Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HLF (hepatic leukemia factor)

Written1999-09Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

Identity

Alias_nameshepatic leukemia factor
PAR bZIP transcription factor
Alias_symbol (synonym)MGC33822
Other alias
HGNC (Hugo) HLF
LocusID (NCBI) 3131
Atlas_Id 47
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 55266222 and ends at 55325176 bp from pter ( according to hg19-Feb_2009)  [Mapping HLF.png]
Fusion genes
(updated 2016)
HLF (17q22) / TCF3 (19p13.3)TCF3 (19p13.3) / HLF (17q22)

DNA/RNA

 
  DNA diagram
Transcription 3.9 kb

Protein

 
  Protein diagram
Description 295 amino acids, MW 43 kDa
Expression HLF is normally expressed in hepatocytes and liver-derived cell lines, and, to a lesser extent, in lung, kidney and neurons of the central nervous system; it is not expressed in hematopoietic tissues or cell lines
Localisation nuclear
Function the normal function of HLF is largely unknown; HLF is a member of the PAR (proline and acidic amino acid-rich region) subfamily of b/ZIP (basic region leucine zipper) transcription factors; PAR and b/ZIP proteins bind to the DNA as dimers; HLF acts as a transcriptionnal transactivator; there are evidences that HLF protein transactivates factor VIII and factor IX genes, by binding as a homodimer (HLF/HLF) or a heterodimer with one albumin D-element binding protein sub unit (HLF/DBP), to multiple sites in the promoter of these genes; in the mouse central nervous system ontogeny, HLF expression increases markedly with synaptogenesis, suggesting that HLF plays a role in the function of adult differentiated neurons
Homology other members of the b/ZIP PAR subfamily; in mammals: albumin D-element binding protein (DBP) and thyrotroph embryonic factor / vitellogenin gene binding protein (TEF/VBP); like HLF, they are transcription activators; the three proteins have an ability to form heterodimers with one another through the leucine-zipper domain; in other species : vitellogenin binding protein (VBP) in the chicken and Ces-2 gene in the nematode Caenorhabditis elegans

Implicated in

Note
  
Entity t(17;19)(q22;p13) in acute lymphoblastic leukemia --> E2A - HLF fusion gene
Disease childhood pro-B cell acute lymphoblastic leukemia
Prognosis poor prognosis is likely
Abnormal Protein fusion encodes a protein which contains the AD1 and AD2 transactivation domains of E2A, linked to the bZIP DNA binding / protein dimerization region of HLF
Oncogenesis E2A-HLF alters the apoptotic pathway of pro-B lymphocytic cells, leading to the survival of defective cells that would normally be eliminated; it is to be noted that, in normal tissues, there is no evidence in favour of a role of native HLF in apoptosis regulation
  

Bibliography

Enhanced binding of HLF/DBP heterodimers represents one mechanism of PAR protein transactivation of the factor VIII and factor IX genes.
Begbie M, Mueller C, Lillicrap D
DNA and cell biology. 1999 ; 18 (2) : 165-173.
PMID 10073576
 
Expression patterns of the hepatic leukemia factor gene in the nervous system of developing and adult mice.
Hitzler JK, Soares HD, Drolet DW, Inaba T, O'Connel S, MG Rosenfeld, Morgan JI, Look AT
Brain research. 1999 ; 820 (1-2) : 1-11.
PMID 10023025
 
Chromosomal translocations involving the E2A gene in acute lymphoblastic leukemia: clinical features and molecular pathogenesis.
Hunger SP
Blood. 1996 ; 87 (4) : 1211-1224.
PMID 8608207
 
The proto-oncogene HLF and the related basic leucine zipper protein TEF display highly similar DNA-binding and transcriptional regulatory properties.
Hunger SP, Li S, Fall MZ, Naumovski L, Cleary ML
Blood. 1996 ; 87 (11) : 4607-4617.
PMID 8639829
 
Fusion of the leucine zipper gene HLF to the E2A gene in human acute B-lineage leukemia.
Inaba T, Roberts WM, Shapiro LH, Jolly KW, Raimondi SC, Smith SD, Look AT
Science (New York, N.Y.). 1992 ; 257 (5069) : 531-534.
PMID 1386162
 
Cell transformation mediated by homodimeric E2A-HLF transcription factors.
Inukai T, Inaba T, Yoshihara T, Look AT
Molecular and cellular biology. 1997 ; 17 (3) : 1417-1424.
PMID 9032268
 
Regulation of the DBP promoter by PAR proteins and in leukemic cells bearing an E2A/HLF translocation.
Newcombe K, Glassco T, Mueller C
Biochemical and biophysical research communications. 1998 ; 245 (2) : 633-639.
PMID 9571207
 

Citation

This paper should be referenced as such :
Viguié, F
HLF (hepatic leukemia factor)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):135-136.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HLFID47.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;19)(q23;p13) TCF3/PBX1
t(17;19)(q22;p13) TCF3/HLF


