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Aliases for PRELP Gene

Aliases for PRELP Gene

  • Proline And 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
  • Prolargin 3
  • 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 And Arginine Rich End Leucine Rich Repeat Protein) is a Protein Coding gene. Among its related pathways are Defective CHST6 causes MCDC1 and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is KERA.

UniProtKB/Swiss-Prot for PRELP Gene

  • May anchor basement membranes to the underlying connective tissue.

Gene Wiki entry for PRELP Gene

Additional gene information for PRELP Gene

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

Genomics for PRELP Gene

GeneHancer (GH) Regulatory Elements for PRELP Gene

Promoters and enhancers for PRELP 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
GH01I203475 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 597 2.9 HDGF CTCF RFX1 MAZ NR2F1 EBF1 DPF2 ZBTB40 RELA GATA3 PRELP OPTC GC01M203457
GH01I203473 Enhancer 0.2 dbSUPER 550.8 -2.0 -1969 1 PRELP OPTC LOC100131747 FMOD GC01M203439 GC01M203457
GH01I203474 Enhancer 0.2 dbSUPER 550.8 -1.3 -1291 0.2 PRELP FMOD LOC100131747 GC01M203439 GC01M203457
GH01I203298 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12.4 -171.2 -171214 12.2 FEZF1 YBX1 YY1 ZNF213 ZNF143 NFYC MEF2D ZNF610 GLIS1 NBN BTG2 LINC01136 ZC3H11A KLHL12 HNRNPA1P59 SNRPE ZBED6 FMOD PRELP RPS27P8
GH01I203624 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 +152.4 152424 7.2 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A YBX1 ZNF2 ZBTB7B YY1 ATP2B4 ZC3H11A SNRPE MDM4 ZBED6 KDM5B OPTC SOX13 FMOD HNRNPA1P59
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRELP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRELP gene promoter:

Genomic Locations for PRELP Gene

Genomic Locations for PRELP Gene
chr1:203,475,755-203,491,352
(GRCh38/hg38)
Size:
15,598 bases
Orientation:
Plus strand
chr1:203,444,883-203,460,480
(GRCh37/hg19)

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

Post-translational modifications for PRELP Gene

  • Glycosylation at Asn124, isoforms=289, isoforms=320, and Asn327

Other Protein References for PRELP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRELP Gene

Domains & Families for PRELP Gene

Gene Families for PRELP Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

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.
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.
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.

Gene Ontology (GO) - Molecular Function for PRELP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA,TAS --
GO:0008201 heparin binding IEA,IBA --
genes like me logo Genes that share ontologies with PRELP: view
genes like me logo Genes that share phenotypes with PRELP: view

Animal Models for PRELP Gene

MGI Knock Outs for PRELP:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 PRELP gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PRELP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IDA --
GO:0005578 proteinaceous extracellular matrix TAS,IBA --
GO:0005615 extracellular space IBA,IEA --
GO:0005796 Golgi lumen TAS --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with PRELP: view

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

Pathways & Interactions for PRELP Gene

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

Gene Ontology (GO) - Biological Process for PRELP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7592739
GO:0007409 NOT axonogenesis IBA --
GO:0007569 cell aging IEA --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0042340 keratan sulfate catabolic 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PRELP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRELP Gene:

PRELP

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.

Evidence on tissue expression from TISSUES for PRELP Gene

  • Spleen(4.3)
  • Liver(4.2)
  • Pancreas(4.2)
  • Eye(3.3)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with PRELP: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PRELP Gene

Orthologs for PRELP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRELP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRELP 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia PRELP 33 34
  • 91.11 (n)
cow
(Bos Taurus)
Mammalia PRELP 33 34
  • 88.66 (n)
mouse
(Mus musculus)
Mammalia Prelp 33 16 34
  • 88.23 (n)
rat
(Rattus norvegicus)
Mammalia Prelp 33
  • 87.67 (n)
oppossum
(Monodelphis domestica)
Mammalia PRELP 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRELP 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRELP 33 34
  • 79.24 (n)
lizard
(Anolis carolinensis)
Reptilia PRELP 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prelp 33
  • 66.37 (n)
zebrafish
(Danio rerio)
Actinopterygii prelp 33 34
  • 65.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for PRELP 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)
  • 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 Variation AA Info Type
rs1000028993 -- 203,481,954(+) A/C intron_variant
rs1000067461 -- 203,478,128(+) C/T intron_variant
rs1000473430 -- 203,477,397(+) G/A intron_variant
rs1000998171 -- 203,489,782(+) C/A 3_prime_UTR_variant
rs1001174512 -- 203,488,684(+) G/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv952640 CNV deletion 24416366
esv2762217 CNV gain 21179565

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)

Additional Variant Information for PRELP Gene

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

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

Disorders for PRELP Gene

Additional Disease Information for PRELP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PRELP Gene.

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

Publications for PRELP Gene

  1. The primary structure of a basic leucine-rich repeat protein, PRELP, found in connective tissues. (PMID: 7592739) Bengtsson E … Sommarin Y (The Journal of biological chemistry 1995) 2 3 4 22 58
  2. The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage. (PMID: 8954791) Grover J … Roughley PJ (Genomics 1996) 3 4 22 58
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 44 58
  5. The consequence of PRELP overexpression on skin. (PMID: 17123807) Grover J … Roughley PJ (Matrix biology : journal of the International Society for Matrix Biology 2007) 3 22 58

Products for PRELP Gene

Sources for PRELP Gene

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