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    CNTD1 cyclin N-terminal domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 124817, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CNTD1provided by HGNC
    Official Full Name
    cyclin N-terminal domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26847
    See related
    Ensembl:ENSG00000176563 MIM:618166; AllianceGenome:HGNC:26847
    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
    CNTD; COSA1
    Summary
    Predicted to be involved in reciprocal meiotic recombination and regulation of meiotic cell cycle. Predicted to act upstream of or within spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.0), duodenum (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CNTD1 in Genome Data Viewer
    Location:
    17q21.2-q21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42798785..42811587)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43655867..43668726)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40950879..40963605)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40932701-40933658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40934948-40936147 Neighboring gene WNK lysine deficient protein kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12225 Neighboring gene cytochrome c oxidase assembly factor 3 Neighboring gene beclin 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40969798-40970997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40975527-40976093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40976094-40976661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40976662-40977228 Neighboring gene microRNA 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12227 Neighboring gene proteasome activator subunit 3

    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. Mammalian CNTD1 is critical for meiotic crossover maturation and deselection of excess precrossover sites. Holloway JK, et al. J Cell Biol, 2014 Jun 9. PMID 24891606, Free PMC Article
    2. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. Jung JG, et al. PLoS Genet, 2014 Oct. PMID 25356737, Free PMC Article
    3. The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside. Sun X, et al. J Ginseng Res, 2022 Mar. PMID 35509820, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901

    See all (8) 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

    Clone Names

    • FLJ40137

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cyclin N-terminal 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_001330222.2 → NP_001317151.1  cyclin N-terminal domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016889, AK302094, AL833052, DC397820
      Consensus CDS
      CCDS82131.1
      UniProtKB/TrEMBL
      B4DXR6
      Related
      ENSP00000468725.1, ENST00000588527.5
      Conserved Domains (1) summary
      cl00050
      Location:27 → 95
      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 ...

    2. NM_173478.3 → NP_775749.2  cyclin N-terminal domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_775749.2

      Status: VALIDATED

      Source sequence(s)
      AK097456, AL833052, BC026187
      Consensus CDS
      CCDS11440.1
      UniProtKB/Swiss-Prot
      Q658Q6, Q8N815, Q8NEP1
      Related
      ENSP00000465204.1, ENST00000588408.6
      Conserved Domains (1) summary
      cl00050
      Location:53 → 178
      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 ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42798785..42811587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450569.2 → XP_024306337.1  cyclin N-terminal domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      cl00050
      Location:58 → 126
      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 ...

    2. XM_011524311.3 → XP_011522613.1  cyclin N-terminal domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011522613.1

      UniProtKB/TrEMBL
      B4DXR6
      Conserved Domains (1) summary
      cl00050
      Location:27 → 95
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43655867..43668726
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315022.1 → XP_054170997.1  cyclin N-terminal domain-containing protein 1 isoform X1

    2. XM_054315023.1 → XP_054170998.1  cyclin N-terminal domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DXR6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N815.2 GenPept UniProtKB/Swiss-Prot:Q8N815

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

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