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    CNPPD1 cyclin Pas1/PHO80 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 27013, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CNPPD1provided by HGNC
    Official Full Name
    cyclin Pas1/PHO80 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25220
    See related
    Ensembl:ENSG00000115649 AllianceGenome:HGNC:25220
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGI-57; C2orf24
    Summary
    Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be involved in regulation of cyclin-dependent protein serine/threonine kinase activity. Predicted to be located in membrane. Predicted to be part of cyclin-dependent protein kinase holoenzyme complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 36.9), adrenal (RPKM 24.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNPPD1 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219171897..219178156, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219660322..219666583, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220036619..220042878, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene non-homologous end joining factor 1 Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12340 Neighboring gene solute carrier family 23 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17140 Neighboring gene Sharpr-MPRA regulatory region 9830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12343 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220042692-220043192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12346 Neighboring gene reticulophagy regulator family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220072463-220072962 Neighboring gene zinc finger AN1-type containing 2B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
    2. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    3. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    4. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    5. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cyclin-dependent protein serine/threonine kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein CNPPD1
    Names
    cyclin Pas1/PHO80 domain-containing protein 1

    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)

    1. NM_001321389.2 → NP_001308318.2  protein CNPPD1

      Status: VALIDATED

      Source sequence(s)
      AC068946
      Consensus CDS
      CCDS2433.1
      UniProtKB/Swiss-Prot
      B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0
      Related
      ENSP00000386277.1, ENST00000409789.5

    2. NM_001321390.2 → NP_001308319.2  protein CNPPD1

      Status: VALIDATED

      Source sequence(s)
      AC068946
      Consensus CDS
      CCDS2433.1
      UniProtKB/Swiss-Prot
      B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0
      UniProtKB/TrEMBL
      B3KQN8
      Conserved Domains (1) summary
      cl00050
      Location:85 → 174
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    3. NM_001321391.2 → NP_001308320.2  protein CNPPD1

      Status: VALIDATED

      Source sequence(s)
      AC068946
      Consensus CDS
      CCDS2433.1
      UniProtKB/Swiss-Prot
      B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0
      UniProtKB/TrEMBL
      B3KQN8
      Conserved Domains (1) summary
      cl00050
      Location:85 → 174
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    4. NM_015680.6 → NP_056495.4  protein CNPPD1

      Status: VALIDATED

      Source sequence(s)
      AC068946
      Consensus CDS
      CCDS2433.1
      UniProtKB/Swiss-Prot
      B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0
      UniProtKB/TrEMBL
      B3KQN8
      Related
      ENSP00000353698.5, ENST00000360507.10
      Conserved Domains (1) summary
      cl00050
      Location:85 → 174
      CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

    RNA

    1. NR_135628.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068946

    2. NR_135629.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068946

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219171897..219178156 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219660322..219666583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV87.2 GenPept UniProtKB/Swiss-Prot:Q9BV87

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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