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LHFP (lipoma HMGIC fusion partner)

Identity

HGNC LHFP
Location 13q12

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

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).
      

    External links

    Nomenclature
    HGNCLHFP   6586
    Entrez_GeneLHFP  10186  lipoma HMGIC fusion partner
    Cards
    AtlasLHFPID248ch13q12
    GeneCardsLHFP
    EnsemblLHFP [Search_View]   ENSG00000183722 [Gene_View]
    GenatlasLHFP
    GeneLynxLHFP
    eGenomeLHFP
    euGene10186
    Genomic and cartography
    GoldenPathLHFP  -  13q12   chr13:38815029-39075356 -  13q12   [Description]    (hg18-Mar_2006)
    EnsemblLHFP - 13q12 [CytoView]
    NCBIMapview
    OMIMDisease map [OMIM]
    HomoloGeneLHFP
    Gene and transcription
    GenbankAF098807 [ ENTREZ ]
    GenbankAK129819 [ ENTREZ ]
    GenbankAK223369 [ ENTREZ ]
    GenbankAK313036 [ ENTREZ ]
    GenbankAL137388 [ ENTREZ ]
    RefSeqNM_005780 [ SRS ]    NM_005780 [ ENTREZ ]
    RefSeqAC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
    RefSeqAC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
    RefSeqNC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
    RefSeqNT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
    RefSeqNW_001838073 [ SRS ]    NW_001838073 [ ENTREZ ]
    RefSeqNW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
    AceViewLHFP AceView - NCBI
    UnigeneHs.507798 [ SRS ]    Hs.507798 [ NCBI ]     HS507798 [ spliceNest ]
    Fast-db3776 (alternative variants)
    Protein : pattern, domain, 3D structure
    SwissProtQ9Y693 [ SRS]    Q9Y693 [ EXPASY ]     Q9Y693 [ INTERPRO ]     Q9Y693 [ UNIPROT ]
    CluSTrQ9Y693
    BlocksQ9Y693
    HPRD09464
    Protein Interaction databases
    DIPQ9Y693
    IntActQ9Y693
    Polymorphism : SNP, mutations, diseases
    OMIM606710    [ map ]   
    GENECLINICS606710
    SNPLHFP [dbSNP-NCBI]  
    SNPNM_005780 [SNP-NCI]  
    SNPLHFP [GeneSNPs - Utah]  LHFP] [HGBASE - SRS]
    HAPMAPLHFP [HAPMAP]  
    COSMICLHFP [Somatic mutation (COSMIC-CGP-Sanger)]  
    HGMDLHFP
    General knowledge
    Family BrowserLHFP [UCSC Family Browser]
    SOURCENM_005780
    SMDHs.507798
    SAGEHs.507798
    GODNA binding [Amigo]  DNA binding
    GOmembrane [Amigo]  membrane
    GOintegral to membrane [Amigo]  integral to membrane
    PubGeneLHFP
    TreeFamLHFP
    CTD10186 [Comparative ToxicoGenomics Database]
    Other databases
    Probes
    ProbeLHFP Related clones (RZPD - Berlin)
    PubMed
    PubMed8 Pubmed reference(s) in LocusLink

    Bibliography

    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
     
    Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors.
    DahlˆŠn A, Debiec-Rychter M, Pedeutour F, Domanski HA, Hˆglund 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
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    Contributor(s)

    Written01-2005Marleen Petit

    Citation

    This paper should be referenced as such :
    Petit MM . LHFP (lipoma HMGIC fusion partner). Atlas Genet Cytogenet Oncol Haematol. January 2005 .
    URL : http://AtlasGeneticsOncology.org/Genes/LHFPID248ch13q12.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon Aug 11 21:15:02 2008


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