Gene

CENPJ

Species
Homo sapiens
Symbol
CENPJ
Name
centromere protein J
Synonyms
  • BM032
  • CENP-J
Biotype
protein coding gene
Automated Description
Enables several functions, including gamma-tubulin binding activity; identical protein binding activity; and transcription coactivator activity. Involved in microtubule cytoskeleton organization; positive regulation of cell cycle process; and positive regulation of establishment of protein localization. Acts upstream of or within astral microtubule nucleation and positive regulation of receptor signaling pathway via JAK-STAT. Located in centriole; centrosome; and cytoplasm. Part of procentriole replication complex. Implicated in Seckel syndrome 4; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 6.
RGD Description
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 cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10331
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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      Transgenic construct
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CENPJ molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            CENPJ role
            CENPJ genetic perturbation
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