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Aliases for LHFPL3 Gene

Aliases for LHFPL3 Gene

  • Lipoma HMGIC Fusion Partner-Like 3 2 3 5
  • Lipoma HMGIC Fusion Partner-Like 4 2 3
  • LHFPL4 3 4
  • LHFP-Like Protein 3 3

External Ids for LHFPL3 Gene

Previous HGNC Symbols for LHFPL3 Gene

  • LHFPL4

Previous GeneCards Identifiers for LHFPL3 Gene

  • GC00U990471
  • GC07P103529
  • GC07P103563
  • GC07P103756
  • GC07P103969
  • GC07P098328

Summaries for LHFPL3 Gene

Entrez Gene Summary for LHFPL3 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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for LHFPL3 Gene

LHFPL3 (Lipoma HMGIC Fusion Partner-Like 3) is a Protein Coding gene. Diseases associated with LHFPL3 include lipoma. An important paralog of this gene is LHFPL2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHFPL3 Gene

Genomics for LHFPL3 Gene

Regulatory Elements for LHFPL3 Gene

Genomic Location for LHFPL3 Gene

Chromosome:
7
Start:
104,328,656 bp from pter
End:
104,908,558 bp from pter
Size:
579,903 bases
Orientation:
Plus strand

Genomic View for LHFPL3 Gene

Genes around LHFPL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHFPL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHFPL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHFPL3 Gene

Proteins for LHFPL3 Gene

  • Protein details for LHFPL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UP9-LHPL3_HUMAN
    Recommended name:
    Lipoma HMGIC fusion partner-like 3 protein
    Protein Accession:
    Q86UP9
    Secondary Accessions:
    • A1L383
    • A4D0Q5

    Protein attributes for LHFPL3 Gene

    Size:
    236 amino acids
    Molecular mass:
    25769 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LHFPL3 Gene

Proteomics data for LHFPL3 Gene at MOPED

Post-translational modifications for LHFPL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHFPL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LHFPL3 Gene

Domains & Families for LHFPL3 Gene

Protein Domains for LHFPL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UP9

UniProtKB/Swiss-Prot:

LHPL3_HUMAN :
  • Belongs to the LHFP family.
Family:
  • Belongs to the LHFP family.
genes like me logo Genes that share domains with LHFPL3: view

No data available for Gene Families for LHFPL3 Gene

Function for LHFPL3 Gene

Molecular function for LHFPL3 Gene

GENATLAS Biochemistry:
lipoma HMGIC (high mobility group I C protein) fusion partner like gene 3

Phenotypes for LHFPL3 Gene

genes like me logo Genes that share phenotypes with LHFPL3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LHFPL3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LHFPL3 Gene

Localization for LHFPL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHFPL3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LHFPL3 Gene COMPARTMENTS Subcellular localization image for LHFPL3 gene
Compartment Confidence
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for LHFPL3 Gene

Pathways & Interactions for LHFPL3 Gene

SuperPathways for LHFPL3 Gene

No Data Available

Interacting Proteins for LHFPL3 Gene

Gene Ontology (GO) - Biological Process for LHFPL3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LHFPL3 Gene

Drugs & Compounds for LHFPL3 Gene

No Compound Related Data Available

Transcripts for LHFPL3 Gene

mRNA/cDNA for LHFPL3 Gene

Unigene Clusters for LHFPL3 Gene

Lipoma HMGIC fusion partner-like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LHFPL3 Gene

No ASD Table

Relevant External Links for LHFPL3 Gene

GeneLoc Exon Structure for
LHFPL3
ECgene alternative splicing isoforms for
LHFPL3

Expression for LHFPL3 Gene

mRNA expression in normal human tissues for LHFPL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHFPL3 Gene

This gene is overexpressed in Brain - Amygdala (x6.1), Brain - Putamen (basal ganglia) (x6.0), Brain - Nucleus accumbens (basal ganglia) (x6.0), Brain - Caudate (basal ganglia) (x5.5), Brain - Substantia nigra (x4.9), and Brain - Hypothalamus (x4.6).

