LELP1 Gene (Protein Coding)

Late Cornified Envelope Like Proline Rich 1

GC01P153175
GIFtS:
32
See more...

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
  • LELP1 5

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 LCE2C.

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 Pubs

Download GeneHancer 2017 data
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 250.7 0.0 -19 0.1 HSALNG0007274 LELP1 HSALNG0007273 SPRR2G
GH01J153231 Enhancer 0.8 Ensembl ENCODE 10.8 +27.8 27776 6.4 ZNF654 CTCF NR2C1 HNF4A NR2F1 NFIB RAD21 MNT FOS ESRRA PRR9 LORICRIN LELP1 SMCP SPRR2G HSALNG0007277 HSALNG0007278 RPLP0P4 HSALNG0007276
GH01J153122 Enhancer 0.9 ENCODE 9.5 -79.8 -79830 2.5 JUND POLR2A ZIC2 ZBTB10 ETS1 FEZF1 SIX4 ZNF341 MAX ZBTB7B piR-50968-009 SPRR2C SPRR2G LELP1 SPRR2B SPRR2F HSALNG0007267
GH01J153094 Promoter 0.3 EPDnew 9.6 -108.9 -108885 0.1 HSALNG0007268 SPRR2E SPRR2B SPRR2C LELP1 SPRR2F HSALNG0007267
GH01J153250 Enhancer 0.3 Ensembl 10 +47.3 47271 0.2 PAX8 LELP1 HSALNG0007280 LORICRIN lnc-LOR-4 HSALNG0007276 PRR9
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr1:153,203,430-153,205,120
(GRCh38/hg38)
Size:
1,691 bases
Orientation:
Plus strand

Previous Assembly
chr1:153,175,906-153,177,596
(GRCh37/hg19 by Entrez Gene)
Size:
1,691 bases
Orientation:
Plus strand

chr1:153,175,919-153,177,596
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for LELP1 Gene

Proteins for LELP1 Gene

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  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for LELP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

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

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for LELP1 Gene

Gene Ontology (GO) - Molecular Function for LELP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with LELP1: view

Phenotypes for LELP1 Gene

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

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LELP1

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Gene Ontology (GO) - Biological Process for LELP1 Gene

None

No data available for SIGNOR curated interactions for LELP1 Gene

Drugs & Compounds for LELP1 Gene

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  1. Drug products for research

(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

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LELP1

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

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for LELP1 Gene
mRNA expression by GTEx for LELP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Primer products for research

No data available for 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 29 30
  • 98.04 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LELP1 30
  • 61 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lelp1 30
  • 49 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LELP1 30
  • 48 (a)
 OneToOne
Species where no ortholog for LELP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for LELP1

Paralogs for LELP1 Gene

Paralogs for LELP1 Gene

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

Variants for LELP1 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LELP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
LELP1

SNP Genotyping and Copy Number Assays for research

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: COP

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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 22 40
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

ExternalLinks

View latest publications for LELP1 gene in Mastermind

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