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    HLF HLF transcription factor, PAR bZIP family member [ Homo sapiens (human) ]

    Gene ID: 3131, updated on 3-Apr-2024

    Summary

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    Official Symbol
    HLFprovided by HGNC
    Official Full Name
    HLF transcription factor, PAR bZIP family memberprovided by HGNC
    Primary source
    HGNC:HGNC:4977
    See related
    Ensembl:ENSG00000108924 MIM:142385; AllianceGenome:HGNC:4977
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 22.6), brain (RPKM 22.4) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55264960..55325187)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56139963..56200189)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53342321..53402548)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53045085-53046034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:53046035-53046983 Neighboring gene cytochrome c oxidase copper chaperone COX11 Neighboring gene syntaxin binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12412 Neighboring gene MPRA-validated peak2901 silencer Neighboring gene uncharacterized LOC107985002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8731 Neighboring gene VISTA enhancer hs2291 Neighboring gene Sharpr-MPRA regulatory regions 2486 and 1497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:53398039-53398539 Neighboring gene Sharpr-MPRA regulatory region 10605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8734 Neighboring gene MPRA-validated peak2902 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12415 Neighboring gene monocyte to macrophage differentiation associated Neighboring gene small integral membrane protein 36

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. m6A RNA methylation-mediated upregulation of HLF promotes intrahepatic cholangiocarcinoma progression by regulating the FZD4/β-catenin signaling pathway. Xiang D, et al. Cancer Lett, 2023 Apr 28. PMID 36958694
    2. HLF regulates ferroptosis, development and chemoresistance of triple-negative breast cancer by activating tumor cell-macrophage crosstalk. Li H, et al. J Hematol Oncol, 2022 Jan 6. PMID 34991659, Free PMC Article
    3. HLF expression defines the human hematopoietic stem cell state. Lehnertz B, et al. Blood, 2021 Dec 23. PMID 34499717
    4. Decreased HLF Expression Predicts Poor Survival in Lung Adenocarcinoma. Wang Z, et al. Med Sci Monit, 2021 May 12. PMID 33979320, Free PMC Article
    5. Genetic Analysis Identifies the Role of HLF in Renal Cell Carcinoma. Huang CY, et al. Cancer Genomics Proteomics, 2020 Nov-Dec. PMID 33099483, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tensin 1 regulated by hepatic leukemia factor represses the progression of prostate cancer.
      Title: Tensin 1 regulated by hepatic leukemia factor represses the progression of prostate cancer.
    2. HLF promotes ovarian cancer progression and chemoresistance via regulating Hippo signaling pathway.
      Title: HLF promotes ovarian cancer progression and chemoresistance via regulating Hippo signaling pathway.
    3. m6A RNA methylation-mediated upregulation of HLF promotes intrahepatic cholangiocarcinoma progression by regulating the FZD4/beta-catenin signaling pathway.
      Title: m6A RNA methylation-mediated upregulation of HLF promotes intrahepatic cholangiocarcinoma progression by regulating the FZD4/β-catenin signaling pathway.
    4. CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis.
      Title: CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis.
    5. Integrative Molecular Analyses of an Individual Transcription Factor-Based Genomic Model for Lung Cancer Prognosis.
      Title: Integrative Molecular Analyses of an Individual Transcription Factor-Based Genomic Model for Lung Cancer Prognosis.
    6. HLF regulates ferroptosis, development and chemoresistance of triple-negative breast cancer by activating tumor cell-macrophage crosstalk.
      Title: HLF regulates ferroptosis, development and chemoresistance of triple-negative breast cancer by activating tumor cell-macrophage crosstalk.
    7. FLT3-ITD allelic ratio and HLF expression predict FLT3 inhibitor efficacy in adult AML.
      Title: FLT3-ITD allelic ratio and HLF expression predict FLT3 inhibitor efficacy in adult AML.
    8. HLF expression defines the human hematopoietic stem cell state.
      Title: HLF expression defines the human hematopoietic stem cell state.
    9. Genetic Analysis Identifies the Role of HLF in Renal Cell Carcinoma.
      Title: Genetic Analysis Identifies the Role of HLF in Renal Cell Carcinoma.
    10. Decreased HLF Expression Predicts Poor Survival in Lung Adenocarcinoma.
      Title: Decreased HLF Expression Predicts Poor Survival in Lung Adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33822

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    hepatic leukemia factor
    Names
    E2A-HLF fusion transcript protein
    HLF, PAR bZIP transcription factor
    PAR bZIP transcription factor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046944.1 RefSeqGene

      Range
      5001..65228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330375.2 → NP_001317304.1  hepatic leukemia factor isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC007638
      Consensus CDS
      CCDS82164.1
      UniProtKB/TrEMBL
      I3L4R4
      Related
      ENSP00000460296.1, ENST00000573945.5
      Conserved Domains (1) summary
      cd14695
      Location:139 → 198
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain

    2. NM_002126.5 → NP_002117.1  hepatic leukemia factor isoform 1

      See identical proteins and their annotated locations for NP_002117.1

      Status: REVIEWED

      Source sequence(s)
      AA021027, AC007638, AF035305, BC036093, DA104709, M95585
      Consensus CDS
      CCDS11585.1
      UniProtKB/Swiss-Prot
      A8K1X8, Q16534, Q6FHS9
      Related
      ENSP00000226067.5, ENST00000226067.10
      Conserved Domains (1) summary
      cd14695
      Location:224 → 283
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      55264960..55325187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257269.3 → XP_005257326.1  hepatic leukemia factor isoform X1

      See identical proteins and their annotated locations for XP_005257326.1

      Conserved Domains (1) summary
      cd14695
      Location:226 → 284
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain

    2. XM_047435895.1 → XP_047291851.1  hepatic leukemia factor isoform X2

      Related
      ENSP00000461455.1, ENST00000572002.1

    RNA

    1. XR_002957996.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      56139963..56200189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315913.1 → XP_054171888.1  hepatic leukemia factor isoform X1

    RNA

    1. XR_008484814.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16534.1 GenPept UniProtKB/Swiss-Prot:Q16534

    Gene LinkOut

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