PRELP proline/arginine-rich end leucine-rich repeat protein [Homo sapiens] - Gene

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Summary

Official Symbol: PRELPprovided by HGNC
Official Full Name: proline/arginine-rich end leucine-rich repeat proteinprovided by HGNC
Primary source: HGNC:9357
Locus tag: RP11-91B9.1
See related: Ensembl:ENSG00000188783; HPRD:03556; MIM:601914; Vega:OTTHUMG00000035911
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]

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Genomic context

Location :: 1q32

Sequence :: Chromosome: 1; NC_000001.10 (203444883..203460480)

See PRELP in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
PRELP overexpression leads to a connective tissue phenotype in the skin, where the organization of collagen fibrils in the dermis was perturbed and the thickness of the hypodermal fat layer was diminished.
Title: The consequence of PRELP overexpression on skin.
Relative abundance of PRELP mRNA and protein inhuman sclera, and observed age-related variation in scleral PRELP expression suggests that PRELP may play critical role in regulating biomechanical properties of scleral extracellular matrix.
Title: Small leucine rich repeat proteoglycans (SLRPs) in the human sclera: identification of abundant levels of PRELP.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P51888	P02452	COL1A1	HPRD	PubMed
P51888	P02458	COL2A1	HPRD	PubMed
P51888	P98095	FBLN2	HPRD	PubMed
P51888	P02751	FN1	HPRD	PubMed
P51888	P98160	HSPG2	HPRD	PubMed
P51888	P14543	NID1	HPRD	PubMed
BioGRID:111540	BioGRID:107674	COL1A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111540	BioGRID:107677	COL2A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111540	BioGRID:108493	FBLN2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111540	BioGRID:109571	HSPG2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111540	BioGRID:116476	NID2	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
heparin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell aging	IEA Inferred from Electronic Annotation more info
skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
extracellular region	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: prolargin

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

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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)

NM_002725.3 → NP_002716.1 prolargin precursor

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

UniProtKB/TrEMBL

Q6FG38

Related

ENSP00000343924, OTTHUMP00000034099, ENST00000343110, OTTHUMT00000087474

Conserved Domains (3) summary

cl15309
Location:144 – 363
Blast Score: 98

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam13855
Location:103 – 162
Blast Score: 121

LRR_8; Leucine rich repeat

cl02423
Location:72 – 107
Blast Score: 101

LRRNT; Leucine rich repeat N-terminal domain
NM_201348.1 → NP_958505.1 prolargin precursor

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

UniProtKB/TrEMBL

Q6FG38

Conserved Domains (3) summary

cl15309
Location:144 – 363
Blast Score: 98

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam13855
Location:103 – 162
Blast Score: 121

LRR_8; Leucine rich repeat

cl02423
Location:72 – 107
Blast Score: 101

LRRNT; Leucine rich repeat N-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

203444883..203460480

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

174609796..174625529

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL391817.18	CAI17033.1
genomic	CH471067.1	EAW91481.1
genomic	U41344.1	AAC18782.1
mRNA	AK098245.1	None
mRNA	BC032498.1	AAH32498.1
mRNA	BE275567.1	None
mRNA	BG569381.1	None
mRNA	BI770477.1	None
mRNA	BM705293.1	None
mRNA	BQ010158.1	None
mRNA	BQ181008.1	None
mRNA	BQ182260.1	None
mRNA	BQ706095.1	None
mRNA	BQ777133.1	None
mRNA	BQ778242.1	None
mRNA	CA393630.1	None
mRNA	CA776651.1	None
mRNA	CR541787.1	CAG46586.1
mRNA	CR542270.1	CAG47066.1
mRNA	DB498999.1	None
mRNA	R83537.1	None
mRNA	U29089.1	AAC50230.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
P51888.1	GenPept	UniProtKB/Swiss-Prot:P51888
Q6FG38	GenPept	UniProtKB/TrEMBL:Q6FG38
Q6FHG6	GenPept	UniProtKB/TrEMBL:Q6FHG6
Q7Z4B2	GenPept	UniProtKB/TrEMBL:Q7Z4B2