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CLLU1 Gene

protein-coding   GIFtS: 33
GCID: GC12P092817

Chronic Lymphocytic Leukemia Up-Regulated 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chronic Lymphocytic Leukemia Up-Regulated 11 2
Chronic Lymphocytic Leukemia Up-Regulated Protein 12

External Ids:    HGNC: 298411   Entrez Gene: 5740282   Ensembl: ENSG000002571277   UniProtKB: Q5K1313   

Export aliases for CLLU1 gene to outside databases

Previous GC identifers: GC12U900504 GC12P091341 GC12P089882


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CLLU1 Gene:
CLLU1 (chronic lymphocytic leukemia up-regulated 1) is a protein-coding gene. Diseases associated with CLLU1 include mature b-cell neoplasm, and chronic lymphocytic leukemia.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CLLU1 gene promoter:
         STAT1   Sox5   AML1a   STAT4   STAT1beta   Nkx2-5   POU3F2   STAT1alpha   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLLU1 promoter sequence
   Search Chromatin IP Primers for CLLU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLLU1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q22   HGNC cytogenetic band: 12q22

CLLU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLLU1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P092817:  view genomic region     (about GC identifiers)

Start:
92,815,307 bp from pter      End:
92,824,778 bp from pter
Size:
9,472 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CLLU1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CLLU1_HUMAN, Q5K131 (See protein sequence)
Recommended Name: Chronic lymphocytic leukemia up-regulated protein 1  
Size: 121 amino acids; 14228 Da
Miscellaneous: Tridimensional modeling predicts that it may interact with the IL-4 receptor
Miscellaneous: 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

Explore the universe of human proteins at neXtProt for CLLU1: NX_Q5K131

Explore proteomics data for CLLU1 at MOPED


See CLLU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001020404.1  
ENSEMBL proteins: 
 ENSP00000367746  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q5K131


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CLLU1_HUMAN, Q5K131: Cytoplasm. Note=Detected in the cytoplasm of chronic lymphocytic leukemia (CLL) cells
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
plasma membrane2
lysosome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

CLLU1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLLU1
Interactions:

    Search GeneGlobe Interaction Network for CLLU1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CLLU1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CLLU1 gene: 
NM_001025233.1  

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000589406 ENST00000472839(uc001tcc.2) ENST00000512817(uc001tcd.2)
ENST00000586526 ENST00000378485(uc001tcf.2)
miRNA
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hsa-miR-579 hsa-miR-323-3p hsa-miR-2052 hsa-miR-4254 hsa-miR-4307 hsa-miR-19b-2* hsa-miR-4328 hsa-miR-488
SwitchGear 3'UTR luciferase reporter plasmidCLLU1 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat CLLU1

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CLLU1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAGTGTAAAA
CLLU1 Expression
About this image

CLLU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CLLU1 Protein Expression

UniProtKB/Swiss-Prot: CLLU1_HUMAN, Q5K131
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

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLLU1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for CLLU1 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia CLLU11 chronic lymphocytic leukemia up-regulated 1 98.07(n)
98.35(a)
  100615935  XM_003954467.1  XP_003954516.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CLLU1 (see all 41)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1478543261,2
--92813352(+) CTATGC/TCCATG 2 -- us2k10--------
rs1176383701,2
C,F--92823956(+) CTTAAC/TGTTCT 3 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.01NA 120
rs1822503211,2
--92824058(+) GTCTAC/TAGCTC 3 -- ut31 nc-transcript-variant0--------
rs125786431,2
C,F,H--92824073(+) GTATAT/AACACC 3 -- ut31 nc-transcript-variant12Minor allele frequency- A:0.16NS EA NA CSA WA 782
rs755183891,2
C,F--92824143(+) TCAGCA/GACCTT 3 -- ut31 nc-transcript-variant2Minor allele frequency- G:0.02CSA WA 119
rs1865590311,2
--92824150(+) CCTTTC/TCTAAA 3 -- ut31 nc-transcript-variant0--------
rs1926438421,2
--92824218(+) TTCAAA/CTCACC 3 -- ut31 nc-transcript-variant0--------
rs1417145051,2
--92824240(+) AAGGAA/GCCATA 3 -- ut31 nc-transcript-variant0--------
rs3738153991,2
C--92824273(+) TGGCT-/GGTTTT 6 -- ut31 nc-transcript-variant0--------
rs1505606471,2
C--92824307(+) ATTTAC/TAAAAG 3 -- ut31 nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for CLLU1 (92815307 - 92824778 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for CLLU1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7234OTHER Inversion18451855

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for CLLU1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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4 diseases for CLLU1:    
About MalaCards
mature b-cell neoplasm    chronic lymphocytic leukemia    coronary artery disease    leukemia

1 disease from the University of Copenhagen DISEASES database for CLLU1:
Chronic lymphocytic leukemia

CLLU1 for disorders           About GeneDecksing

Genetic Association Database (GAD): CLLU1

Export disorders for CLLU1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CLLU1 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with CLLU1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Recent de novo origin of human protein-coding genes. (PubMed id 19726446)1, 2, 3 Knowles D.G. and McLysaght A. (Genome Res. 2009)
  2. The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone. (PubMed id 19212335)1, 2 Buhl A.M.... Leffers H. (Leukemia 2009)
  3. CLLU1 expression analysis adds prognostic information to risk prediction in chronic lymphocytic leukemia. (PubMed id 17284524)1, 2 Josefsson P.... Buhl A.M. (Blood 2007)
  4. Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia. (PubMed id 16339396)1, 2 Buhl A.M.... Leffers H. (Blood 2006)
  5. CLLU1 expression has prognostic value in chronic lymphocytic leukemia after first-line therapy in younger patients and in those with mutated IGHV genes. (PubMed id 22899580)1 Gonzalez D....Catovsky D. (Haematologica 2013)
  6. CLLU1 expression distinguishes chronic lymphocytic leukemia from other mature B-cell neoplasms. (PubMed id 22738889)1 Oppliger Leibundgut E....Baerlocher G.M. (Leuk. Res. 2012)
  7. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
  8. Analysis of CLLU1 expression levels before and after therapy in patients with chronic lymphocytic leukemia. (PubMed id 21323738)1 Buhl A.M....Kipps T.J. (Eur. J. Haematol. 2011)
  9. [Expression of CLLU1 in patients with chronic lymphocytic leukemia and its prognostic significance]. (PubMed id 18457263)1 Chen L.J....Li J.Y. (Zhonghua Xue Ye Xue Za Zhi 2007)
  10. The prognostic evaluation of CLLU1 expression levels in 50 Chinese patients with chronic lymphocytic leukemia. (PubMed id 17786715)1 Chen L....Xu W. (amp 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 574028 HGNC: 29841 Ensembl:ENSG00000257127 euGenes: HUgn574028 ECgene: CLLU1
H-InvDB: CLLU1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CLLU1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CLLU1 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CLLU1 gene:
Search GeneIP for patents involving CLLU1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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