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

    Gene ID: 23612, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:8934
    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
    Summary
    Enables phosphatidylinositol phosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in fat (RPKM 24.2), esophagus (RPKM 11.1) and 22 other tissues See more
    Orthologs
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    Genomic context

    See PHLDA3 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201464278..201469188, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (200722059..200726971, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201433406..201438316, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2313 Neighboring gene troponin I1, slow skeletal type Neighboring gene peptidyl-prolyl cis-trans isomerase NIMA-interacting 4-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201430707-201431289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201437987-201438701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2320 Neighboring gene cysteine and glycine rich protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1692 Neighboring gene uncharacterized LOC124904484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2321 Neighboring gene CSRP1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201487479-201487990 Neighboring gene ribosomal protein S10 pseudogene 7

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_012396.5NP_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
      B2R5A4, Q53HD6, Q8NBW9, Q9Y5J5
      Related
      ENSP00000356280.3, ENST00000367311.5
      Conserved Domains (1) summary
      smart00233
      Location:988
      PH; Pleckstrin homology domain

    RNA

    1. NR_073080.2 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

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201464278..201469188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      200722059..200726971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)