PHLDA3 pleckstrin homology like domain family A member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHLDA3provided by HGNC
Official Full Name: pleckstrin homology like domain family A member 3provided by HGNC
Primary source: HGNC:HGNC:8934
See related: Ensembl:ENSG00000174307 MIM:607054
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: TIH1
Expression: Broad expression in fat (RPKM 24.2), esophagus (RPKM 11.1) and 22 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1q32.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (201464278..201469188, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (201434607..201438299, complement)

Chromosome 1 - NC_000001.11 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?

although iPSCs and ESCs share lots of common features, we did not find that PHLDA3 is important to ES cell differentiation.
Title: PHLDA3 impedes somatic cell reprogramming by activating Akt-GSK3β pathway.
Low PHLDA3 expression in ESCC may be predictive of tumor recurrence suggesting that Akt activation may be a therapeutic target in ESCCs
Title: Low PHLDA3 expression in oesophageal squamous cell carcinomas is associated with poor prognosis.
Results indicate that tumor suppressor PHLDA3-mediated pathway is important in the development of pancreatic neuroendocrine tumors (PanNETs).
Title: PHLDA3 is a novel tumor suppressor of pancreatic neuroendocrine tumors.
findings indicate somatic mutation of PHLDA3 is rare in common cancer types; PHLDA3 expression was lost in 22% of prostate cancers; these results indicate that PHLDA3 are altered in prostate cancers by loss of expression
Title: Expressional and mutational analysis of PHLDA3 gene in common human cancers.
Study identifies PHLDA3 as a p53 target gene that encodes a PH domain-only protein and finds that PHLDA3 competes with the PH domain of Akt for binding of membrane lipids, inhibiting Akt translocation to the cellular membrane and activation.
Title: PH domain-only protein PHLDA3 is a p53-regulated repressor of Akt.

Submit: New GeneRIF Correction

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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Homology

Homologs of the PHLDA3 gene: The PHLDA3 gene is conserved in chimpanzee, Rhesus monkey, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 215 organisms have orthologs with human gene PHLDA3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-5-phosphate binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
negative regulation of protein kinase B signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of protein kinase B signaling	IDA Inferred from Direct Assay more info	PubMed
positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pleckstrin homology-like domain family A member 3

Names: TDAG51/Ipl homolog 1; pleckstrin homology-like domain, family A, member 2

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_012396.5 → NP_036528.1 pleckstrin homology-like domain family A member 3

See identical proteins and their annotated locations for NP_036528.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC096677, AF151100, AI624156, BC014390, BC033874, BC068273, BE778799, BE892338, BQ000725, BX090314

Consensus CDS

CCDS1412.1

UniProtKB/Swiss-Prot

Q9Y5J5

Related

ENSP00000356280.3, ENST00000367311.5

Conserved Domains (1) summary

smart00233
Location:9 → 88

PH; Pleckstrin homology domain

RNA

NR_073080.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an additional exon in the 3' UTR. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC096677, CN356697