Endometriosis Knowledgebase

Search Result

Gene id

5549

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PRELP Gene UCSC Ensembl

Aliases

MST161, MSTP161, SLRR2A

Gene name

proline and arginine rich end leucine rich repeat protein

Alternate names

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

Gene location

1q32.1 (203475754: 203491351) Exons: 3 NC_000001.11

Gene summary(Entrez)

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]

OMIM

601914

SNPs

rs7542469

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.203487970A>G
NC_000001.10   g.203457098A>G
NC_000001.11   g.203487970A>G
NM_002725.3   c.*1089A>G
NM_201348.1   c.*1089A>G

Protein Summary

Protein general information

P51888

Name: Prolargin (Proline-arginine-rich end leucine-rich repeat protein)

Length: 382 Mass: 43,810

Tissue specificity: Connective tissue.

Sequence

MRSPLCWLLPLLILASVAQGQPTRRPRPGTGPGRRPRPRPRPTPSFPQPDEPAEPTDLPPPLPPGPPSIFPDCPR
ECYCPPDFPSALYCDSRNLRKVPVIPPRIHYLYLQNNFITELPVESFQNATGLRWINLDNNRIRKIDQRVLEKLP
GLVFLYMEKNQLEEVPSALPRNLEQLRLSQNHISRIPPGVFSKLENLLLLDLQHNRLSDGVFKPDTFHGLKNLMQ
LNLAHNILRKMPPRVPTAIHQLYLDSNKIETIPNGYFKSFPNLAFIRLNYNKLTDRGLPKNSFNISNLLVLHLSH
NRISSVPAINNRLEHLYLNNNSIEKINGTQICPNDLVAFHDFSSDLENVPHLRYLRLDGNYLKPPIPLDLMMCFR
LLQSVVI

Structural information

Interpro:	IPR001611 IPR003591 IPR032675 IPR000372 IPR027216
Prosite:	PS51450
Pfam:	PF00560 PF13855
MINT:
STRING:	ENSP00000343924;

Other Databases

GeneCards: PRELP; Malacards: PRELP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0007569	cell aging	IEA	biological_process
GO:0008201	heparin binding	IBA	molecular_function
GO:0018146	keratan sulfate biosynthe tic process	TAS	biological_process
GO:0042340	keratan sulfate catabolic process	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903561	extracellular vesicle	IDA	cellular_component
GO:0007409	axonogenesis	IBA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0007569	cell aging	IEA	biological_process
GO:0008201	heparin binding	IEA	molecular_function
GO:0008201	heparin binding	IBA	molecular_function
GO:0018146	keratan sulfate biosynthe tic process	TAS	biological_process
GO:0042340	keratan sulfate catabolic process	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903561	extracellular vesicle	IDA	cellular_component
GO:0007409	axonogenesis	IBA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0005201	extracellular matrix stru ctural constituent	TAS	molecular_function
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	TAS	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0005796	Golgi lumen	TAS	cellular_component
GO:0008201	heparin binding	IBA	molecular_function
GO:0018146	keratan sulfate biosynthe tic process	TAS	biological_process
GO:0042340	keratan sulfate catabolic process	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1903561	extracellular vesicle	IDA	cellular_component
GO:0007409	axonogenesis	IBA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component

Diseases

Associated diseases	References
Endometriosis	INFBASE28678915

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28678915	Endometrio sis			36 (10 from end ometrial and pe ritoneal endome triotic lesions , 10 from endom etrial and ovar ian endometriot ic lesions, 16 endometrium sam ples were colle cted from women without endome triosis)			Show abstract