Cdk2ap1 cyclin dependent kinase 2 associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cdk2ap1provided by MGI
Official Full Name: cyclin dependent kinase 2 associated protein 1provided by MGI
Primary source: MGI:MGI:1202069
See related: Ensembl:ENSMUSG00000029394 AllianceGenome:MGI:1202069
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: p12; Doc1; ST19; Apc10; DORC1; doc-1; Cdkap1
Summary: Predicted to enable DNA polymerase binding activity. Acts upstream of or within face morphogenesis and in utero embryonic development. Predicted to be located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm and nucleus. Is expressed in retina. Orthologous to human CDK2AP1 (cyclin dependent kinase 2 associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 155.0), CNS E14 (RPKM 126.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.53 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124483502..124492691, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124345439..124354628, complement)

Chromosome 5 - NC_000071.7 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 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?

A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development.
Title: A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development.
Cdk2ap1 expression is primarily regulated by progesterone and the progesterone receptor in uterus and is mainly localized to proliferating tissues.
Title: Progesterone is primary regulator of Cdk2ap1 gene expression and tissue-specific expression in the uterus.
Results indicate that DOC-1 is a bona fide subunit of the Mi-2/NuRD chromatin remodeling complex.
Title: CDK2AP1/DOC-1 is a bona fide subunit of the Mi-2/NuRD complex.
CDK2AP1-mediated differentiation of murine embryonic stem cell was elicited through the regulation of pRb.
Title: Cyclin-dependent kinase 2-associating protein 1 commits murine embryonic stem cell differentiation through retinoblastoma protein regulation.
Cdk2ap1, a negative regulator of Cdk2 function and cell cycle, promotes Oct4 promoter methylation during murine embryonic stem cell differentiation to down-regulate Oct4 expression.
Title: Cdk2ap1 is required for epigenetic silencing of Oct4 during murine embryonic stem cell differentiation.
Cdk2ap1 plays an essential role in the early stage of embryogenesis and has a potential role during craniofacial morphogenesis.
Title: Targeted inactivation of p12, CDK2 associating protein 1, leads to early embryonic lethality.
(CDK2-AP1) is a potential gene therapeutic agent for oral/head and neck cancer in conjunction with DNA-damaging agents such as cisplatin.
Title: p12(CDK2-AP1) mediates DNA damage responses induced by cisplatin.
Results suggest that overexpression of CDK2-associating protein 1 (p12CDK2AP1) leads to testicular and ovarian abnormalities, a phenotype closely related to that of cdk2-/- mice.
Title: Expression of cell-cycle regulator CDK2-associating protein 1 (p12CDK2AP1) in transgenic mice induces testicular and ovarian atrophy in vivo.
p12CDK2-AP1 forms nuclear homodimers in contact inhibited normal diploid cells and dimerization of p12 is a necessary process for the growth inhibition effect by p12
Title: Mutation of Cys105 inhibits dimerization of p12CDK2-AP1 and its growth suppressor effect.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235319

AI849128 (e-PCR)
- UniSTS:179261

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA polymerase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of NuRD complex	ISO Inferred from Sequence Orthology more info
part_of chromatin	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cyclin-dependent kinase 2-associated protein 1

Names: CDK2 (cyclin-dependent kinase 2)-associated protein 1; CDK2-associated protein 1; deleted in oral cancer 1; putative oral cancer suppressor

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.