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CDK2AP1 cyclin dependent kinase 2 associated protein 1 [ Homo sapiens (human) ]

Gene ID: 8099, updated on 13-Feb-2019

Summary

Official Symbol
CDK2AP1provided by HGNC
Official Full Name
cyclin dependent kinase 2 associated protein 1provided by HGNC
Primary source
HGNC:HGNC:14002
See related
Ensembl:ENSG00000111328 MIM:602198
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOC1; ST19; DORC1; doc-1; p12DOC-1
Summary
The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in brain (RPKM 57.9), endometrium (RPKM 35.8) and 25 other tissues See more
Orthologs

Genomic context

See CDK2AP1 in Genome Data Viewer
Location:
12q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123260970..123272316, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123745517..123756863, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene PITPNM2 antisense RNA 1 Neighboring gene M-phase phosphoprotein 9 Neighboring gene chromosome 12 open reading frame 65 Neighboring gene RNA, 5S ribosomal pseudogene 375 Neighboring gene strawberry notch homolog 1 Neighboring gene uncharacterized LOC112268105 Neighboring gene microRNA 8072

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA polymerase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA-dependent DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase 2-associated protein 1
Names
CDK2-associated protein 1
Deleted in oral cancer-1
deleted in oral cancer 1
putative oral cancer suppressor

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001270433.1NP_001257362.1  cyclin-dependent kinase 2-associated protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001257362.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region and represents the use of an alternate promoter, compared to variant 1. This difference results in the use of an in-frame downstream start codon and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
    Source sequence(s)
    AA477326, AF006484, BP290637
    Consensus CDS
    CCDS58289.1
    UniProtKB/Swiss-Prot
    O14519
    Related
    ENSP00000442502.1, ENST00000538446.5
    Conserved Domains (1) summary
    pfam09806
    Location:3486
    CDK2AP; Cyclin-dependent kinase 2-associated protein
  2. NM_001270434.1NP_001257363.1  cyclin-dependent kinase 2-associated protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001257363.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region and represents the use of an alternate promoter, compared to variant 1. This difference results in the use of an in-frame downstream start codon and a protein (isoform 2) with a shorter N-terminus, compared to isoform 1. Variants 2 and 3 encode the same protein (isoform 2).
    Source sequence(s)
    AA295789, AA477326, AF006484, N41298
    Consensus CDS
    CCDS58289.1
    UniProtKB/Swiss-Prot
    O14519
    Related
    ENSP00000479982.1, ENST00000618072.4
    Conserved Domains (1) summary
    pfam09806
    Location:3486
    CDK2AP; Cyclin-dependent kinase 2-associated protein
  3. NM_004642.4NP_004633.1  cyclin-dependent kinase 2-associated protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004633.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AA477326, AF006484
    Consensus CDS
    CCDS9245.1
    UniProtKB/Swiss-Prot
    O14519
    Related
    ENSP00000261692.2, ENST00000261692.6
    Conserved Domains (1) summary
    pfam09806
    Location:62114
    CDK2AP; Cyclin-dependent kinase 2-associated protein

RNA

  1. NR_073007.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA477326, AF006484, DR759851
  2. NR_073008.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA477326, AC068768, AF006484, CB964037

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    123260970..123272316 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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