Human Gene HLF (ENST00000575345.5) from GENCODE V44
  Description: Binds DNA specifically as homodimer or heterodimer with other PAR factors. (from UniProt Q16534)
RefSeq Summary (NM_001330375): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000575345.5
Gencode Gene: ENSG00000108924.14
Transcript (Including UTRs)
   Position: hg38 chr17:55,267,591-55,323,535 Size: 55,945 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr17:55,267,891-55,320,879 Size: 52,989 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:55,267,591-55,323,535)mRNA (may differ from genome)Protein (210 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIneXtProtPubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: HLF_HUMAN
DESCRIPTION: RecName: Full=Hepatic leukemia factor;
SUBUNIT: Binds DNA specifically as homodimer or heterodimer with other PAR factors.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Highly expressed in liver; lower levels in lung and kidney.
INDUCTION: Accumulates according to a robust circadian rhythm (By similarity).
DISEASE: 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.
SIMILARITY: Belongs to the bZIP family. PAR subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.
SEQUENCE CAUTION: Sequence=AAA58445.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HLFID47.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HLF
Diseases sorted by gene-association score: leukemia, acute lymphoblastic 3* (94), leukemia (17), lymphoblastic leukemia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.18 RPKM in Esophagus - Muscularis
Total median expression: 412.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.90300-0.226 Picture PostScript Text
3' UTR -638.202656-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP

Pfam Domains:
PF07716 - Basic region leucine zipper

ModBase Predicted Comparative 3D Structure on Q16534
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0035914 skeletal muscle cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC036093 - Homo sapiens hepatic leukemia factor, mRNA (cDNA clone MGC:33822 IMAGE:5288156), complete cds.
M95585 - Human hepatic leukemia factor (HLF) mRNA, complete cds.
AK315079 - Homo sapiens cDNA, FLJ96035, Homo sapiens hepatic leukemia factor (HLF), mRNA.
X68985 - H.sapiens mRNA for hepatic leukemia factor.
AB528598 - Synthetic construct DNA, clone: pF1KB3618, Homo sapiens HLF gene for hepatic leukemia factor, without stop codon, in Flexi system.
KJ891353 - Synthetic construct Homo sapiens clone ccsbBroadEn_00747 HLF gene, encodes complete protein.
CR541672 - Homo sapiens full open reading frame cDNA clone RZPDo834G1227D for gene HLF, hepatic leukemia factor; complete cds, incl. stopcodon.
AK290043 - Homo sapiens cDNA FLJ77731 complete cds.
AK295726 - Homo sapiens cDNA FLJ61122 complete cds, highly similar to Hepatic leukemia factor.
AK074289 - Homo sapiens cDNA FLJ23709 fis, clone HEP12036, highly similar to Human hepatic leukemia factor (HLF) mRNA.
DQ581705 - Homo sapiens piRNA piR-49817, complete sequence.
M95586 - Human E2A/HLA fusion protein (E2A/HLF) mRNA, complete cds.
JD408417 - Sequence 389441 from Patent EP1572962.
JD225189 - Sequence 206213 from Patent EP1572962.
JD299569 - Sequence 280593 from Patent EP1572962.
JD415684 - Sequence 396708 from Patent EP1572962.
JD390573 - Sequence 371597 from Patent EP1572962.
JD247366 - Sequence 228390 from Patent EP1572962.
JD245087 - Sequence 226111 from Patent EP1572962.
JD258517 - Sequence 239541 from Patent EP1572962.
JD411429 - Sequence 392453 from Patent EP1572962.
JD331304 - Sequence 312328 from Patent EP1572962.
JD346853 - Sequence 327877 from Patent EP1572962.
JD177348 - Sequence 158372 from Patent EP1572962.
JD338953 - Sequence 319977 from Patent EP1572962.
JD309628 - Sequence 290652 from Patent EP1572962.
JD143660 - Sequence 124684 from Patent EP1572962.
JD550718 - Sequence 531742 from Patent EP1572962.
JD402328 - Sequence 383352 from Patent EP1572962.
JD313201 - Sequence 294225 from Patent EP1572962.
JD287722 - Sequence 268746 from Patent EP1572962.
JD241871 - Sequence 222895 from Patent EP1572962.
JD202592 - Sequence 183616 from Patent EP1572962.
JD403626 - Sequence 384650 from Patent EP1572962.
JD399413 - Sequence 380437 from Patent EP1572962.
AF035305 - Homo sapiens clone 23559 mRNA sequence.
JD315494 - Sequence 296518 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK074289, ENST00000575345.1, ENST00000575345.2, ENST00000575345.3, ENST00000575345.4, HLF_HUMAN, Q16534, uc002iuh.1, uc002iuh.2, uc002iuh.3
UCSC ID: ENST00000575345.5
RefSeq Accession: NM_001330375
Protein: Q16534 (aka HLF_HUMAN)
CCDS: CCDS82164.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.