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CLLU1 chronic lymphocytic leukemia up-regulated 1 [ Homo sapiens (human) ]

Gene ID: 574028, updated on 5-Mar-2024

Summary

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Official Symbol
CLLU1provided by HGNC
Official Full Name
chronic lymphocytic leukemia up-regulated 1provided by HGNC
Primary source
HGNC:HGNC:29841
See related
Ensembl:ENSG00000257127 MIM:616988; AllianceGenome:HGNC:29841
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See CLLU1 in Genome Data Viewer
Location:
12q22
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (92421531..92431002)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (92399009..92408487)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (92815307..92824778)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2391 Neighboring gene uncharacterized LOC105369902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6731 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2878 Neighboring gene uncharacterized LOC107984467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6732 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2880 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2881 Neighboring gene CLLU1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6740 Neighboring gene Sharpr-MPRA regulatory region 8533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6743 Neighboring gene long intergenic non-protein coding RNA 2397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6747 Neighboring gene uncharacterized LOC105369904

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. The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience. Sevinc M, et al. Lab Med, 2020 May 6. PMID 31589746
  2. Prognostic markers and their clinical applicability in chronic lymphocytic leukemia: where do we stand? Rosenquist R, et al. Leuk Lymphoma, 2013 Nov. PMID 23480493
  3. 450K-array analysis of chronic lymphocytic leukemia cells reveals global DNA methylation to be relatively stable over time and similar in resting and proliferative compartments. Cahill N, et al. Leukemia, 2013 Jan. PMID 22922567
  4. CLLU1 expression has prognostic value in chronic lymphocytic leukemia after first-line therapy in younger patients and in those with mutated IGHV genes. Gonzalez D, et al. Haematologica, 2013 Feb. PMID 22899580, Free PMC Article
  5. CLLU1 expression distinguishes chronic lymphocytic leukemia from other mature B-cell neoplasms. Oppliger Leibundgut E, et al. Leuk Res, 2012 Sep. PMID 22738889

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience.
    Title: The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience.
  2. in this paper we have showed that evolutionary new genes DCD1(Dermicidin), LINC00309 and CLLU1 have tumor-specific expression profile
    Title: [Study of tumor-specific expression of some evolutionary new genes].
  3. the level of CLLU1 mRNA expression provided prognostic information in patients with CLL.
    Title: CLLU1 expression has prognostic value in chronic lymphocytic leukemia after first-line therapy in younger patients and in those with mutated IGHV genes.
  4. Analysis of CLLU1 expression is a rapid and reliable tool that may facilitate the diagnosis of mature B-cell neoplasms especially in inconclusive cases.
    Title: CLLU1 expression distinguishes chronic lymphocytic leukemia from other mature B-cell neoplasms.
  5. Assessment of blood CLLU1 levels can be used as a reliable marker of tumor burden and has the potential to complement currently used techniques for minimal residual disease monitoring in patients with chronic lymphocytic leukemia.
    Title: Analysis of CLLU1 expression levels before and after therapy in patients with chronic lymphocytic leukemia.
  6. CLLU1 expression was significantly associated with clinical stage and CD38 expression in chronic lymphocytic leukemia.
    Title: [Expression of CLLU1 in patients with chronic lymphocytic leukemia and its prognostic significance].
  7. CLLU1 is a novel human-specific protein-coding gene.
    Title: Recent de novo origin of human protein-coding genes.
  8. The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone
    Title: The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone.
  9. The expression levels of CLLU1 were significantly increased in B + C CLL patients at Binet stage compared with those at Binet stage A (P = 0.005).
    Title: The prognostic evaluation of CLLU1 expression levels in 50 Chinese patients with chronic lymphocytic leukemia.
  10. CLLU1 is the first disease-specific gene identified in chronic lymphocytic leukemia.
    Title: Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

General gene information

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Markers

Homology

Other Names

  • chronic lymphocytic leukemia up-regulated protein 1

Clone Names

  • MGC173218, MGC180158

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

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.

RNA

  1. NR_027932.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript.
    Source sequence(s)
    AJ845162, AJ845163
    Related
    ENST00000472839.6

  2. NR_027933.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, compared to variant 2.
    Source sequence(s)
    AJ845162
    Related
    ENST00000512817.1

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    92421531..92431002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    92399009..92408487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001025233.2: Suppressed sequence

    Description
    NM_001025233.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5K131.1 GenPept UniProtKB/Swiss-Prot:Q5K131

Gene LinkOut

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