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Aliases for CLLU1 Gene

Aliases for CLLU1 Gene

  • Chronic Lymphocytic Leukemia Up-Regulated 1 2 3 5

External Ids for CLLU1 Gene

Previous GeneCards Identifiers for CLLU1 Gene

  • GC12U900504
  • GC12P091341
  • GC12P092817
  • GC12P089882

Summaries for CLLU1 Gene

Entrez Gene Summary for CLLU1 Gene

  • 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]

GeneCards Summary for CLLU1 Gene

CLLU1 (Chronic Lymphocytic Leukemia Up-Regulated 1) is a Protein Coding gene. Diseases associated with CLLU1 include Leukemia.

Additional gene information for CLLU1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLLU1 Gene

Genomics for CLLU1 Gene

GeneHancer (GH) Regulatory Elements for CLLU1 Gene

Promoters and enhancers for CLLU1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I092423 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 550.8 +2.8 2780 0.9 POU5F1 FOSL2 CLLU1 CLLU1OS ENSG00000266923
GH12I092421 Enhancer 0.5 Ensembl 550.8 +0.2 170 0.2 GATA3 SOX6 CEBPB FOSL2 FOS FOXA1 CLLU1 ENSG00000266923 CLLU1OS
GH12I092419 Enhancer 0.2 dbSUPER 550.8 -1.3 -1317 2 CLLU1 ENSG00000266923 CLLU1OS PIR32184
GH12I092442 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +24.0 23973 5.8 PKNOX1 BATF KLF5 IRF4 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CLLU1 LINC02397 C12orf74 BTG1 ENSG00000257252 EEA1 CLLU1OS ENSG00000266923
GH12I092028 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -388.6 -388580 8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 BTG1 LOC101928617 CLLU1 GC12P092067 LOC105369901 LINC01619
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLLU1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLLU1 gene promoter:

Genomic Locations for CLLU1 Gene

Genomic Locations for CLLU1 Gene
9,472 bases
Plus strand

Genomic View for CLLU1 Gene

Genes around CLLU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLLU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLLU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLLU1 Gene

Proteins for CLLU1 Gene

  • Protein details for CLLU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Chronic lymphocytic leukemia up-regulated protein 1
    Protein Accession:

    Protein attributes for CLLU1 Gene

    121 amino acids
    Molecular mass:
    14228 Da
    Quaternary structure:
    No Data Available
    • This protein has no orthologs in other species and appears to be the product of a protein-coding gene which has arisen since divergence from chimp.
    • Tridimensional modeling predicts that it may interact with the IL-4 receptor.

neXtProt entry for CLLU1 Gene

Post-translational modifications for CLLU1 Gene

No Post-translational modifications

Other Protein References for CLLU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLLU1 Gene

Domains & Families for CLLU1 Gene

Gene Families for CLLU1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CLLU1 Gene


Suggested Antigen Peptide Sequences for CLLU1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CLLU1: view

No data available for UniProtKB/Swiss-Prot for CLLU1 Gene

Function for CLLU1 Gene

Phenotypes for CLLU1 Gene

GenomeRNAi human phenotypes for CLLU1:
genes like me logo Genes that share phenotypes with CLLU1: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLLU1 Gene

Localization for CLLU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLLU1 Gene

Cytoplasm. Note=Detected in the cytoplasm of chronic lymphocytic leukemia (CLL) cells.

Gene Ontology (GO) - Cellular Components for CLLU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CLLU1: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for CLLU1 Gene

Pathways & Interactions for CLLU1 Gene

SuperPathways for CLLU1 Gene

No Data Available

Interacting Proteins for CLLU1 Gene

Selected Interacting proteins: Q5K131-CLLU1_HUMAN for CLLU1 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CLLU1 Gene


No data available for Pathways by source and SIGNOR curated interactions for CLLU1 Gene

Drugs & Compounds for CLLU1 Gene

No Compound Related Data Available

Transcripts for CLLU1 Gene

mRNA/cDNA for CLLU1 Gene

(1) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLLU1 Gene

No ASD Table

Relevant External Links for CLLU1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CLLU1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLLU1 Gene

mRNA differential expression in normal tissues according to GTEx for CLLU1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.4).

NURSA nuclear receptor signaling pathways regulating expression of CLLU1 Gene:


SOURCE GeneReport for Unigene cluster for CLLU1 Gene:


mRNA Expression by UniProt/SwissProt for CLLU1 Gene:

Tissue specificity: Specifically expressed in chronic lymphocytic leukemia (CLL) cells from patients without immunoglobulin heavy-chain hypermutations. Expression is detected in all CLL cells and levels are similar in patients before and after treatment.

Evidence on tissue expression from TISSUES for CLLU1 Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with CLLU1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLLU1 Gene

Orthologs for CLLU1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for CLLU1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CLLU1 33
  • 98.07 (n)
Species where no ortholog for CLLU1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CLLU1 Gene

Gene Tree for CLLU1 (if available)
Gene Tree for CLLU1 (if available)

Paralogs for CLLU1 Gene

No data available for Paralogs for CLLU1 Gene

Variants for CLLU1 Gene

Sequence variations from dbSNP and Humsavar for CLLU1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000249161 -- 92,421,026(+) G/C upstream_transcript_variant
rs1000521040 -- 92,423,868(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000552162 -- 92,423,375(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000705346 -- 92,429,366(+) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1000931101 -- 92,431,350(+) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CLLU1 Gene

Variant ID Type Subtype PubMed ID
nsv7234 OTHER inversion 18451855

Variation tolerance for CLLU1 Gene

Gene Damage Index Score: 3.85; 58.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLLU1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLLU1 Gene

Disorders for CLLU1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CLLU1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
- elite association - COSMIC cancer census association via MalaCards
Search CLLU1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLLU1

genes like me logo Genes that share disorders with CLLU1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLLU1 Gene

Publications for CLLU1 Gene

  1. Recent de novo origin of human protein-coding genes. (PMID: 19726446) Knowles DG … McLysaght A (Genome research 2009) 2 3 4 58
  2. De novo origin of human protein-coding genes. (PMID: 22102831) Wu DD … Zhang YP (PLoS genetics 2011) 2 3 58
  3. The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone. (PMID: 19212335) Buhl AM … Leffers H (Leukemia 2009) 3 4 58
  4. CLLU1 expression analysis adds prognostic information to risk prediction in chronic lymphocytic leukemia. (PMID: 17284524) Josefsson P … Buhl AM (Blood 2007) 3 4 58
  5. Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia. (PMID: 16339396) Buhl AM … Leffers H (Blood 2006) 3 4 58

Products for CLLU1 Gene

Sources for CLLU1 Gene

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