This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhoo... See more...

Aliases for HLF Gene

Aliases for HLF Gene

  • HLF Transcription Factor, PAR BZIP Family Member 2 3 5
  • Hepatic Leukemia Factor 2 3 4
  • HLF, PAR BZIP Transcription Factor 2 3
  • PAR BZIP Transcription Factor 2 3
  • MGC33822 2
  • HLF 5

External Ids for HLF Gene

Previous GeneCards Identifiers for HLF Gene

  • GC17P053073
  • GC17P055823
  • GC17P053684
  • GC17P053817
  • GC17P050697
  • GC17P053342
  • GC17P048701

Summaries for HLF Gene

Entrez Gene Summary for HLF Gene

  • This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HLF Gene

HLF (HLF Transcription Factor, PAR BZIP Family Member) is a Protein Coding gene. Diseases associated with HLF include Leukemia, Acute Lymphoblastic 3 and Leukemia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and double-stranded DNA binding. An important paralog of this gene is TEF.

Gene Wiki entry for HLF Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLF Gene

Genomics for HLF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HLF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J055264 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.5 1541 4.6 SP1 HNRNPL GATAD2A REST KDM1A JUND FOXA1 RBFOX2 PATZ1 IRF2 HLF piR-49817 MMD
GH17J055263 Enhancer 0.3 ENCODE 600.7 -1.2 -1165 0.2 EZH2 GLIS1 HLF 5MWI_A-077 COX11
GH17J055281 Promoter/Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 22.3 +20.2 20221 6.8 HNRNPL GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 ZNF7 JUND lnc-STXBP4-6 HLF ENSG00000263096 MMD COX11 STXBP4 RF00994-407
GH17J055237 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas 15.1 -26.8 -26755 2.2 ATF7 PRDM10 TFE3 ZNF512 IKZF1 NFKBIZ ZNF692 RCOR2 LARP7 PRDM1 5MWI_A-077 HLF piR-61532-120 lnc-HLF-1 COX11
GH17J055301 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.8 +39.2 39241 5.2 CREB1 GATAD2A ATF7 TEAD4 REST TFE3 SOX13 NFKBIZ RCOR2 RXRB HLF ENSG00000263096 RF00994-407 ENSG00000262079 MMD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HLF

Top Transcription factor binding sites by QIAGEN in the HLF gene promoter:
  • GATA-1
  • HSF1short
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for HLF Gene

Genomic Locations for HLF Gene
chr17:55,264,960-55,325,187
(GRCh38/hg38)
Size:
60,228 bases
Orientation:
Plus strand
chr17:53,342,321-53,402,426
(GRCh37/hg19)
Size:
60,106 bases
Orientation:
Plus strand

Genomic View for HLF Gene

Genes around HLF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HLF Gene

Proteins for HLF Gene

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

    Protein Symbol:
    Q16534-HLF_HUMAN
    Recommended name:
    Hepatic leukemia factor
    Protein Accession:
    Q16534
    Secondary Accessions:
    • A8K1X8
    • Q6FHS9

    Protein attributes for HLF Gene

    Size:
    295 amino acids
    Molecular mass:
    33199 Da
    Quaternary structure:
    • Binds DNA specifically as homodimer or heterodimer with other PAR factors.
    SequenceCaution:
    • Sequence=AAA58445.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HLF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HLF Gene

Post-translational modifications for HLF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HLF Gene

Domains & Families for HLF Gene

Gene Families for HLF Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HLF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HLF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77731 (A8K1X8_HUMAN)
  • Hepatic leukemia factor (HLF_HUMAN)
  • cDNA, FLJ96035, Homo sapiens hepatic leukemia factor (HLF), mRNA (Q6FHS9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16534

UniProtKB/Swiss-Prot:

HLF_HUMAN :
  • Belongs to the bZIP family. PAR subfamily.
Family:
  • Belongs to the bZIP family. PAR subfamily.
genes like me logo Genes that share domains with HLF: view

Function for HLF Gene

Molecular function for HLF Gene

UniProtKB/Swiss-Prot Induction:
Accumulates according to a robust circadian rhythm.
GENATLAS Biochemistry:
hepatic leukemia factor,rearranged in acute B-cell leukemia,with translocation t(17;19)

Phenotypes From GWAS Catalog for HLF Gene

Gene Ontology (GO) - Molecular Function for HLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 8065331
GO:0003677 DNA binding IEA,TAS 8639829
GO:0003690 double-stranded DNA binding TAS 1386162
genes like me logo Genes that share ontologies with HLF: view
genes like me logo Genes that share phenotypes with HLF: view

Animal Models for HLF Gene

MGI Knock Outs for HLF:
  • Hlf Hlf<tm1Schb>

Animal Model Products

CRISPR Products

Transcription Factor Targets for HLF Gene

Selected GeneGlobe predicted Target genes for HLF

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for HLF Gene

Localization for HLF Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLF Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLF gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with HLF: view

