PHLDA1 pleckstrin homology like domain family A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHLDA1provided by HGNC
Official Full Name: pleckstrin homology like domain family A member 1provided by HGNC
Primary source: HGNC:HGNC:8933
See related: Ensembl:ENSG00000139289 MIM:605335; AllianceGenome:HGNC:8933
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: PHRIP; TDAG51; DT1P1B11
Summary: This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in salivary gland (RPKM 37.9), liver (RPKM 29.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (76025447..76031776, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (76000528..76006853, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (76419227..76425556, complement)

Chromosome 12 - NC_000012.12 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?

PHLDA1 is a P53 target gene involved in P53-mediated cell apoptosis.
Title: PHLDA1 is a P53 target gene involved in P53-mediated cell apoptosis.
Restoration of the ER stress response protein TDAG51 in hepatocytes mitigates NAFLD in mice.
Title: Restoration of the ER stress response protein TDAG51 in hepatocytes mitigates NAFLD in mice.
PHLDA1 promotes glioblastoma cell growth via sustaining the activation state of Ras.
Title: PHLDA1 promotes glioblastoma cell growth via sustaining the activation state of Ras.
Prognostic and predictive value of Pleckstrin homology-like domain, family A family members in breast cancer.
Title: Prognostic and predictive value of Pleckstrin homology-like domain, family A family members in breast cancer.
BMP4 and PHLDA1 are plausible drug-targetable candidate genes for KRAS G12A-, G12D-, and G12V-driven colorectal cancer.
Title: BMP4 and PHLDA1 are plausible drug-targetable candidate genes for KRAS G12A-, G12D-, and G12V-driven colorectal cancer.
TDAG51 (T-Cell Death-Associated Gene 51) Is a Key Modulator of Vascular Calcification and Osteogenic Transdifferentiation of Arterial Smooth Muscle Cells.
Title: TDAG51 (T-Cell Death-Associated Gene 51) Is a Key Modulator of Vascular Calcification and Osteogenic Transdifferentiation of Arterial Smooth Muscle Cells.
there was no virtual stimulation of autophagy in the 14G2a mAb-treated CHP-134 neuroblastoma cells, we were able to show that PHLDA1 protein positively regulates autophagy and this process exists in a mutually exclusive manner with apoptosis in PHLDA1-silenced CHP-134 cells.
Title: GD2 ganglioside-binding antibody 14G2a and specific aurora A kinase inhibitor MK-5108 induce autophagy in IMR-32 neuroblastoma cells.
PHLDA1 is a biomarker for drug response.
Title: PHLDA1 Mediates Drug Resistance in Receptor Tyrosine Kinase-Driven Cancer.
that PHLDA1 downregulation in MCF10A cells leads to morphological changes and a more aggressive behavior
Title: PHLDA1 (pleckstrin homology-like domain, family A, member 1) knockdown promotes migration and invasion of MCF10A breast epithelial cells.
suggest a unique regulatory feature of PHLDA1 to inhibit the ErbB receptor oligomerization process and thereby control the activity of receptor signaling network.
Title: Transcriptionally inducible Pleckstrin homology-like domain, family A, member 1, attenuates ErbB receptor activity by inhibiting receptor oligomerization.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

RH47541 (e-PCR)
- UniSTS:14665

WI-17728 (e-PCR)
- UniSTS:83284

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

NoName (e-PCR)
- UniSTS:487047

RH47245 (e-PCR)
- UniSTS:15496

SGC32769 (e-PCR)
- UniSTS:67551

RH68021 (e-PCR)
- UniSTS:15075

RH102669 (e-PCR)
- UniSTS:97003

STS-N27861 (e-PCR)
- UniSTS:36843

NoName (e-PCR)
- UniSTS:494836

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol phosphate binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in FasL biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pleckstrin homology-like domain family A member 1

Names: PQ-rich protein; PQR protein; T-cell death-associated gene 51 protein; apoptosis-associated nuclear protein; proline- and glutamine-rich protein; proline- and histidine-rich protein; proline-histidine rich protein

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.