Gene Gene information from NCBI Gene database.
Entrez ID 5549
Gene name Proline and arginine rich end leucine rich repeat protein
Gene symbol PRELP
Synonyms (NCBI Gene)
MST161MSTP161SLRR2A
Chromosome 1
Chromosome location 1q32.1
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
miRNA miRNA information provided by mirtarbase database.
451
miRTarBase ID miRNA Experiments Reference
MIRT569592 hsa-miR-3154 PAR-CLIP 20371350
MIRT569591 hsa-miR-3179 PAR-CLIP 20371350
MIRT569590 hsa-miR-6770-5p PAR-CLIP 20371350
MIRT569589 hsa-miR-3150b-3p PAR-CLIP 20371350
MIRT569588 hsa-miR-4784 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 7592739
GO:0005201 Function Extracellular matrix structural constituent TAS 7592739
GO:0005576 Component Extracellular region HDA 27068509
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601914 9357 ENSG00000188783
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51888
Protein name Prolargin (Proline-arginine-rich end leucine-rich repeat protein)
Protein function May anchor basement membranes to the underlying connective tissue.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 102 162 Leucine rich repeat Repeat
PF13855 LRR_8 171 233 Leucine rich repeat Repeat
PF13855 LRR_8 242 303 Leucine rich repeat Repeat
PF00560 LRR_1 312 342 Leucine Rich Repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Connective tissue.
Sequence
MRSPLCWLLPLLILASVAQGQPTRRPRPGTGPGRRPRPRPRPTPSFPQPDEPAEPTDLPP
PLPPGPPSIFPDCPRECYCPPDFPSALYCDSRNLRKVPVIPPRIHYLYLQNNFITELPVE
SFQNATGLRWINLDNNRIRKIDQRVLEKLPGLVFLYMEKNQL
EEVPSALPRNLEQLRLSQ
NHISRIPPGVFSKLENLLLLDLQHNRLSDGVFKPDTFHGLKNLMQLNLAHNIL
RKMPPRV
PTAIHQLYLDSNKIETIPNGYFKSFPNLAFIRLNYNKLTDRGLPKNSFNISNLLVLHLSH
NRI
SSVPAINNRLEHLYLNNNSIEKINGTQICPNDLVAFHDFSSDLENVPHLRYLRLDGN
YLKPPIPLDLMMCFRLLQSVVI
Sequence length 382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratan sulfate biosynthesis
Keratan sulfate degradation
Defective CHST6 causes MCDC1
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRELP-related osteosclerosis Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24459066, 25347153
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22267731 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 25347153 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36938730 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 23826326
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 29402456, 31352363
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 36232772 Associate
★☆☆☆☆
Found in Text Mining only
Endometrioma Endometrioma BEFREE 28678915
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis BEFREE 28678915
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 28678915 Associate
★☆☆☆☆
Found in Text Mining only