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CCNL1 cyclin L1 [ Homo sapiens (human) ]

Gene ID: 57018, updated on 4-Oct-2020

Summary

Official Symbol
CCNL1provided by HGNC
Official Full Name
cyclin L1provided by HGNC
Primary source
HGNC:HGNC:20569
See related
Ensembl:ENSG00000163660 MIM:613384
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
Expression
Broad expression in bone marrow (RPKM 197.4), appendix (RPKM 28.6) and 17 other tissues See more
Orthologs

Genomic context

See CCNL1 in Genome Data Viewer
Location:
3q25.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (157143121..157160180, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (156864291..156878482, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 880 Neighboring gene long intergenic non-protein coding RNA 2029 Neighboring gene long intergenic non-protein coding RNA 881 Neighboring gene uncharacterized LOC101928236 Neighboring gene keratin 18 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 146

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits.
GeneReviews: Not available
Genome-wide association study of smoking behaviours in patients with COPD.
GeneReviews: Not available
Genome-wide meta-analysis for severe diabetic retinopathy.
GeneReviews: Not available
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
GeneReviews: Not available
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA processing IEA
Inferred from Electronic Annotation
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001308185.2NP_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
    COG5333
    Location:74274
    CCL1; Cdk activating kinase (CAK)/RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH/TFIIK, cyclin H subunit [Cell division and chromosome partitioning / Transcription / DNA replication, recombination, and repair]
  2. NM_020307.4NP_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
    Q9UK58
    Related
    ENSP00000295926.3, ENST00000295926.7
    Conserved Domains (1) summary
    COG5333
    Location:74274
    CCL1; Cdk activating kinase (CAK)/RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH/TFIIK, cyclin H subunit [Cell division and chromosome partitioning / Transcription / DNA replication, recombination, and repair]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    157143121..157160180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713710.4XP_006713773.1  cyclin-L1 isoform X1

    See identical proteins and their annotated locations for XP_006713773.1

    Conserved Domains (1) summary
    cl28538
    Location:74274
    CCL1; Cdk activating kinase (CAK)/RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH/TFIIK, cyclin H subunit [Cell division and chromosome partitioning / Transcription / DNA replication, recombination, and repair]
  2. XM_005247648.4XP_005247705.1  cyclin-L1 isoform X2

    See identical proteins and their annotated locations for XP_005247705.1

    Conserved Domains (1) summary
    smart00385
    Location:50119
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
  3. XM_017006893.1XP_016862382.1  cyclin-L1 isoform X4

    UniProtKB/Swiss-Prot
    Q9UK58
    Conserved Domains (1) summary
    smart00385
    Location:147
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
  4. XM_017006891.1XP_016862380.1  cyclin-L1 isoform X3

    Conserved Domains (1) summary
    smart00385
    Location:1168
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
  5. XM_017006892.2XP_016862381.1  cyclin-L1 isoform X4

    UniProtKB/Swiss-Prot
    Q9UK58
    Conserved Domains (1) summary
    smart00385
    Location:147
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
  6. XM_017006897.1XP_016862386.1  cyclin-L1 isoform X5

  7. XM_011513011.3XP_011511313.1  cyclin-L1 isoform X2

    See identical proteins and their annotated locations for XP_011511313.1

    Conserved Domains (1) summary
    smart00385
    Location:50119
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
  8. XM_024453669.1XP_024309437.1  cyclin-L1 isoform X3

    Conserved Domains (1) summary
    smart00385
    Location:1168
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma

RNA

  1. XR_002959556.1 RNA Sequence

  2. XR_001740217.2 RNA Sequence

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