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    CCNL1 cyclin L1 [ Homo sapiens (human) ]

    Gene ID: 57018, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCNL1provided by HGNC
    Official Full Name
    cyclin L1provided by HGNC
    Primary source
    HGNC:HGNC:20569
    See related
    Ensembl:ENSG00000163660 MIM:613384; AllianceGenome:HGNC:20569
    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
    ANIA6A; BM-001; PRO1073; ania-6a
    Summary
    Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Involved in regulation of RNA splicing. Located in nucleus. Part of cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in bone marrow (RPKM 197.4), appendix (RPKM 28.6) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCNL1 in Genome Data Viewer
    Location:
    3q25.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (157143121..157160147, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (159917663..159934689, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (156860910..156877936, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20736 Neighboring gene long intergenic non-protein coding RNA 2029 Neighboring gene long intergenic non-protein coding RNA 880 Neighboring gene long intergenic non-protein coding RNA 881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20737 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:156845958-156847157 Neighboring gene Sharpr-MPRA regulatory region 13439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14845 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:156877851-156878580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20741 Neighboring gene uncharacterized LOC101928236 Neighboring gene keratin 18 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 146

    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. Amplicon mapping and transcriptional analysis pinpoint cyclin L as a candidate oncogene in head and neck cancer. Redon R, et al. Cancer Res, 2002 Nov 1. PMID 12414649
    2. The interplay of variants near LEKR and CCNL1 and social stress in relation to birth size. Ali Khan A, et al. PLoS One, 2012. PMID 22685556, Free PMC Article
    3. Amplification of Cyclin L1 is associated with lymph node metastases in head and neck squamous cell carcinoma (HNSCC). Sticht C, et al. Br J Cancer, 2005 Feb 28. PMID 15700036, Free PMC Article
    4. Cyclin L1 (CCNL1) gene alterations in human head and neck squamous cell carcinoma. Muller D, et al. Br J Cancer, 2006 Apr 10. PMID 16598186, Free PMC Article
    5. Amplification of CyclinL1 in uterine cervical carcinoma has prognostic implications. Mitra S, et al. Mol Carcinog, 2010 Nov. PMID 20721974

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SCF[FBXW7] regulates G2-M progression through control of CCNL1 ubiquitination.
      Title: SCF(FBXW7) regulates G2-M progression through control of CCNL1 ubiquitination.
    2. MiR-5195-3p functions as a tumor suppressor in prostate cancer via targeting CCNL1.
      Title: MiR-5195-3p functions as a tumor suppressor in prostate cancer via targeting CCNL1.
    3. Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR).
      Title: Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population.
    4. CCNL1 is the target gene of miR-199b-5p.
      Title: Overexpression of miR‑199b‑5p inhibits Ewing's sarcoma cell lines by targeting CCNL1.
    5. Data indicate that if the newborn carried a risk allele rs900400 near LEKR/CCNL1, the impact of stress on birth size was stronger.
      Title: The interplay of variants near LEKR and CCNL1 and social stress in relation to birth size.
    6. birth weight lowering effect of the C-allele of rs900400 located near LEKR1 and CCNL1 was replicated in the Danish population. Furthermore the C-allele was associated with increased insulin response following oral glucose stimulation
      Title: The birth weight lowering C-allele of rs900400 near LEKR1 and CCNL1 associates with elevated insulin release following an oral glucose challenge.
    7. Data show low birth weight in Asian Indians is not due to variation near CCNL1/ADCY5, but variant ADCY5 is associated with elevated glucose/decreased insulin response which suggests a common genetic cause of low birth weight and risk of type 2 diabetes.
      Title: Absence of birth-weight lowering effect of ADCY5 and near CCNL, but association of impaired glucose-insulin homeostasis with ADCY5 in Asian Indians.
    8. These data demonstrate that there is a fine balance between CCNL1 and TIMP1, which may contribute to breast cancer development.
      Title: A fine balance between CCNL1 and TIMP1 contributes to the development of breast cancer cells.
    9. Our results suggest that a genetic variant of ccnl1 leads to symmetric growth restriction from early pregnancy onward
      Title: Variants near CCNL1/LEKR1 and in ADCY5 and fetal growth characteristics in different trimesters.
    10. Cyclin L1 amplification is associated with uterine cervical carcinoma.
      Title: Amplification of CyclinL1 in uterine cervical carcinoma has prognostic implications.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
    EBI GWAS Catalog
    Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
    EBI GWAS Catalog

    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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of centrosome cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of cyclin-dependent protein kinase holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of cyclin-dependent protein kinase holoenzyme complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cyclin-L1
    Names
    cyclin L ania-6a
    cyclin L gamma
    cyclin-L

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001308185.2 → NP_001295114.1  cyclin-L1 isoform 2

      See identical proteins and their annotated locations for NP_001295114.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 3' exon and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC104411
      Consensus CDS
      CCDS77847.1
      UniProtKB/Swiss-Prot
      Q9UK58
      Related
      ENSP00000420277.1, ENST00000461804.5
      Conserved Domains (1) summary
      cl40454
      Location:40 → 195
      CYCLIN_SF; Cyclin box fold superfamily

    2. NM_020307.4 → NP_064703.1  cyclin-L1 isoform 1

      See identical proteins and their annotated locations for NP_064703.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC104411
      Consensus CDS
      CCDS3178.1
      UniProtKB/Swiss-Prot
      B3KMY3, C9JPL0, Q6NVY9, Q6UWS7, Q8NI48, Q96QT0, Q9NZF3, Q9UK58
      Related
      ENSP00000295926.4, ENST00000295926.8
      Conserved Domains (1) summary
      cl40454
      Location:40 → 195
      CYCLIN_SF; Cyclin box fold superfamily

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      157143121..157160147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713710.5 → XP_006713773.1  cyclin-L1 isoform X1

      See identical proteins and their annotated locations for XP_006713773.1

      Conserved Domains (2) summary
      cd20592
      Location:199 → 321
      CYCLIN_CCNL1_rpt2; second cyclin box found in cyclin-L1 (CCNL1) and similar proteins
      cl40454
      Location:40 → 195
      CYCLIN_SF; Cyclin box fold superfamily

    2. XM_047448605.1 → XP_047304561.1  cyclin-L1 isoform X3

    3. XM_011513011.4 → XP_011511313.1  cyclin-L1 isoform X3

      See identical proteins and their annotated locations for XP_011511313.1

      Conserved Domains (1) summary
      smart00385
      Location:50 → 119
      CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma

    4. XM_024453669.2 → XP_024309437.1  cyclin-L1 isoform X5

      Conserved Domains (1) summary
      smart00385
      Location:11 → 68
      CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma

    5. XM_047448606.1 → XP_047304562.1  cyclin-L1 isoform X4

    6. XM_047448604.1 → XP_047304560.1  cyclin-L1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      159917663..159934689 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347313.1 → XP_054203288.1  cyclin-L1 isoform X1

    2. XM_054347315.1 → XP_054203290.1  cyclin-L1 isoform X3

    3. XM_054347314.1 → XP_054203289.1  cyclin-L1 isoform X3

    4. XM_054347316.1 → XP_054203291.1  cyclin-L1 isoform X5

    5. XM_054347317.1 → XP_054203292.1  cyclin-L1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UK58.1 GenPept UniProtKB/Swiss-Prot:Q9UK58

    Gene LinkOut

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

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