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

Gene ID: 3131, updated on 21-Oct-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
109.20190905 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 Functions

What'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
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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..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/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 109.20190905

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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