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

    Gene ID: 3131, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See HLF in Genome Data Viewer
    Location:
    17q22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (55264960..55325187)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53342321..53402426)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene target of myb1 like 1 membrane trafficking protein Neighboring gene cytochrome c oxidase copper chaperone COX11 Neighboring gene syntaxin binding protein 4 Neighboring gene uncharacterized LOC107985002 Neighboring gene VISTA enhancer hs2291 Neighboring gene uncharacterized LOC101927367 Neighboring gene monocyte to macrophage differentiation associated

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC33822

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    hepatic leukemia factor
    Names
    HLF, PAR bZIP transcription factor
    PAR bZIP transcription factor

    NCBI Reference Sequences (RefSeq)

    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..65106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC007638
      Consensus CDS
      CCDS82164.1
      UniProtKB/Swiss-Prot
      Q16534
      Related
      ENSP00000460296.1, ENST00000573945.5
      Conserved Domains (1) summary
      cd14695
      Location:139198
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain
    2. NM_002126.5NP_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
      Q16534
      Related
      ENSP00000226067.5, ENST00000226067.10
      Conserved Domains (1) summary
      cd14695
      Location:224283
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_005257326.1

      Conserved Domains (1) summary
      cd14695
      Location:226284
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain
    2. XM_011524705.1XP_011523007.1  hepatic leukemia factor isoform X2

      Related
      ENSP00000461455.1, ENST00000572002.1
      Conserved Domains (1) summary
      cd14695
      Location:141199
      bZIP_HLF; Basic leucine zipper (bZIP) domain of Hepatic leukemia factor (HLF) and similar proteins: a DNA-binding and dimerization domain

    RNA

    1. XR_002957996.1 RNA Sequence

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