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Aliases for LHFPL1 Gene

Aliases for LHFPL1 Gene

  • Lipoma HMGIC Fusion Partner-Like 1 2 3 5

External Ids for LHFPL1 Gene

Previous GeneCards Identifiers for LHFPL1 Gene

  • GC0XU990281
  • GC0XM109898
  • GC0XM110637
  • GC0XM111680
  • GC0XM111873
  • GC0XM101497

Summaries for LHFPL1 Gene

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. Diseases associated with LHFPL1 include lipoma. An important paralog of this gene is LHFPL3.

Gene Wiki entry for LHFPL1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL1 Gene

Genomics for LHFPL1 Gene

Regulatory Elements for LHFPL1 Gene

Enhancers for LHFPL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LHFPL1 on UCSC Golden Path with GeneCards custom track

Promoters for LHFPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LHFPL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LHFPL1 Gene

Chromosome:
X
Start:
112,625,637 bp from pter
End:
112,680,178 bp from pter
Size:
54,542 bases
Orientation:
Minus strand

Genomic View for LHFPL1 Gene

Genes around LHFPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL1 Gene

Proteins for LHFPL1 Gene

  • Protein details for LHFPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WI0-LHPL1_HUMAN
    Recommended name:
    Lipoma HMGIC fusion partner-like 1 protein
    Protein Accession:
    Q86WI0
    Secondary Accessions:
    • A8K1N1
    • Q496M9
    • Q496N0
    • Q6UXU2

    Protein attributes for LHFPL1 Gene

    Size:
    220 amino acids
    Molecular mass:
    23777 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88575.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LHFPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LHFPL1 Gene

Proteomics data for LHFPL1 Gene at MOPED

Post-translational modifications for LHFPL1 Gene

Other Protein References for LHFPL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL1 Gene

Domains & Families for LHFPL1 Gene

Protein Domains for LHFPL1 Gene

Suggested Antigen Peptide Sequences for LHFPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86WI0

UniProtKB/Swiss-Prot:

LHPL1_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL1: view

No data available for Gene Families for LHFPL1 Gene

Function for LHFPL1 Gene

Molecular function for LHFPL1 Gene

GENATLAS Biochemistry:
lipoma HMGIC (high mobility group I C protein) fusion partner like gene 1

Phenotypes for LHFPL1 Gene

genes like me logo Genes that share phenotypes with LHFPL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LHFPL1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LHFPL1 Gene

Localization for LHFPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LHFPL1 Gene COMPARTMENTS Subcellular localization image for LHFPL1 gene
Compartment Confidence
extracellular 2
plasma membrane 2

No data available for Gene Ontology (GO) - Cellular Components for LHFPL1 Gene

Pathways & Interactions for LHFPL1 Gene

SuperPathways for LHFPL1 Gene

No Data Available

Interacting Proteins for LHFPL1 Gene

Gene Ontology (GO) - Biological Process for LHFPL1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LHFPL1 Gene

Drugs & Compounds for LHFPL1 Gene

No Compound Related Data Available

Transcripts for LHFPL1 Gene

mRNA/cDNA for LHFPL1 Gene

Unigene Clusters for LHFPL1 Gene

Lipoma HMGIC fusion partner-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: - - - -

Relevant External Links for LHFPL1 Gene

GeneLoc Exon Structure for
LHFPL1
ECgene alternative splicing isoforms for
LHFPL1

Expression for LHFPL1 Gene

mRNA expression in normal human tissues for LHFPL1 Gene

mRNA differential expression in normal tissues according to GTEx for LHFPL1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.9), Brain - Caudate (basal ganglia) (x5.0), and Pituitary (x4.1).

SOURCE GeneReport for Unigene cluster for LHFPL1 Gene Hs.297420

mRNA Expression by UniProt/SwissProt for LHFPL1 Gene

Q86WI0-LHPL1_HUMAN
Tissue specificity: Widely expressed. Expressed at high levels in lung, thymus, skeletal muscle, colon and ovary.
genes like me logo Genes that share expression patterns with LHFPL1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for LHFPL1 Gene

Orthologs for LHFPL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LHFPL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LHFPL1 35
  • 94.39 (n)
  • 96.82 (a)
LHFPL1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LHFPL1 35
  • 95.3 (n)
  • 96.82 (a)
LHFPL1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lhfpl1 35
  • 90 (n)
  • 95.45 (a)
oppossum
(Monodelphis domestica)
Mammalia LHFPL1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lhfpl1 36
  • 95 (a)
OneToOne
Lhfpl1 16
Lhfpl1 35
  • 90.91 (n)
  • 94.55 (a)
chimpanzee
(Pan troglodytes)
Mammalia LHFPL1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 17 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl1 35
  • 70.09 (n)
  • 73.33 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01040571.1 36
  • 59 (a)
ManyToMany
lhfp 36
  • 64 (a)
ManyToMany
Species with no ortholog for LHFPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LHFPL1 Gene

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

Paralogs for LHFPL1 Gene

Paralogs for LHFPL1 Gene

(1) SIMAP similar genes for LHFPL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LHFPL1: view

Variants for LHFPL1 Gene

Sequence variations from dbSNP and Humsavar for LHFPL1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs747701091 -- 112,660,245(+) GTGTT(A/G)CATCT intron-variant
rs747712203 -- 112,662,342(+) GCTCT(A/G)GGGAC intron-variant
rs747740579 -- 112,664,985(+) ATCTT(-/G)GTCCT intron-variant
rs747744591 -- 112,670,470(+) TGCCA(C/G)ACAGG intron-variant
rs747747380 -- 112,637,405(+) AATGG(A/G)TCATG intron-variant

Variation tolerance for LHFPL1 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHFPL1 Gene

HapMap Linkage Disequilibrium report
LHFPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LHFPL1 Gene

Disorders for LHFPL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LHFPL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lipoma
  • benign lipomatous tumor
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LHFPL1

Genetic Association Database (GAD)
LHFPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL1
genes like me logo Genes that share disorders with LHFPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LHFPL1 Gene

Publications for LHFPL1 Gene

  1. Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1. (PMID: 15620218) Huang C. … Yu L. (DNA Seq. 2004) 3 4 23 67
  2. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. (PMID: 10329012) Petit M.M.R. … Van de Ven W.J.M. (Genomics 1999) 2 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. (PMID: 15905332) Longo-Guess C.M. … Johnson K.R. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for LHFPL1 Gene

Sources for LHFPL1 Gene

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