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Aliases for LHFPL1 Gene

Aliases for LHFPL1 Gene

  • LHFPL Tetraspan Subfamily Member 1 2 3 5
  • Lipoma HMGIC Fusion Partner-Like 1 Protein 3 4
  • Lipoma HMGIC Fusion Partner Like 1 2 3
  • LHFPL Tetraspan Subfamily Member 1 Protein 3
  • LHFP-Like Protein 1 3

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 (LHFPL Tetraspan Subfamily Member 1) is a Protein Coding gene. An important paralog of this gene is LHFPL6.

Gene Wiki entry for LHFPL1 Gene

Additional gene information for LHFPL1 Gene

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

Genomics for LHFPL1 Gene

GeneHancer (GH) Regulatory Elements for LHFPL1 Gene

Promoters and enhancers for LHFPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ112678 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.4 424 2.8 ZSCAN4 STAT5A EBF1 E2F1 POLR2A NFATC1 ZSCAN29 IKZF2 RUNX3 TCF7L2 LHFPL1 AMOT ENSG00000200436 GC0XP112625
GH0XJ112719 Promoter 0.5 EPDnew 650.3 -38.9 -38943 0.1 LHFPL1 HMGB3P30 PIR32378 GC0XP112625
GH0XJ112642 Enhancer 0.5 ENCODE 12.6 +37.6 37630 0.2 CTCF ZNF654 TRIM22 SMC3 REST RAD21 LHFPL1 GC0XP112662 GC0XP112625
GH0XJ112734 Enhancer 0.3 Ensembl 12.3 -54.3 -54322 0.2 SPI1 LHFPL1 AMOT HMGB3P30 PIR32378 GC0XP112625
GH0XJ112706 Enhancer 0.2 FANTOM5 12.3 -26.3 -26304 0 LHFPL1 HMGB3P30 PIR32378 GC0XP112625
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LHFPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LHFPL1 gene promoter:
  • TBP
  • AML1a
  • CP2
  • c-Rel
  • Nkx3-1 v2
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for LHFPL1 Gene

Genomic Locations for LHFPL1 Gene
chrX:112,625,637-112,680,178
(GRCh38/hg38)
Size:
54,542 bases
Orientation:
Minus strand
chrX:111,873,876-111,923,375
(GRCh37/hg19)
Size:
49,500 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:
    LHFPL tetraspan subfamily member 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

Post-translational modifications for LHFPL1 Gene

Other Protein References for LHFPL1 Gene

No data available for DME Specific Peptides for LHFPL1 Gene

Domains & Families for LHFPL1 Gene

Gene Families for LHFPL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LHFPL1 Gene

InterPro:
ProtoNet:

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

Function for LHFPL1 Gene

Molecular function for LHFPL1 Gene

GENATLAS Biochemistry:
lipoma HMGIC (high mobility group I C protein) fusion partner like gene 1
genes like me logo Genes that share phenotypes with LHFPL1: view

Animal Models for LHFPL1 Gene

MGI Knock Outs for LHFPL1:
  • Lhfpl1 Lhfpl1<tm1.1(NCOM)Mfgc>

Animal Model Products

  • Taconic Biosciences Mouse Models for LHFPL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LHFPL1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LHFPL1 gene
Compartment Confidence
plasma membrane 2
extracellular 2

Gene Ontology (GO) - Cellular Components for LHFPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LHFPL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

(6) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LHFPL1 Gene

Lipoma HMGIC fusion partner-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LHFPL1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of LHFPL1 Gene:

LHFPL1

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.

Evidence on tissue expression from TISSUES for LHFPL1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with LHFPL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LHFPL1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LHFPL1 34 33
  • 95.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LHFPL1 34 33
  • 94.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lhfpl1 16 34 33
  • 90.91 (n)
rat
(Rattus norvegicus)
Mammalia Lhfpl1 33
  • 90 (n)
oppossum
(Monodelphis domestica)
Mammalia LHFPL1 34
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 17 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lhfpl1 33
  • 70.09 (n)
zebrafish
(Danio rerio)
Actinopterygii lhfp 34
  • 64 (a)
ManyToMany
CABZ01040571.1 34
  • 59 (a)
ManyToMany
Species where no ortholog for LHFPL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LHFPL1: view image

Paralogs for LHFPL1 Gene

Paralogs for LHFPL1 Gene

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

  • LHPL1_HUMAN
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 Variation AA Info Type
rs1000011519 -- 112,633,350(-) C/A intron_variant
rs1000031867 -- 112,643,391(-) A/G intron_variant
rs1000050467 -- 112,676,590(-) C/T intron_variant
rs1000103675 -- 112,642,813(-) T/A/C intron_variant
rs1000120920 -- 112,658,695(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LHFPL1 Gene

Variant ID Type Subtype PubMed ID
esv3361732 OTHER inversion 20981092
esv3559190 CNV deletion 23714750

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)

Additional Variant Information for LHFPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LHFPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHFPL1 Gene

Disorders for LHFPL1 Gene

Additional Disease Information for LHFPL1

No disorders were found for LHFPL1 Gene.

No data available for MalaCards , 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 sequence : the journal of DNA sequencing and mapping 2004) 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  4. 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 MM … Van de Ven WJ (Genomics 1999) 2 3 58
  5. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PMID: 17903301) Vasan RS … Benjamin EJ (BMC medical genetics 2007) 44 58

Products for LHFPL1 Gene

Sources for LHFPL1 Gene

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