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

    Gene ID: 22822, updated on 2-Nov-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 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)

    NEW Try the new Transcript table

    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)