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

Gene ID: 124817, updated on 5-Mar-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. Predicted to act upstream of or within spermatogenesis. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 15.0), duodenum (RPKM 8.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.2-q21.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42798785..42811587)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43655867..43668726)
105.20220307 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
  • 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_2023_10

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

Gene LinkOut

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