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

    Gene ID: 5549, updated on 27-Nov-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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    See PRELP in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203475806..203491352)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202738636..202754205)
    RS_2024_09 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. 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
    2. The primary structure of a basic leucine-rich repeat protein, PRELP, found in connective tissues. Bengtsson E, et al. J Biol Chem, 1995 Oct 27. PMID 7592739
    3. The gene organization, chromosome location, and expression of a 55-kDa matrix protein (PRELP) of human articular cartilage. Grover J, et al. Genomics, 1996 Dec 1. PMID 8954791
    4. Characterization of the human proline/arginine-rich end leucine-rich repeat protein (PRELP) gene promoter and identification of a repressor element. Grover J, et al. Biochem J, 1998 Nov 15. PMID 9806887, Free PMC Article
    5. PRELP, collagen, and a theory of Hutchinson-Gilford progeria. Lewis M. Ageing Res Rev, 2003 Jan. PMID 12437997

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adipocyte-secreted PRELP promotes adipocyte differentiation and adipose tissue fibrosis by binding with p75[NTR] to activate FAK/MAPK signaling.
      Title: Adipocyte-secreted PRELP promotes adipocyte differentiation and adipose tissue fibrosis by binding with p75(NTR) to activate FAK/MAPK signaling.
    2. PRELP inhibits the progression of oral squamous cell carcinoma via inactivation of the NF-kappaB pathway.
      Title: PRELP inhibits the progression of oral squamous cell carcinoma via inactivation of the NF-κB pathway.
    3. PRELP reduce cell stiffness and adhesion to promote the growth and metastasis of colorectal cancer cells by binding to integrin alpha5.
      Title: PRELP reduce cell stiffness and adhesion to promote the growth and metastasis of colorectal cancer cells by binding to integrin α5.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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)

    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_2024_08

    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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