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

    Gene ID: 3131, updated on 9-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HLF in Genome Data Viewer
    Location:
    17q22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55264960..55325187)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56139963..56200189)
    RS_2024_09 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC33822

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330375.2NP_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: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
      A8K1X8, Q16534, Q6FHS9
      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: GCF_000001405.40-RS_2024_08

    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_005257269.3XP_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_047435895.1XP_047291851.1  hepatic leukemia factor isoform X2

      UniProtKB/TrEMBL
      I3L4R4
      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_054315913.1XP_054171888.1  hepatic leukemia factor isoform X1

    RNA

    1. XR_008484814.1 RNA Sequence