Protein differential expression in normal tissues from HIPED for LHFPL3 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LHFPL3 Gene



SOURCE GeneReport for Unigene cluster for LHFPL3 Gene Hs.659164

genes like me logo Genes that share expression patterns with LHFPL3: view

Protein tissue co-expression partners for LHFPL3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LHFPL3 Gene

Orthologs for LHFPL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHFPL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LHFPL3 35
  • 99.72 (n)
  • 99.57 (a)
LHFPL3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LHFPL3 36
  • 95 (a)
OneToOne
LHFPL3 35
  • 97.45 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia LHFPL3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lhfpl3 16
Lhfpl3 35
  • 95.55 (n)
  • 99.57 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia LHFPL3 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lhfpl3 35
  • 95.85 (n)
  • 99.57 (a)
lizard
(Anolis carolinensis)
Reptilia LHFPL3 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl3 35
  • 79.42 (n)
  • 89.4 (a)
zebrafish
(Danio rerio)
Actinopterygii lhfpl3 36
  • 78 (a)
OneToOne
lhfpl3 35
  • 75.59 (n)
  • 80.75 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005724 35
  • 53.7 (n)
  • 42.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tmhs 36
  • 31 (a)
OneToMany
Tmhs 35
  • 54.33 (n)
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea F26D10.11 36
  • 25 (a)
OneToMany
Species with no ortholog for LHFPL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for LHFPL3 Gene

ENSEMBL:
Gene Tree for LHFPL3 (if available)
TreeFam:
Gene Tree for LHFPL3 (if available)

Paralogs for LHFPL3 Gene

Paralogs for LHFPL3 Gene

(3) SIMAP similar genes for LHFPL3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LHFPL3: view

Variants for LHFPL3 Gene

Sequence variations from dbSNP and Humsavar for LHFPL3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs42182 -- 104,433,888(+) gtgcc(A/C)ggcac intron-variant
rs41015 -- 104,494,884(+) CAAAT(A/C)CTAGA intron-variant
rs41016 -- 104,494,979(+) TTTCC(A/G)CTTCC intron-variant
rs41022 -- 104,498,022(+) TGGGG(C/T)GGAAC intron-variant
rs41023 -- 104,498,238(+) TGTGG(A/C)TATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LHFPL3 Gene

Variant ID Type Subtype PubMed ID
nsv510104 CNV Loss 20534489
nsv522695 CNV Loss 19592680
nsv888925 CNV Loss 21882294
esv269357 CNV Insertion 20981092
esv2734959 CNV Deletion 23290073
esv2734960 CNV Deletion 23290073
esv995457 CNV Deletion 20482838
esv1092690 CNV Deletion 17803354
nsv888926 CNV Loss 21882294
esv2734962 CNV Deletion 23290073
esv2519592 CNV Deletion 19546169
esv2308211 CNV Deletion 18987734
esv1003973 CNV Deletion 20482838
esv3597 CNV Deletion 18987735
esv2734963 CNV Deletion 23290073
esv1338796 CNV Deletion 17803354
esv5739 CNV Loss 19470904
esv989774 CNV Insertion 20482838
nsv510105 CNV Loss 20534489
nsv516749 CNV Loss 19592680
nsv5887 CNV Loss 18451855
dgv425n21 CNV Gain 19592680
nsv831086 CNV Loss 17160897
esv2734964 CNV Deletion 23290073
esv2660132 CNV Deletion 23128226
nsv436902 CNV Insertion 17901297
nsv437560 CNV Loss 16327808
esv2626780 CNV Deletion 19546169
nsv8195 CNV Loss 18304495
esv2666844 CNV Deletion 23128226
nsv512917 CNV Insertion 21212237
esv27227 CNV Loss 19812545
nsv514436 CNV Loss 21397061
esv2543858 CNV Loss 19546169
nsv442092 CNV CNV 18776908
esv2422057 CNV Deletion 20811451
esv1111234 CNV Insertion 17803354
esv1706323 CNV Insertion 17803354
esv1256883 CNV Deletion 17803354
esv272859 CNV Insertion 20981092
esv271050 CNV Insertion 20981092

Variation tolerance for LHFPL3 Gene

Gene Damage Index Score: 1.95; 36.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHFPL3 Gene

HapMap Linkage Disequilibrium report
LHFPL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL3 Gene

Disorders for LHFPL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LHFPL3 Gene - From: GeneCards

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

Relevant External Links for LHFPL3

Genetic Association Database (GAD)
LHFPL3
Human Genome Epidemiology (HuGE) Navigator
LHFPL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHFPL3
genes like me logo Genes that share disorders with LHFPL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LHFPL3 Gene

Publications for LHFPL3 Gene

  1. A genome-wide association study on obesity and obesity-related traits. (PMID: 21552555) Wang K. … Price R.A. (PLoS ONE 2011) 3 48 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. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. (PMID: 24564958) St Pourcain B. … Smith G.D. (Mol Autism 2014) 3
  5. GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. (PMID: 23722424) Rietveld C.A. … Koellinger P.D. (Science 2013) 3

Products for LHFPL3 Gene

Sources for LHFPL3 Gene

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