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LHFP (lipoma HMGIC fusion partner)

Written2005-01Marleen Petit
Laboratory for Molecular Oncology, Department of Human Genetics, University of Leuven (K.U.Leuven) & VIB, Herestraat 49, B-3000 Leuven, Belgium

(Note : for Links provided by Atlas : click)

Identity

Other alias
LocusID (NCBI) 10186
Atlas_Id 248
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

Description Exon-intron structure not described.
Transcription mRNA: ubiquitously: 2.4 kb; The ATG start codon is immediately preceded by an in-frame stop codon, and matches the most important positions of the Kozak consensus sequence; the 3'-UTR contains a CA-repeat.
Pseudogene No pseudogenes according to pseudogene.org.

Protein

  200 amino acids.
Description Database searches with the predicted LHFP amino acid sequences revealed no significant similarity to any known gene or protein or any known protein motif.
Expression Not known.
Localisation Not known.
Function Not known.
Homology LHFP is a member of a family of proteins, which contains 6 members: LHFP, LHFPL1, LHFPL2, LHFPL3, LHFPL4, LHFPL5.

Mutations

Somatic HMGA2/LHFP fusion gene encoding the three DNA-binding domains of HMGA2 followed by 69 amino acids encoded by frame-shifted LHFP sequences.

Implicated in

Note
  
Entity Solitary lipomas.
Disease Benign tumors of adipose tissue
Prognosis Can be surgically removed with no recurrence in most cases.
Cytogenetics More than 60% of solitary lipomas have an aberrant karyotype: 2/3 of these carry 12q15 rearrangements, most often translocations, affecting the HMGA2 gene:
  • 1/4 of the latter have chromosomal region 3q27-q28 (containing LPP) as 12q15 translocation partner (creating a HMGA2/LPP fusion gene).
  • In the 3/4 others, multiple chromosomes have been found as translocation partner of 12q15, one of these being chromosomal region 13q12 (containing, amongst others, the LHFP gene).
  • Hybrid/Mutated Gene HMGA2/LHFP hybrid gene containing the first three exons of HMGA2, which are followed by exon(s) of LHFP; under the regulation of the HMGA2 promoter.
    Abnormal Protein No known LHFP fusion protein. (HMGA2/LHFP fusion transcripts encode the three DNA-binding domains of HMGA2 followed by 69 amino acids encoded by frame-shifted LHFP sequences).
      

    Bibliography

    Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors.
    Dahlén A, Debiec-Rychter M, Pedeutour F, Domanski HA, Höglund M, Bauer HC, Rydholm A, Sciot R, Mandahl N, Mertens F
    International journal of cancer. Journal international du cancer. 2003 ; 103 (5) : 616-623.
    PMID 12494468
     
    LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes.
    Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ
    Genomics. 1999 ; 57 (3) : 438-441.
    PMID 10329012
     
    Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13 through 15 and 13q12 through q14.
    Rogalla P, Lemke I, Bullerdiek J
    Cancer genetics and cytogenetics. 2002 ; 133 (1) : 90-93.
    PMID 11890997
     

    Citation

    This paper should be referenced as such :
    Petit, MM
    LHFP (lipoma HMGIC fusion partner)
    Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):17-18.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/LHFPID248ch13q12.html


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
      Soft Tissues: Lipoma / benign lipomatous tumors
    Soft Tissues: Ordinary lipoma with t(1;12)(p32;q14) HMGA2/PPAP2B
    Soft tissue tumors: an overview


    External links

    Nomenclature
    Cards
    AtlasLHFPID248ch13q12.txt
    Aliases
    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)10186
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    Miscellaneous
    canSAR (ICR) (select the gene name)
    Probes
    Litterature
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed


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    indexed on : Tue Nov 21 14:54:30 CET 2017

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