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

Gene ID: 22822, updated on 10-Dec-2024

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
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Genomic context

See PHLDA1 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902969 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:76371254-76372453 Neighboring gene uncharacterized LOC105369847 Neighboring gene Sharpr-MPRA regulatory region 1339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6674 Neighboring gene PHLDA1 antisense RNA 1 Neighboring gene PHLDA1 divergent transcript Neighboring gene nucleosome assembly protein 1 like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:76447490-76447990 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:76449120-76450032 Neighboring gene DENR pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC131738

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

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.

mRNA and Protein(s)

  1. NM_007350.3NP_031376.3  pleckstrin homology-like domain family A member 1

    See identical proteins and their annotated locations for NP_031376.3

    Status: REVIEWED

    Source sequence(s)
    AC011611, DR002699
    Consensus CDS
    CCDS31861.1
    UniProtKB/Swiss-Prot
    A1A4G9, Q15184, Q2TAN2, Q8WV24, Q9NZ17
    Related
    ENSP00000266671.5, ENST00000266671.10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    76025447..76031776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    76000528..76006853 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)