PAGR1 PAXIP1 associated glutamate rich protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAGR1provided by HGNC
Official Full Name: PAXIP1 associated glutamate rich protein 1provided by HGNC
Primary source: HGNC:HGNC:28707
See related: Ensembl:ENSG00000280789 MIM:612033; AllianceGenome:HGNC:28707
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAS; PA1; C16orf53
Summary: Enables nuclear estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 11.5), prostate (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (29816152..29822489)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30098315..30104650)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (29827473..29833810)

Chromosome 16 - NC_000016.10 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 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?

PTIP associated protein 1, PA1, is an independent prognostic factor for lymphnode negative breast cancer.
Title: PTIP associated protein 1, PA1, is an independent prognostic factor for lymphnode negative breast cancer.
PA1 expression was observed in both nucleus (mainly)and cytoplasm from breast cancer tissue samples. PA1 nuclear expression was correlated with postmenopausal, smaller tumor size, negative Ki67, positive AR and positive ERbeta. PA1 nuclear positive cases seemed to have a longer survival than negative ones for RFS. For those patients without lymphnode metastasis PA1 was found to be an independent prognostic factor for RFS.
Title: PTIP associated protein 1, PA1, is an independent prognostic factor for lymphnode negative breast cancer.
PA1 is a new competitive decelerator of GR transactivation and can act at more than one molecularly defined step in a manner that depends upon the specific gene
Title: PA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation.
subset of PTIP.PA1 complex is recruited to DNA damage sites via the RNF8-dependent pathway and is required for cell survival in response to DNA damage.
Title: Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage.
GAS is a new transcription cofactor
Title: GAS, a new glutamate-rich protein, interacts differentially with SRCs and is involved in oestrogen receptor function.
PA1 (C16orf53) binds PTIP directly and requires PTIP for interaction with the MLL3- and MLL4-containing histone H3 K4 methyltransferase complex.
Title: PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3210 (e-PCR)
- UniSTS:20754

D16S2588E (e-PCR)
- UniSTS:86202

D16S383 (e-PCR)
- UniSTS:149700

RH17219 (e-PCR)
- UniSTS:31458

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear estrogen receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear estrogen receptor 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 DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell cycle G1/S phase transition	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular estrogen receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of intracellular estrogen receptor signaling pathway	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

Component	Evidence Code	Pubs
part_of MLL3/4 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MLL3/4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL3/4 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PAXIP1-associated glutamate-rich protein 1

Names: PAXIP1-associated protein 1; PTIP-associated 1 protein; PTIP-associated protein 1; glutamate-rich coactivator associated with SRC1; glutamate-rich coactivator interacting with SRC1; glutamate-rich coactivator interacting with SRC1/NCOA1

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.