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Aliases for PRELP Gene

Aliases for PRELP Gene

  • Proline/Arginine-Rich End Leucine-Rich Repeat Protein 2 3 5
  • Proline-Arginine-Rich End Leucine-Rich Repeat Protein 3 4
  • Prolargin Proteoglycan 2 3
  • SLRR2A 3 4
  • 55 KDa Leucine-Rich Repeat Protein Of Articular Cartilage 3
  • Proline Arginine-Rich End Leucine-Rich Repeat Protein 2
  • MSTP161 3
  • MST161 3

External Ids for PRELP Gene

Previous GeneCards Identifiers for PRELP Gene

  • GC01M201269
  • GC01M199012
  • GC01P9D0034
  • GC00P9S0034
  • GC01P200176
  • GC01P201711
  • GC01P174609

Summaries for PRELP Gene

Entrez Gene Summary for PRELP Gene

  • The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRELP Gene

PRELP (Proline/Arginine-Rich End Leucine-Rich Repeat Protein) is a Protein Coding gene. Diseases associated with PRELP include hutchinson-gilford progeria and progeria. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is ECM2.

UniProtKB/Swiss-Prot for PRELP Gene

  • May anchor basement membranes to the underlying connective tissue.

Gene Wiki entry for PRELP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRELP Gene

Genomics for PRELP Gene

Regulatory Elements for PRELP Gene

Genomic Location for PRELP Gene

Chromosome:
1
Start:
203,475,755 bp from pter
End:
203,491,352 bp from pter
Size:
15,598 bases
Orientation:
Plus strand

Genomic View for PRELP Gene

Genes around PRELP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PRELP Gene

Proteins for PRELP Gene

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

    Protein Symbol:
    P51888-PRELP_HUMAN
    Recommended name:
    Prolargin
    Protein Accession:
    P51888
    Secondary Accessions:
    • Q6FG38

    Protein attributes for PRELP Gene

    Size:
    382 amino acids
    Molecular mass:
    43810 Da
    Quaternary structure:
    • Binds the basement membrane heparan sulfate proteoglycan perlecan and triple helical collagens type I and type II.

neXtProt entry for PRELP Gene

Proteomics data for PRELP Gene at MOPED

Post-translational modifications for PRELP Gene

  • Glycosylation at Asn 124, Asn 289, Asn 320, and Asn 327
  • Modification sites at PhosphoSitePlus

Other Protein References for PRELP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PRELP Gene

Domains & Families for PRELP Gene

Gene Families for PRELP Gene

Protein Domains for PRELP Gene

Graphical View of Domain Structure for InterPro Entry

P51888

UniProtKB/Swiss-Prot:

PRELP_HUMAN :
  • The basic N-terminal Arg/Pro-rich region binds heparin and heparan sulfate. Binds collagens type I and type II through its leucine-rich repeat domain (By similarity).
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
  • Contains 12 LRR (leucine-rich) repeats.
Domain:
  • The basic N-terminal Arg/Pro-rich region binds heparin and heparan sulfate. Binds collagens type I and type II through its leucine-rich repeat domain (By similarity).
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
Similarity:
  • Contains 12 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with PRELP: view

Function for PRELP Gene

Molecular function for PRELP Gene

GENATLAS Biochemistry:
prolargine,proline/arginine rich and leucine-rich repeat protein,matrix protein of articular cartilage,55 kDa,with three alternatively spliced forms,expressed in adult chondrocytes and lung
UniProtKB/Swiss-Prot Function:
May anchor basement membranes to the underlying connective tissue.
genes like me logo Genes that share phenotypes with PRELP: view

Animal Models for PRELP Gene

MGI Knock Outs for PRELP:

Animal Model Products

  • Taconic Biosciences Mouse Models for PRELP

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

Localization for PRELP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRELP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRELP Gene COMPARTMENTS Subcellular localization image for PRELP gene
Compartment Confidence
extracellular 5
golgi apparatus 5
lysosome 5
vacuole 5
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

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

Pathways & Interactions for PRELP Gene

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

Pathways by source for PRELP Gene

Gene Ontology (GO) - Biological Process for PRELP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018146 keratan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with PRELP: view

