Gene Gene information from NCBI Gene database.
Entrez ID 5356
Gene name Pleiotropic regulator 1
Gene symbol PLRG1
Synonyms (NCBI Gene)
Cwc1PRL1PRP46PRPF46TANGO4
Chromosome 4
Chromosome location 4q31.3
Summary This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alter
miRNA miRNA information provided by mirtarbase database.
489
miRTarBase ID miRNA Experiments Reference
MIRT031549 hsa-miR-16-5p Proteomics 18668040
MIRT521861 hsa-miR-8485 HITS-CLIP 23824327
MIRT521860 hsa-miR-329-3p HITS-CLIP 23824327
MIRT521859 hsa-miR-362-3p HITS-CLIP 23824327
MIRT521858 hsa-miR-603 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CDC5L Unknown 11544257
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 28076346
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0000398 Process MRNA splicing, via spliceosome NAS 23742842
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605961 9089 ENSG00000171566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43660
Protein name Pleiotropic regulator 1
Protein function Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:111015
PDB 4YVD , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6ZYM , 7AAV , 7ABF , 7ABG , 7ABI , 7DH6 , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 194 232 WD domain, G-beta repeat Repeat
PF00400 WD40 236 274 WD domain, G-beta repeat Repeat
PF00400 WD40 278 316 WD domain, G-beta repeat Repeat
PF00400 WD40 320 358 WD domain, G-beta repeat Repeat
PF00400 WD40 403 440 WD domain, G-beta repeat Repeat
Sequence
MVEEVQKHSVHTLVFRSLKRTHDMFVADNGKPVPLDEESHKRKMAIKLRNEYGPVLHMPT
SKENLKEKGPQNATDSYVHKQYPANQGQEVEYFVAGTHPYPPGPGVALTADTKIQRMPSE
SAAQSLAVALPLQTKADANRTAPSGSEYRHPGASDRPQPTAMNSIVMETGNTKNSALMAK
KAPTMPKPQWHPPWKLYRVISGHLGWVRCIAVEPGNQWFVTGSADRTIKIWDLASGKLKL
SLTGHISTVRGVIVSTRSPYLFSCGEDKQVKCWD
LEYNKVIRHYHGHLSAVYGLDLHPTI
DVLVTCSRDSTARIWD
VRTKASVHTLSGHTNAVATVRCQAAEPQIITGSHDTTIRLWDLV
AGKTRVTLTNHKKSVRAVVLHPRHYTFASGSPDNIKQWKFPDGSFIQNLSGHNAIINTLT
VNSDGVLVSGADNGTMHLWD
WRTGYNFQRVHAAVQPGSLDSESGIFACAFDQSESRLLTA
EADKTIKVYREDDTATEETHPVSWKPEIIKRKRF
Sequence length 514
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35290436 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 17234774, 20484558, 30462625
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25003523, 30661451
★☆☆☆☆
Found in Text Mining only
Liver Failure Liver failure BEFREE 31653075
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 17234774, 20484558, 30462625
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 24968948
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 17234774, 21541048
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 18187808, 18684031, 23696794, 24939702
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 24968948
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of esophagus Esophagus Neoplasm BEFREE 18684031
★☆☆☆☆
Found in Text Mining only