PELP1 proline, glutamate and leucine rich protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PELP1provided by HGNC
Official Full Name: proline, glutamate and leucine rich protein 1provided by HGNC
Primary source: HGNC:HGNC:30134
See related: Ensembl:ENSG00000141456 MIM:609455; AllianceGenome:HGNC:30134
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: MNAR; P160
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 both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Ubiquitous expression in testis (RPKM 17.1), brain (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4669774..4704137, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4559472..4593869, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4573069..4607432, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PELP1 and SRC kinase as important molecules in the estrogen-mediated pathway in human testis and epididymis.
Title: PELP1 and SRC kinase as important molecules in the estrogen-mediated pathway in human testis and epididymis.
Expression of estrogen receptors, PELP1, and SRC in human spermatozoa and their associations with semen quality.
Title: Expression of estrogen receptors, PELP1, and SRC in human spermatozoa and their associations with semen quality.
PELP1 is overexpressed in lung cancer and promotes tumor cell malignancy and resistance to tyrosine kinase inhibitor drug.
Title: PELP1 is overexpressed in lung cancer and promotes tumor cell malignancy and resistance to tyrosine kinase inhibitor drug.
Interaction of transcription factor AP-2 gamma with proto-oncogene PELP1 promotes tumorigenesis by enhancing RET signaling.
Title: Interaction of transcription factor AP-2 gamma with proto-oncogene PELP1 promotes tumorigenesis by enhancing RET signaling.
Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
Title: Somatic mutations of cancer-related genes PELP1 and BDP1 in colorectal cancers.
Overexpression of PELP1 in Lung Adenocarcinoma Promoted E2 Induced Proliferation, Migration and Invasion of the Tumor Cells and Predicted a Worse Outcome of the Patients.
Title: Overexpression of PELP1 in Lung Adenocarcinoma Promoted E(2) Induced Proliferation, Migration and Invasion of the Tumor Cells and Predicted a Worse Outcome of the Patients.
PELP1/SRC-3-dependent regulation of metabolic PFKFB kinases drives therapy resistant ER(+) breast cancer.
Title: PELP1/SRC-3-dependent regulation of metabolic PFKFB kinases drives therapy resistant ER(+) breast cancer.
PELP1 promotes the expression of RUNX2 via the ERK pathway during the osteogenic differentiation of human periodontal ligament stem cells.
Title: PELP1 promotes the expression of RUNX2 via the ERK pathway during the osteogenic differentiation of human periodontal ligament stem cells.
Estradiol-Induced MMP-9 Expression via PELP1-Mediated Membrane-Initiated Signaling in ERalpha-Positive Breast Cancer Cells.
Title: Estradiol-Induced MMP-9 Expression via PELP1-Mediated Membrane-Initiated Signaling in ERα-Positive Breast Cancer Cells.
Authors validated that PELP1 was significantly up-regulated in GC samples and cell lines. It was also demonstrated that the up-regulation of PELP1 was associated with several clinicopathologic features.
Title: PELP1 is a novel oncogene in gastric tumorigenesis and negatively regulated by miR-15 family microRNAs.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of proline, glutamate and leucine rich protein 1 (PELP1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables SUMO binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to estrogen stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: proline-, glutamic acid- and leucine-rich protein 1

Names: modulator of non-genomic activity of estrogen receptor; proline and glutamic acid rich nuclear protein; transcription factor HMX3

NCBI Reference Sequences (RefSeq)

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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_001278241.2 → NP_001265170.1 proline-, glutamic acid- and leucine-rich protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in its 5' UTR, uses a downstream in-frame start codon, and lacks an alternate in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC091153, AK293838, AK299084, BC010457, DC417876

Consensus CDS

CCDS62038.1

UniProtKB/TrEMBL

B4DEX7, E7EV54

Related

ENSP00000416231.2, ENST00000436683.6

Conserved Domains (2) summary

pfam08166
Location:276 → 342

NUC202; NUC202 domain

pfam08167
Location:2 → 85

RIX1; rRNA processing/ribosome biogenesis
NM_014389.3 → NP_055204.4 proline-, glutamic acid- and leucine-rich protein 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC091153, AI927300, BC010457, BC069058, DC417876

Consensus CDS

CCDS58503.3

UniProtKB/Swiss-Prot

O15450, Q5EGN3, Q6NTE6, Q8IZL8, Q96FT1, Q9BU60

UniProtKB/TrEMBL

A8K548

Related

ENSP00000460300.2, ENST00000572293.7