (PMID: 19131341) Cormier A. … Curmi P.A. (J. Biol. Chem. 2009) 3 23

Products for CENPJ Gene

Sources for CENPJ Gene

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