External links

Nomenclature
HGNC (Hugo)HLF   4977
Cards
AtlasHLFID47
Entrez_Gene (NCBI)HLF  3131  HLF, PAR bZIP transcription factor
Aliases
GeneCards (Weizmann)HLF
Ensembl hg19 (Hinxton)ENSG00000108924 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108924 [Gene_View]  chr17:55266222-55325176 [Contig_View]  HLF [Vega]
ICGC DataPortalENSG00000108924
TCGA cBioPortalHLF
AceView (NCBI)HLF
Genatlas (Paris)HLF
WikiGenes3131
SOURCE (Princeton)HLF
Genetics Home Reference (NIH)HLF
Genomic and cartography
GoldenPath hg38 (UCSC)HLF  -     chr17:55266222-55325176 +  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HLF  -     17q22   [Description]    (hg19-Feb_2009)
EnsemblHLF - 17q22 [CytoView hg19]  HLF - 17q22 [CytoView hg38]
Mapping of homologs : NCBIHLF [Mapview hg19]  HLF [Mapview hg38]
OMIM142385   
Gene and transcription
Genbank (Entrez)AA021027 AF035305 AK074289 AK290043 AK295726
RefSeq transcript (Entrez)NM_001330375 NM_002126
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HLF
Cluster EST : UnigeneHs.196952 [ NCBI ]
CGAP (NCI)Hs.196952
Alternative Splicing GalleryENSG00000108924
Gene ExpressionHLF [ NCBI-GEO ]   HLF [ EBI - ARRAY_EXPRESS ]   HLF [ SEEK ]   HLF [ MEM ]
Gene Expression Viewer (FireBrowse)HLF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3131
GTEX Portal (Tissue expression)HLF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16534
Splice isoforms : SwissVarQ16534
PhosPhoSitePlusQ16534
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)   
Domains : Interpro (EBI)bZIP    HLF   
Domain families : Pfam (Sanger)bZIP_2 (PF07716)   
Domain families : Pfam (NCBI)pfam07716   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)HLF
DMDM Disease mutations3131
Blocks (Seattle)HLF
SuperfamilyQ16534
Human Protein AtlasENSG00000108924
Peptide AtlasQ16534
HPRD00797
IPIIPI00002850   IPI01011539   IPI00910584   
Protein Interaction databases
DIP (DOE-UCLA)Q16534
IntAct (EBI)Q16534
FunCoupENSG00000108924
BioGRIDHLF
STRING (EMBL)HLF
ZODIACHLF
Ontologies - Pathways
QuickGOQ16534
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  double-stranded DNA binding  nucleus  nucleus  transcription from RNA polymerase II promoter  multicellular organism development  skeletal muscle cell differentiation  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  rhythmic process  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  double-stranded DNA binding  nucleus  nucleus  transcription from RNA polymerase II promoter  multicellular organism development  skeletal muscle cell differentiation  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  rhythmic process  
NDEx NetworkHLF
Atlas of Cancer Signalling NetworkHLF
Wikipedia pathwaysHLF
Orthology - Evolution
OrthoDB3131
GeneTree (enSembl)ENSG00000108924
Phylogenetic Trees/Animal Genes : TreeFamHLF
HOVERGENQ16534
HOGENOMQ16534
Homologs : HomoloGeneHLF
Homology/Alignments : Family Browser (UCSC)HLF
Gene fusions - Rearrangements
Fusion : MitelmanTCF3/HLF [19p13.3/17q22]  [t(17;19)(q22;p13)]  
Fusion : TICdbTCF3 [19p13.3]  -  HLF [17q22]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLF
dbVarHLF
ClinVarHLF
1000_GenomesHLF 
Exome Variant ServerHLF
ExAC (Exome Aggregation Consortium)HLF (select the gene name)
Genetic variants : HAPMAP3131
Genomic Variants (DGV)HLF [DGVbeta]
DECIPHERHLF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHLF 
Mutations
ICGC Data PortalHLF 
TCGA Data PortalHLF 
Broad Tumor PortalHLF
OASIS PortalHLF [ Somatic mutations - Copy number]
Cancer Gene: CensusHLF 
Somatic Mutations in Cancer : COSMICHLF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLF
intOGen PortalHLF
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HLF
DgiDB (Drug Gene Interaction Database)HLF
DoCM (Curated mutations)HLF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLF (select a term)
intoGenHLF
NCG5 (London)HLF
Cancer3DHLF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142385   
Orphanet14433   
MedgenHLF
Genetic Testing Registry HLF
NextProtQ16534 [Medical]
TSGene3131
GENETestsHLF
Target ValidationHLF
Huge Navigator HLF [HugePedia]
snp3D : Map Gene to Disease3131
BioCentury BCIQHLF
ClinGenHLF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3131
Chemical/Pharm GKB GenePA29311
Clinical trialHLF
Miscellaneous
canSAR (ICR)HLF (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLF
EVEXHLF
GoPubMedHLF
iHOPHLF
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 22 09:13:01 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.