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cyclin-dependent kinase 2-associated protein 1 isoform 1 [Homo sapiens]

115 aa protein.

Chromosome:12.Map:12q24.31.

Accession:NP_004633.1GI:4758188

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

Gene ID: 8099, updated on 4-May-2015
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; HPRD:03726; MIM:602198; Vega:OTTHUMG00000168854
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]
Orthologs
See CDK2AP1 in MapViewer
Location:
12q24.31
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 M-phase phosphoprotein 9 Neighboring gene chromosome 12 open reading frame 65 Neighboring gene uncharacterized LOC105370040 Neighboring gene RNA, 5S ribosomal pseudogene 375 Neighboring gene strawberry notch homolog 1 (Drosophila) Neighboring gene serine/arginine repetitive matrix protein 3-like Neighboring gene microRNA 8072

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cyclin-dependent kinase 2-associated protein 1
Names
cyclin-dependent kinase 2-associated protein 1
CDK2-associated protein 1
Deleted in oral cancer-1
deleted in oral cancer 1
putative oral cancer suppressor

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, OTTHUMP00000239637, ENST00000538446, OTTHUMT00000401388
    Conserved Domains (1) summary
    pfam09806
    Location:187
    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, ENST00000618072
    Conserved Domains (1) summary
    pfam09806
    Location:187
    CDK2AP; Cyclin-dependent kinase 2-associated protein
  3. NM_004642.3NP_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, OTTHUMP00000239636, ENST00000261692, OTTHUMT00000401387
    Conserved Domains (1) summary
    pfam09806
    Location:18115
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    123713797..123725124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)