CCNL1 cyclin L1 [Homo sapiens (human)] - Gene

Summary

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, Nov 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SCF[FBXW7] regulates G2-M progression through control of CCNL1 ubiquitination.
Title: SCF(FBXW7) regulates G2-M progression through control of CCNL1 ubiquitination.
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.
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.
CCNL1 is the target gene of miR-199b-5p.
Title: Overexpression of miR‑199b‑5p inhibits Ewing's sarcoma cell lines by targeting CCNL1.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours in patients with COPD. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis for severe diabetic retinopathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2788E (e-PCR)
- UniSTS:150826

T03514 (e-PCR)
- UniSTS:76609

CCNL1_509 (e-PCR)
- UniSTS:277061

RH18144 (e-PCR)
- UniSTS:209596

STS-N34441 (e-PCR)
- UniSTS:71103

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
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

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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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)

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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

157143121..157160147 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047448605.1 → XP_047304561.1 cyclin-L1 isoform X3
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
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
XM_047448606.1 → XP_047304562.1 cyclin-L1 isoform X4
XM_047448604.1 → XP_047304560.1 cyclin-L1 isoform X2