No data available for SIGNOR curated interactions for PRELP Gene

Drugs & Compounds for PRELP Gene

(3) Drugs for PRELP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PRELP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRELP: view

Transcripts for PRELP Gene

mRNA/cDNA for PRELP Gene

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

Unigene Clusters for PRELP Gene

Proline/arginine-rich end leucine-rich repeat protein:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3
SP1:
SP2: -

Relevant External Links for PRELP Gene

GeneLoc Exon Structure for
PRELP
ECgene alternative splicing isoforms for
PRELP

Expression for PRELP Gene

mRNA expression in normal human tissues for PRELP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Aorta (x7.0), Artery - Tibial (x6.6), and Artery - Coronary (x5.6).

Protein differential expression in normal tissues from HIPED for PRELP Gene

This gene is overexpressed in Adipocyte (9.5) and Prostate (6.6).

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



SOURCE GeneReport for Unigene cluster for PRELP Gene Hs.632481

mRNA Expression by UniProt/SwissProt for PRELP Gene

P51888-PRELP_HUMAN
Tissue specificity: Connective tissue.
genes like me logo Genes that share expression patterns with PRELP: view

Protein tissue co-expression partners for PRELP Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PRELP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRELP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRELP 35
  • 88.66 (n)
  • 92.6 (a)
PRELP 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRELP 35
  • 91.11 (n)
  • 94.29 (a)
PRELP 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prelp 35
  • 88.23 (n)
  • 92.88 (a)
Prelp 16
Prelp 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRELP 35
  • 99.56 (n)
  • 100 (a)
PRELP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prelp 35
  • 87.67 (n)
  • 92.9 (a)
oppossum
(Monodelphis domestica)
Mammalia PRELP 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRELP 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRELP 35
  • 79.24 (n)
  • 79.64 (a)
PRELP 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRELP 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prelp 35
  • 66.37 (n)
  • 69.64 (a)
zebrafish
(Danio rerio)
Actinopterygii prelp 35
  • 65.74 (n)
  • 62.46 (a)
prelp 36
  • 58 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for PRELP:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 PRELP Gene

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

Paralogs for PRELP Gene

Paralogs for PRELP Gene

(6) SIMAP similar genes for PRELP Gene using alignment to 2 proteins:

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

Variants for PRELP Gene

Sequence variations from dbSNP and Humsavar for PRELP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs9439 - 203,486,774(+) TGGAG(A/C)ACGTG reference, missense
rs2233726 - 203,483,653(+) TCTAC(A/G)TGGAG reference, missense
rs2233732 - 203,486,733(+) CCCCA(A/G)CGACC reference, missense
rs41313926 - 203,483,281(+) GGCCC(A/G)GGCGC reference, missense
rs1166 -- 203,487,093(-) ACTGG(G/T)TGTCT utr-variant-3-prime

Variation tolerance for PRELP Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.64; 45.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRELP Gene

HapMap Linkage Disequilibrium report
PRELP

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

Disorders for PRELP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRELP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hutchinson-gilford progeria
  • progeria
progeria
  • hgps
- elite association - COSMIC cancer census association via MalaCards
Search PRELP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PRELP

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

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

Publications for PRELP Gene

  1. The gene organization, chromosome location, and expression of a 55- kDa matrix protein (PRELP) of human articular cartilage. (PMID: 8954791) Grover J. … Roughley P.J. (Genomics 1996) 3 4 23 67
  2. The consequence of PRELP overexpression on skin. (PMID: 17123807) Grover J. … Roughley P.J. (Matrix Biol. 2007) 3 23
  3. Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP. (PMID: 17093390) Johnson J.M. … Rada J.A. (Mol. Vis. 2006) 3 23
  4. PRELP, collagen, and a theory of Hutchinson-Gilford progeria. (PMID: 12437997) Lewis M. (Ageing Res. Rev. 2003) 3 23
  5. The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor. (PMID: 11847210) Bengtsson E. … Aspberg A. (J. Biol. Chem. 2002) 3 23

Products for PRELP Gene

Sources for PRELP Gene

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