Gene Gene information from NCBI Gene database.
Entrez ID 27043
Gene name Proline, glutamate and leucine rich protein 1
Gene symbol PELP1
Synonyms (NCBI Gene)
MNARP160
Chromosome 17
Chromosome location 17p13.2
Summary This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by b
miRNA miRNA information provided by mirtarbase database.
741
miRTarBase ID miRNA Experiments Reference
MIRT017038 hsa-miR-335-5p Microarray 18185580
MIRT021334 hsa-miR-9-5p Microarray 17612493
MIRT050661 hsa-miR-18a-5p CLASH 23622248
MIRT050661 hsa-miR-18a-5p CLASH 23622248
MIRT042544 hsa-miR-423-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
DACH1 Unknown 19605405
ESR1 Unknown 15087130
ESR2 Unknown 15087130
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000791 Component Euchromatin IDA 17505058
GO:0003682 Function Chromatin binding IDA 17505058
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 16169070, 17505058, 20195357, 20448663, 21326211, 27814492, 28514442, 30021884, 33961781, 36351913
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609455 30134 ENSG00000141456
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZL8
Protein name Proline-, glutamic acid- and leucine-rich protein 1 (Modulator of non-genomic activity of estrogen receptor) (Transcription factor HMX3)
Protein function Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors (PubMed:14963108). Plays a role in estrogen receptor (ER) genomic activity when present in t
PDB 7UWF , 8FL2 , 8FL3 , 8FL4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08167 RIX1 53 231 rRNA processing/ribosome biogenesis Domain
PF08166 NUC202 423 489 NUC202 domain Domain
PF08166 NUC202 569 642 NUC202 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11481323}.
Sequence
MAAAVLSGPSAGSAAGVPGGTGGLSAVSSGPRLRLLLLESVSGLLQPRTGSAVAPVHPPN
RSAPHLPGLMCLLRLHGSVGGAQNLSALGALVSLSNARLSSIKTRFEGLCLLSLLVGESP
TELFQQHCVSWLRSIQQVLQTQDPPATMELAVAVLRDLLRYAAQLPALFRDISMNHLPGL
LTSLLGLRPECEQSALEGMKACMTYFPRACGSLKGKLASFFLSRVDALSPQ
LQQLACECY
SRLPSLGAGFSQGLKHTESWEQELHSLLASLHTLLGALYEGAETAPVQNEGPGVEMLLSS
EDGDAHVLLQLRQRFSGLARCLGLMLSSEFGAPVSVPVQEILDFICRTLSVSSKNISLHG
DGPLRLLLLPSIHLEALDLLSALILACGSRLLRFGILIGRLLPQVLNSWSIGRDSLSPGQ
ERPYSTVRTKVYAILELWVQVCGASAGMLQGGASGEALLTHLLSDISPPADALKLRSPRG
SPDGSLQTG
KPSAPKKLKLDVGEAMAPPSHRKGDSNANSDVCAAALRGLSRTILMCGPLI
KEETHRRLHDLVLPLVMGVQQGEVLGSSPYTSSRCRRELYCLLLALLLAPSPRCPPPLAC
ALQAFSLGQREDSLEVSSFCSEALVTCAALTHPRVPPLQPMG
PTCPTPAPVPPPEAPSPF
RAPPFHPPGPMPSVGSMPSAGPMPSAGPMPSAGPVPSARPGPPTTANHLGLSVPGLVSVP
PRLLPGPENHRAGSNEDPILAPSGTPPPTIPPDETFGGRVPRPAFVHYDKEEASDVEISL
ESDSDDSVVIVPEGLPPLPPPPPSGATPPPIAPTGPPTASPPVPAKEEPEELPAAPGPLP
PPPPPPPPVPGPVTLPPPQLVPEGTPGGGGPPALEEDLTVININSSDEEEEEEEEEEEEE
EEEEEEEEDFEEEEEDEEEYFEEEEEEEEEFEEEFEEEEGELEEEEEEEDEEEEEELEEV
EDLEFGTAGGEVEEGAPPPPTLPPALPPPESPPKVQPEPEPEPGLLLEVEEPGTEEERGA
DTAPTLAPEALPSQGEVEREGESPAAGPPPQELVEEEPSAPPTLLEEETEDGSDKVQPPP
ETPAEEEMETETEAEALQEKEQDDTAAMLADFIDCPPDDEKPPPPTEPDS
Sequence length 1130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
PTK6 Expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Global developmental delay Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of urinary bladder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 34257530
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Associate 24786831
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 11481323, 12682072, 18079323, 24447537, 24469035, 24627205, 24786831, 25789479, 26247365, 26472563, 30134648, 32037484, 35395812, 35950923
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Stimulate 24688046, 26825173, 31322541
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 19478391, 24447537, 31322541
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Stimulate 31322541
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 32425504, 34257530
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Associate 23497172
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 39290696
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 19478391
★☆☆☆☆
Found in Text Mining only