Cenpj centromere protein J [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cenpjprovided by MGI
Official Full Name: centromere protein Jprovided by MGI
Primary source: MGI:MGI:2684927
See related: Ensembl:ENSMUSG00000064128 AllianceGenome:MGI:2684927
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LAP; CPAP; Gm81; LIP1; Sas4; 4932437H03Rik
Summary: Predicted to enable several functions, including gamma-tubulin binding activity; identical protein binding activity; and transcription coactivator activity. Acts upstream of or within organelle assembly; positive regulation of non-motile cilium assembly; and smoothened signaling pathway. Located in centriole and ciliary basal body. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and vibrissa. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 4; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 6. Orthologous to human CENPJ (centromere protein J). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 4.6), CNS E14 (RPKM 2.2) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 28.28 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (56764218..56812950, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (56526761..56575489, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microcephaly gene Cenpj regulates axonal growth in cortical neurons through microtubule destabilization.
Title: Microcephaly gene Cenpj regulates axonal growth in cortical neurons through microtubule destabilization.
Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly.
Title: Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly.
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
Title: The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.
Cenpj rgulates clia dsassembly and nurogenesis in the developing mouse cortex. Results illustrate that Cenpj regulates cilia disassembly and neurogenesis through Kif2a, indicating that primary cilia dynamics play a crucial role in NPC mitosis and adult neurogenesis.
Title: Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.
Data suggest that alcohol/ethanol exposure diminishes pool of proliferative neurons (Neuro2a cell line) through disordering of spindle orientation and promotion of asymmetric cell division; these neuronal abnormalities appear to be due to reduced Cenpj protein expression level.
Title: Alcohol inhibits the proliferation of Neuro2a cells via promoting the asymmetric cell division through down-regulation of the expression of centrosome protein-J.
CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1.
Title: Cenpj/CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1.
Sas4-/- mutants lack primary cilia and therefore cannot respond to Hedgehog signals, but other developmental signaling pathways are normal in the mutants.
Title: Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo.
we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.
Title: Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Dcr3 (e-PCR), detects polymorphism
- UniSTS:507500

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within astral microtubule nucleation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within centriole assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centriole elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in centriole elongation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within centriole replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centriole replication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of centriole elongation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of centriole replication	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of establishment of protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of spindle assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of centriole replication	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic spindle organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
part_of procentriole replication complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: centromere protein J

Names: CENP-J

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001014996.3 → NP_001014996.2 centromere protein J isoform 1

See identical proteins and their annotated locations for NP_001014996.2

Status: VALIDATED

Source sequence(s)

AC154837

Consensus CDS

CCDS27150.1

UniProtKB/Swiss-Prot

E9QLP3, Q569L8

Related

ENSMUSP00000065949.8, ENSMUST00000065302.8

Conserved Domains (2) summary

TIGR02169
Location:905 → 1060

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam07202
Location:1158 → 1186

Tcp10_C; T-complex protein 10 C-terminus
NM_001403533.1 → NP_001390462.1 centromere protein J isoform 2

Status: VALIDATED

Source sequence(s)

AC154837
NM_001403534.1 → NP_001390463.1 centromere protein J isoform 2

Status: VALIDATED

Source sequence(s)

AC154837

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

56764218..56812950 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518849.4 → XP_006518912.1 centromere protein J isoform X1

See identical proteins and their annotated locations for XP_006518912.1

Conserved Domains (4) summary

TIGR02168
Location:875 → 1039

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam07202
Location:1160 → 1335

Tcp10_C; T-complex protein 10 C-terminus

pfam07426
Location:121 → 183

Dynactin_p22; Dynactin subunit p22

pfam11819
Location:303 → 390

DUF3338; Domain of unknown function (DUF3338)