Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    CDK5RAP3 CDK5 regulatory subunit associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 80279, updated on 25-May-2017
    Official Symbol
    CDK5RAP3provided by HGNC
    Official Full Name
    CDK5 regulatory subunit associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:18673
    See related
    Ensembl:ENSG00000108465 MIM:608202; Vega:OTTHUMG00000178682
    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
    C53; IC53; LZAP; HSF-27; MST016; PP1553; OK/SW-cl.114
    Summary
    This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    17q21.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (47967904..47981786)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46047894..46059152)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pyridoxamine 5'-phosphate oxidase Neighboring gene proline rich 15 like Neighboring gene coatomer protein complex subunit zeta 2 Neighboring gene microRNA 152 Neighboring gene nuclear factor, erythroid 2 like 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
    NHGRI GWA Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MDM2/MDM4 family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NF-kappaB binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cyclin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mitogen-activated protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ubiquitin-like protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic nuclear changes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic G2 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic G2/M transition checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cellular protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein kinase activity by regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    protein ufmylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    CDK5 regulatory subunit-associated protein 3
    Names
    CDK5 regulatory subunit associated protein IC53-2
    LXXLL/leucine-zipper-containing ARF-binding protein
    LXXLL/leucine-zipper-containing ARFbinding protein
    ischemic heart CDK5 activator-binding protein C53

    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_001278197.1NP_001265126.1  CDK5 regulatory subunit-associated protein 3 isoform c

      See identical proteins and their annotated locations for NP_001265126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (c) with a longer N-terminus, compared to isoform e.
      Source sequence(s)
      AA427702, AK300643, DA410409, DA410477, DB515989
      Consensus CDS
      CCDS62232.1
      UniProtKB/Swiss-Prot
      Q96JB5
      Related
      ENSP00000438886.2, OTTHUMP00000259862, ENST00000536708.6, OTTHUMT00000442910
      Conserved Domains (1) summary
      pfam05600
      Location:30528
      DUF773; Protein of unknown function (DUF773)
    2. NM_001278198.1NP_001265127.1  CDK5 regulatory subunit-associated protein 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region and shorter 3' UTR. It encodes isoform d which has a distinct C-terminus, compared to isoform e.
      Source sequence(s)
      AA427702, AF217982, AK225274, DB075547, DB515989
      UniProtKB/Swiss-Prot
      Q96JB5
      Related
      ENSP00000464286.1, OTTHUMP00000259874, ENST00000583697.1, OTTHUMT00000442943
      Conserved Domains (1) summary
      pfam05600
      Location:1287
      DUF773; Protein of unknown function (DUF773)
    3. NM_001278216.1NP_001265145.1  CDK5 regulatory subunit-associated protein 3 isoform e

      See identical proteins and their annotated locations for NP_001265145.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform e.
      Source sequence(s)
      AA427702, AF217982, DB075547, DB515989
      UniProtKB/Swiss-Prot
      Q96JB5
      Conserved Domains (1) summary
      pfam05600
      Location:1278
      DUF773; Protein of unknown function (DUF773)
    4. NM_001278217.1NP_001265146.1  CDK5 regulatory subunit-associated protein 3 isoform f

      See identical proteins and their annotated locations for NP_001265146.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (f) with a longer N-terminus, compared to isoform e.
      Source sequence(s)
      AA427702, AF110322, AF217982, DB075547, DB515989
      UniProtKB/Swiss-Prot
      Q96JB5
      Conserved Domains (1) summary
      pfam05600
      Location:26416
      DUF773; Protein of unknown function (DUF773)
    5. NM_176096.2NP_788276.1  CDK5 regulatory subunit-associated protein 3 isoform b

      See identical proteins and their annotated locations for NP_788276.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (b) with a longer N-terminus, compared to isoform e.
      Source sequence(s)
      AA427702, AK023722, DB075547, DB515989
      Consensus CDS
      CCDS42356.1
      UniProtKB/Swiss-Prot
      Q96JB5
      Related
      ENSP00000344683.4, OTTHUMP00000259863, ENST00000338399.8, OTTHUMT00000442913
      Conserved Domains (1) summary
      pfam05600
      Location:5503
      DUF773; Protein of unknown function (DUF773)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      47967904..47981786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525297.1XP_011523599.1  CDK5 regulatory subunit-associated protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011523599.1

      UniProtKB/Swiss-Prot
      Q96JB5
      Conserved Domains (1) summary
      pfam05600
      Location:30528
      DUF773; Protein of unknown function (DUF773)
    2. XM_017025165.1XP_016880654.1  CDK5 regulatory subunit-associated protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q96JB5
      Conserved Domains (1) summary
      pfam05600
      Location:26416
      DUF773; Protein of unknown function (DUF773)
    3. XM_017025164.1XP_016880653.1  CDK5 regulatory subunit-associated protein 3 isoform X2

      UniProtKB/Swiss-Prot
      Q96JB5
      Conserved Domains (1) summary
      pfam05600
      Location:26416
      DUF773; Protein of unknown function (DUF773)
    4. XM_017025166.1XP_016880655.1  CDK5 regulatory subunit-associated protein 3 isoform X3

      Conserved Domains (1) summary
      pfam05600
      Location:1410
      DUF773; Protein of unknown function (DUF773)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      46112862..46124122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025197.2: Suppressed sequence

      Description
      NM_025197.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_176095.1: Suppressed sequence

      Description
      NM_176095.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Support Center