1. Gene
  2. HLF - HLF transcription factor, PAR bZIP family member Gene

HLF - HLF transcription factor, PAR bZIP family member Gene

Homo sapiens
Gene ID: 3131 | Gene type: protein coding

About HLF

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:55,264,960-55,325,187 (from NCBI)

This gene has 11 transcripts (splice variants), 262 orthologues, 2 paralogues and is associated with 62 phenotypes. Broad expression in liver (RPKM 22.6), brain (RPKM 22.4) and 18 other tissues.

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]

HLF Products(2)

mRNA Protein Name
NM_001330375.2 NP_001317304.1 hepatic leukemia factor isoform 2
NM_002126.5 NP_002117.1 hepatic leukemia factor isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
8065331 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
8065331 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20102225 GOA
enables sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
8065331 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
8065331 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase II transcription regulator complex IPI
IPI: Inferred from physical interaction
23661758 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HLF Protein Structure

bZIP_2

bZIP_2: Basic region leucine zipper (224 - 277)

  • 0
  • 100
  • 200
  • 295 a.a.
Protein Preferred Names Protein Names

hepatic leukemia factor

E2A-HLF fusion transcript protein

Related Diseases

Diseases Alias
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Partial Motor Epilepsy

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Erythrocytosis, Familial, 1

ECYT1

Pfcp

Primary Familial And Congenital Polycythemia

Familial Erythrocytosis 1

Familial Erythrocytosis

Polycythemia, Primary Familial And Congenital

Autosomal Dominant Benign Erythrocytosis

Familial Erythrocytosis Type 1

Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

Congenital Polycythemia Due To Erythropoietin Receptor Mutation

Primary Congenital Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Autosomal Dominant Benign

Erythrocytosis, Somatic

Autosomal Dominant Familial Erythrocytosis-1

Erythrocytosis Autosomal Dominant Benign

Familial Primary Polycythemia

Familial Erythrocytosis, 1

Erythrocytosis, Familial, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus HLF MGD MGI:96108
Bos taurus HLF VGNC VGNC:50275
Rattus norvegicus HLF RGD RGD:1582828
Macaca mulatta HLF VGNC VGNC:73478
Canis familiaris HLF VGNC VGNC:49094
Felis catus HLF VGNC VGNC:67589