Aliases for LELP1 Gene

Aliases for LELP1 Gene

  • Late Cornified Envelope Like Proline Rich 1 2 3 5
  • Late Cornified Envelope-Like Proline-Rich Protein 1 3 4
  • Novel Small Proline Rich Protein 3
  • Novel Small Proline-Rich Protein 4

External Ids for LELP1 Gene

Previous GeneCards Identifiers for LELP1 Gene

  • GC01P149989
  • GC01P151442
  • GC01P124538

Summaries for LELP1 Gene

GeneCards Summary for LELP1 Gene

LELP1 (Late Cornified Envelope Like Proline Rich 1) is a Protein Coding gene. Diseases associated with LELP1 include Skin Disease. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is C1orf68.

Additional gene information for LELP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LELP1 Gene

Genomics for LELP1 Gene

GeneHancer (GH) Regulatory Elements for LELP1 Gene

Promoters and enhancers for LELP1 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
GH01J153203 Promoter 0.3 EPDnew 500.7 0.0 -19 0.1 LELP1 PRR9 HSALNG0007273
GH01J153231 Enhancer 0.8 Ensembl ENCODE 10.8 +27.8 27776 6.4 CTCF ESRRA NR2C1 NR2F1 ZNF654 NFATC3 NFIB RAD21 TBX21 HNF4A PRR9 LORICRIN LELP1 SMCP SPRR2G ENSG00000230779 lnc-LOR-4
GH01J153122 Enhancer 0.9 ENCODE 9.5 -79.8 -79830 2.5 ZNF217 ZFX ZIC2 ZBTB10 TRIM28 RFX1 EP300 GATAD2B CTBP1 HDAC2 piR-50968-009 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F
GH01J153094 Promoter 0.3 EPDnew 9.6 -108.9 -108885 0.1 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F
GH01J153251 Enhancer 0.2 Ensembl 10 +48.1 48071 0.6 PRR9 LELP1 HSALNG0007276 lnc-LOR-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LELP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LELP1

Top Transcription factor binding sites by QIAGEN in the LELP1 gene promoter:
  • aMEF-2
  • AML1a
  • ATF6
  • GATA-1
  • Ik-1
  • MEF-2A
  • POU3F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for LELP1 Gene

Genomic Locations for LELP1 Gene
chr1:153,203,430-153,205,125
(GRCh38/hg38)
Size:
1,696 bases
Orientation:
Plus strand
chr1:153,175,919-153,177,596
(GRCh37/hg19)
Size:
1,678 bases
Orientation:
Plus strand

Genomic View for LELP1 Gene

Genes around LELP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LELP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LELP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LELP1 Gene

Proteins for LELP1 Gene

  • Protein details for LELP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T871-LELP1_HUMAN
    Recommended name:
    Late cornified envelope-like proline-rich protein 1
    Protein Accession:
    Q5T871
    Secondary Accessions:
    • A1L4E1

    Protein attributes for LELP1 Gene

    Size:
    98 amino acids
    Molecular mass:
    10697 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LELP1 Gene

Post-translational modifications for LELP1 Gene

No Post-translational modifications

Other Protein References for LELP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LELP1 Gene

Domains & Families for LELP1 Gene

Gene Families for LELP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LELP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LELP1 Gene

GenScript: Design optimal peptide antigens:
  • Novel small proline-rich protein (LELP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T871

UniProtKB/Swiss-Prot:

LELP1_HUMAN :
  • Belongs to the cornifin (SPRR) family.
Family:
  • Belongs to the cornifin (SPRR) family.
genes like me logo Genes that share domains with LELP1: view

Function for LELP1 Gene

Phenotypes From GWAS Catalog for LELP1 Gene

Phenotypes for LELP1 Gene

genes like me logo Genes that share phenotypes with LELP1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LELP1 Gene

Localization for LELP1 Gene

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 LELP1 gene
Compartment Confidence
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LELP1 Gene

Pathways & Interactions for LELP1 Gene

PathCards logo

SuperPathways for LELP1 Gene

genes like me logo Genes that share pathways with LELP1: view

Pathways by source for LELP1 Gene

Interacting Proteins for LELP1 Gene

;

Gene Ontology (GO) - Biological Process for LELP1 Gene

None

No data available for SIGNOR curated interactions for LELP1 Gene

Drugs & Compounds for LELP1 Gene

(5) Drugs for LELP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with LELP1: view

Transcripts for LELP1 Gene

mRNA/cDNA for LELP1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LELP1 Gene

No ASD Table

Relevant External Links for LELP1 Gene

GeneLoc Exon Structure for
LELP1

Expression for LELP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LELP1 Gene

mRNA differential expression in normal tissues according to GTEx for LELP1 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for LELP1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LELP1 Gene



Protein tissue co-expression partners for LELP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LELP1

SOURCE GeneReport for Unigene cluster for LELP1 Gene:

Hs.125785
genes like me logo Genes that share expression patterns with LELP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LELP1 Gene

Orthologs for LELP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LELP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LELP1 31 30
  • 98.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LELP1 31
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lelp1 31
  • 49 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LELP1 31
  • 48 (a)
OneToOne
Species where no ortholog for LELP1 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LELP1 Gene

ENSEMBL:
Gene Tree for LELP1 (if available)
TreeFam:
Gene Tree for LELP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LELP1: view image

Paralogs for LELP1 Gene

genes like me logo Genes that share paralogs with LELP1: view

Variants for LELP1 Gene

Additional dbSNP identifiers (rs#s) for LELP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LELP1 Gene

Variant ID Type Subtype PubMed ID
nsv1004168 CNV loss 25217958
nsv2932 CNV insertion 18451855
nsv547899 CNV gain 21841781

Variation tolerance for LELP1 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LELP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LELP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LELP1 Gene

Disorders for LELP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LELP1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
skin disease
  • genodermatosis
- elite association - COSMIC cancer census association via MalaCards
Search LELP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LELP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LELP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LELP1 Gene

Publications for LELP1 Gene

  1. Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels. (PMID: 17387579) Sharma M … Ghosh B (Journal of human genetics 2007) 3 23 41 54
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  3. 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 54
  4. Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype. (PMID: 27304082) Trzeciak M … Pawelczyk T (Acta dermato-venereologica 2017) 3 54
  5. Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis. (PMID: 26608070) Trzeciak M … Pawelczyk T (Acta dermato-venereologica 2016) 3 54

Products for LELP1 Gene

Sources for LELP1 Gene