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LHFPL1 Gene

protein-coding   GIFtS: 46
GCID: GC0XM111873

Lipoma HMGIC Fusion Partner-Like 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lipoma HMGIC Fusion Partner-Like 11 2
LHFP-Like Protein 12
Lipoma HMGIC Fusion Partner-Like 1 Protein2

External Ids:    HGNC: 65871   Entrez Gene: 3405962   Ensembl: ENSG000001825087   OMIM: 3005665   UniProtKB: Q86WI03   

Export aliases for LHFPL1 gene to outside databases

Previous GC identifers: GC0XU990281 GC0XM109898 GC0XM110637 GC0XM111680 GC0XM101497


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LHFPL1 Gene:
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily
of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans
and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated
lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been
determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for LHFPL1 Gene:
LHFPL1 (lipoma HMGIC fusion partner-like 1) is a protein-coding gene. An important paralog of this gene is LHFPL5.

Gene Wiki entry for LHFPL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LHFPL1 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   AML1a   Nkx3-1 v1   Nkx3-1 v2   c-Rel   CP2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLHFPL1 promoter sequence
   Search Chromatin IP Primers for LHFPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LHFPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq23

LHFPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LHFPL1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM111873:  view genomic region     (about GC identifiers)

Start:
111,873,876 bp from pter      End:
111,923,375 bp from pter
Size:
49,500 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LHPL1_HUMAN, Q86WI0 (See protein sequence)
Recommended Name: Lipoma HMGIC fusion partner-like 1 protein precursor  
Size: 220 amino acids; 23777 Da
Sequence caution: Sequence=AAQ88575.1; Type=Erroneous initiation;
Secondary accessions: A8K1N1 Q496M9 Q496N0 Q6UXU2
Alternative splicing: 3 isoforms:  Q86WI0-1   Q86WI0-2   Q86WI0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LHFPL1: NX_Q86WI0

Explore proteomics data for LHFPL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn153

  • See LHFPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_835469.1  
    ENSEMBL proteins: 
     ENSP00000361036   ENSP00000444573  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019372 Lipome_HGMIC_fus_partner-like

    Graphical View of Domain Structure for InterPro Entry Q86WI0

    ProtoNet protein and cluster: Q86WI0

    UniProtKB/Swiss-Prot: LHPL1_HUMAN, Q86WI0
    Similarity: Belongs to the LHFP family


    Find genes that share domains with LHFPL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for LHFPL1:
    lipoma HMGIC (high mobility group I C protein) fusion partner like gene 1

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for LHFPL1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LHPL1_HUMAN, Q86WI0: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with LHFPL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LHFPL1
    Interactions:

        Search GeneGlobe Interaction Network for LHFPL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LHFPL1 (LHPL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LHFPL1 gene: 
    NM_178175.3  

    Unigene Cluster for LHFPL1:

    Lipoma HMGIC fusion partner-like 1
    Hs.297420  [show with all ESTs]
    Unigene Representative Sequence: NM_178175
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371968(uc004epp.3 uc004epq.3) ENST00000478229 ENST00000536453(uc010nqa.3 uc010nqb.3)

    miRNA
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    hsa-miR-3662 hsa-miR-1260b hsa-miR-3914 hsa-miR-1260
    SwitchGear 3'UTR luciferase reporter plasmidLHFPL1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat LHFPL1

    Additional mRNA sequence: 

    AK289946.1 AY217350.1 AY358208.1 BC100785.2 BC100786.1 BC100787.2 

    2 DOTS entries:

    DT.40296752  DT.101963492 

    16 AceView cDNA sequences:

    BX090794 NM_178175 AY358208 AI283133 AY217350 AA491054 AA490870 CA489641 
    AA490819 AI806910 H68236 BF510126 BF510559 BF509271 BF508803 H68596 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:                    -                 -                     
    SP2:              -     -                 -                     
    SP3:                                      -                     
    SP4:                    -           -     -                     
    SP5:                    -     -     -                           


    ECgene alternative splicing isoforms for LHFPL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LHFPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACAGTGA
    LHFPL1 Expression
    About this image

    LHFPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LHFPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.297420

    UniProtKB/Swiss-Prot: LHPL1_HUMAN, Q86WI0
    Tissue specificity: Widely expressed. Expressed at high levels in lung, thymus, skeletal muscle, colon and ovary

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for LHFPL1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lhfpl11 , 5 lipoma HMGIC fusion partner-like 11, 5 90.91(n)1
    94.55(a)1
      X (66.54 cM)5
    2370911  NM_178358.31  NP_848135.11 
     1452903595 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    17(a)
    many ↔ many
    1(206001639-206011792)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lhfpl11 lipoma HMGIC fusion partner-like 1 70.09(n)
    73.33(a)
      100494122  XM_002938786.2  XP_002938832.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lhfp6
    CABZ01040571.16
    Uncharacterized protein
    64(a)
    59(a)
    many ↔ many
    many ↔ many
    10(32906129-32993054) ENSDARG00000004363
    16(6241618-6242010) ENSDARG00000090719


    ENSEMBL Gene Tree for LHFPL1 (if available)
    TreeFam Gene Tree for LHFPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LHFPL1 gene
    LHFPL52  LHFPL32  LHFPL42  LHFPL22  LHFP2  
    1 SIMAP similar gene for LHFPL1 using alignment to 1 protein entry:     LHPL1_HUMAN:
    LHFP

    Find genes that share paralogs with LHFPL1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LHFPL1 (see all 680)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1501302911,2
    --111853491(+) GATAGC/TATATA 1 -- ds50010--------
    rs1124477691,2
    C,F--111853593(+) GCTGGA/CCTTTT 1 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1928309271,2
    --111853804(+) TTCTTC/TTGTGG 1 -- ds50010--------
    rs413044841,2
    C,F--111853886(+) CATTAG/AGAGTG 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs1839661001,2
    --111853931(+) AGTCAA/GTAAAA 1 -- ds50010--------
    rs413002631,2
    C--111854009(+) AAATTC/TATTGA 1 -- ut310--------
    rs1882548481,2
    --111854145(+) GAACTC/TCTATG 1 -- ut310--------
    rs1820319891,2
    --111854241(+) CTCCCC/TCGCTC 1 -- ut310--------
    rs413009021,2
    C--111854271(+) GGTGCA/GGGGGG 1 -- ut310--------
    rs1848299451,2
    --111854333(+) AAATTC/GAGCAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for LHFPL1 (111873876 - 111923375 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for LHFPL1: --
    Locus Specific Mutation Databases (LSDB): LHFPL1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LHFPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for LHFPL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300566    OMIM disorders: --


    Find genes that share disorders with LHFPL1           About GenesLikeMe

    Genetic Association Database (GAD): LHFPL1

    Export disorders for LHFPL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LHFPL1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with LHFPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1. (PubMed id 15620218)1, 2, 9 Huang C.... Yu L. (DNA Seq. 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    4. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. (PubMed id 10329012)1, 3 Petit M.M.R.... Van de Ven W.J.M. (Genomics 1999)
    5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)4 O'Donnell C.J....Demissie S. (BMC Med. Genet. 2007)
    6. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. (PubMed id 15905332)1 Longo-Guess C.M....Johnson K.R. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 340596 HGNC: 6587 AceView: LHFPL1 Ensembl:ENSG00000182508 euGenes: HUgn340596
    ECgene: LHFPL1 H-InvDB: LHFPL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LHFPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LHFPL1 gene:
    Search GeneIP for patents involving LHFPL1

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Block miRNA regulation of human, mouse, rat LHFPL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing LHFPL1
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