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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
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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

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