Pathways & Interactions for HLF Gene

PathCards logo

SuperPathways for HLF Gene

No Data Available

Gene Ontology (GO) - Biological Process for HLF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS 8639829
GO:0007275 multicellular organism development TAS 1386162
GO:0035914 skeletal muscle cell differentiation IEA --
genes like me logo Genes that share ontologies with HLF: view

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

Drugs & Compounds for HLF Gene

(1) Drugs for HLF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HLF: view

Transcripts for HLF Gene

mRNA/cDNA for HLF Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLF

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11a · 11b · 11c
SP1: - - - - - - - - - - - -
SP2: - - -
SP3: - - - - -
SP4: -
SP5: - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - -
SP10:
SP11: - - - - - - - -

Relevant External Links for HLF Gene

GeneLoc Exon Structure for
HLF

Expression for HLF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HLF Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLF Gene



Protein tissue co-expression partners for HLF Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLF

SOURCE GeneReport for Unigene cluster for HLF Gene:

Hs.196952

mRNA Expression by UniProt/SwissProt for HLF Gene:

Q16534-HLF_HUMAN
Tissue specificity: Highly expressed in liver; lower levels in lung and kidney.

Evidence on tissue expression from TISSUES for HLF Gene

  • Nervous system(4.9)
  • Liver(3.1)
  • Muscle(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with HLF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLF Gene

Orthologs for HLF Gene

This gene was present in the common ancestor of animals.

Orthologs for HLF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HLF 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HLF 30 31
  • 95.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HLF 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC690286 30
  • 91.75 (n)
Mouse
(Mus musculus)
Mammalia Hlf 30 17 31
  • 91.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HLF 30 31
  • 89.94 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HLF 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HLF 30 31
  • 83.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HLF 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hlf 30
  • 77.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii hlfa 30
  • 73.15 (n)
hlfb 31
  • 71 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3939 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006376 30
  • 57.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pdp1 30 31
  • 54.43 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6834 31
  • 13 (a)
OneToMany
Species where no ortholog for HLF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HLF Gene

ENSEMBL:
Gene Tree for HLF (if available)
TreeFam:
Gene Tree for HLF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HLF: view image

Paralogs for HLF Gene

Paralogs for HLF Gene

(2) SIMAP similar genes for HLF Gene using alignment to 3 proteins:

  • HLF_HUMAN
  • I3L386_HUMAN
  • I3L4R4_HUMAN

Pseudogenes.org Pseudogenes for HLF Gene

genes like me logo Genes that share paralogs with HLF: view

Variants for HLF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLF Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
779173 Benign: not provided 55,265,559(+) G/A SYNONYMOUS_VARIANT
rs193920793 Uncertain Significance: Malignant tumor of prostate 55,268,070(+) G/GA FRAMESHIFT_VARIANT
VAR_008515 - p.Ile253Phe

Additional dbSNP identifiers (rs#s) for HLF Gene

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

Variant ID Type Subtype PubMed ID
esv3573742 CNV gain 25503493
esv3582824 CNV loss 25503493
esv3582825 CNV loss 25503493

Variation tolerance for HLF Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 6.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HLF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLF

SNP Genotyping and Copy Number Assay Products

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

Disorders for HLF Gene

MalaCards: The human disease database

(5) MalaCards diseases for HLF Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute lymphoblastic 3
  • burkitt lymphoma
leukemia
  • leukemias
partial motor epilepsy
  • epilepsy, focal motor
erythrocytosis, familial, 1
  • ecyt1
leukemia, acute lymphoblastic
  • all
- elite association - COSMIC cancer census association via MalaCards
Search HLF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HLF_HUMAN
  • Note=A chromosomal aberration involving HLF is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(17;19)(q22;p13.3) with TCF3.

Genatlas disease for HLF Gene

acute lymphoblastic leukemia,preB-cell,with t(17;19)(q22;p13) translocation (see TCF3),associated with CDNK2A and/or CDKN2B deletion

Additional Disease Information for HLF

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HLF: view

Publications for HLF Gene

  1. Fusion of the leucine zipper gene HLF to the E2A gene in human acute B-lineage leukemia. (PMID: 1386162) Inaba T … Look AT (Science (New York, N.Y.) 1992) 2 3 4 23
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41
  3. Thyroid hormone induces hypoxia-inducible factor 1alpha gene expression through thyroid hormone receptor beta/retinoid x receptor alpha-dependent activation of hepatic leukemia factor. (PMID: 18239067) Otto T … Fandrey J (Endocrinology 2008) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. E2A basic helix-loop-helix transcription factors in human leukemia. (PMID: 12700034) LeBrun DP (Frontiers in bioscience : a journal and virtual library 2003) 3 23

Products for HLF Gene

Sources for HLF Gene