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PRELP proline and arginine rich end leucine rich repeat protein [ Homo sapiens (human) ]

Gene ID: 5549, updated on 5-Mar-2024

Summary

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Official Symbol
PRELPprovided by HGNC
Official Full Name
proline and arginine rich end leucine rich repeat proteinprovided by HGNC
Primary source
HGNC:HGNC:9357
See related
Ensembl:ENSG00000188783 MIM:601914; AllianceGenome:HGNC:9357
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MST161; SLRR2A; MSTP161
Summary
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]
Expression
Broad expression in ovary (RPKM 42.7), fat (RPKM 41.5) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1q32.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203475806..203491352)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202738636..202754205)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203444934..203460480)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak658 silencer Neighboring gene bone marrow associated non-coding RNA Neighboring gene uncharacterized LOC124904487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2351 Neighboring gene MPRA-validated peak660 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:203460588-203461386 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:203462774-203463002 Neighboring gene uncharacterized LOC105371688 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:203473836-203474011 Neighboring gene opticin Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:203480878-203481618 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:203481606-203482805 Neighboring gene uncharacterized LOC124904488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203486279-203487110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203487943-203488774 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203488775-203489607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203491273-203492103

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Repression of the PRELP gene is relieved by histone deacetylase inhibitors through acetylation of histone H2B lysine 5 in bladder cancer. Shozu K, et al. Clin Epigenetics, 2022 Nov 12. PMID 36371227, Free PMC Article
  2. A novel biomarker of MMP-cleaved prolargin is elevated in patients with psoriatic arthritis. Sinkeviciute D, et al. Sci Rep, 2020 Aug 11. PMID 32782251, Free PMC Article
  3. Identification of prolargin expression in articular cartilage and its significance in rheumatoid arthritis pathology. Pillai VS, et al. Int J Biol Macromol, 2018 Apr 15. PMID 29402456
  4. PRELP Enhances Host Innate Immunity against the Respiratory Tract Pathogen Moraxella catarrhalis. Liu G, et al. J Immunol, 2017 Mar 15. PMID 28148731
  5. A proline/arginine-rich end leucine-rich repeat protein (PRELP) variant is uniquely expressed in chronic lymphocytic leukemia cells. Mikaelsson E, et al. PLoS One, 2013. PMID 23826326, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Correlation of the tumor escape phenotype with loss of PRELP expression in melanoma.
    Title: Correlation of the tumor escape phenotype with loss of PRELP expression in melanoma.
  2. Repression of the PRELP gene is relieved by histone deacetylase inhibitors through acetylation of histone H2B lysine 5 in bladder cancer.
    Title: Repression of the PRELP gene is relieved by histone deacetylase inhibitors through acetylation of histone H2B lysine 5 in bladder cancer.
  3. Proteomic identification and validation of novel interactions of the putative tumor suppressor PRELP with membrane proteins including IGFI-R and p75NTR.
    Title: Proteomic identification and validation of novel interactions of the putative tumor suppressor PRELP with membrane proteins including IGFI-R and p75NTR.
  4. A novel biomarker of MMP-cleaved prolargin is elevated in patients with psoriatic arthritis.
    Title: A novel biomarker of MMP-cleaved prolargin is elevated in patients with psoriatic arthritis.
  5. Up regulation of prolargin in RA suggests the likelihood of an adaptive mechanism to control the increased osteoclastogenesis in RA and may have therapeutic value in controlling the disease.
    Title: Identification of prolargin expression in articular cartilage and its significance in rheumatoid arthritis pathology.
  6. PRELP was more expressed in peritoneal lesions. Considering that the genes studied participate either directly or indirectly in cellular processes that can lead to cell migration, angiogenesis, and inappropriate invasion, it is possible that the deregulation of these genes caused the development and maintenance of ectopic tissue.
    Title: Increased expression of ID2, PRELP and SMOC2 genes in patients with endometriosis.
  7. this study shows that PRELP enhances host innate immunity against Moraxella catarrhalis through increasing complement-mediated attack, improving phagocytic killing activity of neutrophils, and preventing bacterial adherence to lung epithelial cells
    Title: PRELP Enhances Host Innate Immunity against the Respiratory Tract Pathogen Moraxella catarrhalis.
  8. These findings provide support for a role of the N-terminal region of PRELP as an important regulator of cell adhesion and behaviour, which may be of importance in pathological conditions.
    Title: The leucine-rich repeat protein PRELP binds fibroblast cell-surface proteoglycans and enhances focal adhesion formation.
  9. The unique expression of a 38 kDa PRELP in chronic lymphocytic leukemia (CLL) cells may suggest involvement in the pathobiology of CLL
    Title: A proline/arginine-rich end leucine-rich repeat protein (PRELP) variant is uniquely expressed in chronic lymphocytic leukemia cells.
  10. PRELP expression governs stem cells to differentiate into ligament tissue in a mouse model.
    Title: Proline/arginine-rich end leucine-rich repeat protein converts stem cells to ligament tissue and Zn(II) influences its nuclear expression.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC45323

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent TAS
Traceable Author Statement
more info
 PubMed 
enables extracellular matrix structural constituent conferring compression resistance ISS
Inferred from Sequence or Structural Similarity
more info
  
enables extracellular matrix structural constituent conferring compression resistance RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cellular senescence IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
  
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular matrix TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular vesicle HDA PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
prolargin
Names
55 kDa leucine-rich repeat protein of articular cartilage
prolargin proteoglycan
proline-arginine-rich end leucine-rich repeat protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002725.4 → NP_002716.1  prolargin precursor

    See identical proteins and their annotated locations for NP_002716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the same protein as variant 2.
    Source sequence(s)
    AL391817, BC032498, BQ010158, CA393630
    Consensus CDS
    CCDS1438.1
    UniProtKB/Swiss-Prot
    P51888, Q6FG38
    UniProtKB/TrEMBL
    Q6FHG6
    Related
    ENSP00000343924.2, ENST00000343110.3
    Conserved Domains (4) summary
    smart00013
    Location:72 → 107
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:104 → 127
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:102 → 162
    LRR_8; Leucine rich repeat
    cl26018
    Location:133 → 353
    NEL; C-terminal novel E3 ligase, LRR-interacting

  2. NM_201348.2 → NP_958505.1  prolargin precursor

    See identical proteins and their annotated locations for NP_958505.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site with the 5' end exon compared to variant 1. Both variants encode the same protein.
    Source sequence(s)
    AL391817, BC032498, BQ010158, DB498999
    Consensus CDS
    CCDS1438.1
    UniProtKB/Swiss-Prot
    P51888, Q6FG38
    UniProtKB/TrEMBL
    Q6FHG6
    Conserved Domains (4) summary
    smart00013
    Location:72 → 107
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:104 → 127
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:102 → 162
    LRR_8; Leucine rich repeat
    cl26018
    Location:133 → 353
    NEL; C-terminal novel E3 ligase, LRR-interacting

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    203475806..203491352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    202738636..202754205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51888.1 GenPept UniProtKB/Swiss-Prot:P51888

Gene LinkOut

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