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

Gene ID: 5549, updated on 1-Jun-2020

Summary

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
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

Genomic context

See PRELP in Genome Data Viewer
Location:
1q32.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (203475806..203491352)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203444883..203460480)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LARP7 pseudogene 1 Neighboring gene bone marrow associated non-coding RNA Neighboring gene uncharacterized LOC105371688 Neighboring gene opticin Neighboring gene ATPase plasma membrane Ca2+ transporting 4 Neighboring gene NSA2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45323

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix structural constituent conferring compression resistance ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent conferring compression resistance RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell aging IEA
Inferred from Electronic Annotation
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
keratan sulfate catabolic process TAS
Traceable Author Statement
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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_002725.4NP_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
    Related
    ENSP00000343924.2, ENST00000343110.3
    Conserved Domains (4) summary
    smart00013
    Location:72107
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:104127
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:102162
    LRR_8; Leucine rich repeat
    cl26018
    Location:133353
    NEL; C-terminal novel E3 ligase, LRR-interacting
  2. NM_201348.2NP_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
    Conserved Domains (4) summary
    smart00013
    Location:72107
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:104127
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:102162
    LRR_8; Leucine rich repeat
    cl26018
    Location:133353
    NEL; C-terminal novel E3 ligase, LRR-interacting

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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