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FLASH GENE
Symbol PHLDA1 contributors: mct/shn - updated : 25-07-2012
HGNC name pleckstrin homology-like domain, family A, member 1
HGNC id 8933
Location 12q21.2      Physical location : 76.419.227 - 76.425.556
Synonym name
  • T cell death associated gene 51 protein
  • PQ-rich protein
  • PQR protein
  • proline-histidine rich protein
  • proline- and glutamine-rich protein
  • apoptosis-associated nuclear protein
  • pleckstrin homology-like domain family A member 1
  • Synonym symbol(s) TDAG51, DT1P1B11, PHRIP
    DNA
    TYPE functioning gene
    STRUCTURE 6.33 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • a strong CpG-rich bidirectional promoter within the first 582 nucleotides of the TDAG51 reference DNA complementary to RNA (cDNA)
  • promoter region of PHLDA1 shows an imperfect palindrome, an AP-1- and three SP-1-binding sites potentially regulated by estrogens
  • MAPPING cloned Y linked N status provisional
    Map cen - D12S1052 - D12S337 - PHLDA1 - D12S1660 - D12S1709 - qter
    Authors Gene Map (98)
    Physical map
    RAB21 12q13.3 RAB21, member RAS oncogene family FLJ12085 TPH2 12q15 tryptophan hydroxylase 2 TRHDE 12q15-q21 Homo sapiens thyrotropin-releasing hormone degrading ectoenzyme (TRHDE), mRNA. VENTX2P3 12q15 VENT-like homeobox 2 pseudogene 3 LOC387869 12 LOC387869 LOC390343 12 similar to microtubule-associated proteins 1A/1B light chain 3 KCNC2 19q13.4 potassium voltage-gated channel, Shaw-related subfamily, member 2 CAPS2 12q21.1 calcyphosphine 2 MGC26856 12q21.1 hypothetical protein MGC26856 MGC39497 12q21.1 hypothetical protein MGC39497 GLIPR1 12q21.1 GLI pathogenesis-related 1 (glioma) HRB2 12q21.1 HIV-1 rev binding protein 2 LOC390344 12 similar to 6-phosphogluconate dehydrogenase, decarboxylating LOC390345 12 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) PHLDA1 12q15 pleckstrin homology-like domain, family A, member 1 NAP1L1 12q15 nucleosome assembly protein 1-like 1 LOC121071 12q21.1 similar to NOGO-interacting mitochondrial protein FLJ23560 12q21.1 hypothetical protein FLJ23560 OSBPL8 12q14 oxysterol binding protein-like 8 LOC123031 12q21.1 similar to 60S ribosomal protein L21 HIP14 12q14-q15 similar to 60S ribosomal protein L21 CSRP2 12q21.1 cysteine and glycine-rich protein 2 LOC390346 12 similar to Ran-specific GTPase-activating protein (Ran binding protein 1) (RanBP1) E2F7 12q21.1 E2F transcription factor 7 NAV3 12q21.1 neuron navigator 3 MRPL11P3 12q21.2 neuron navigator 3 LOC390347 12 similar to ras related v-ral simian leukemia viral oncogene homolog A SYT1 12q15-q21 synaptotagmin I LOC338756 12q21.2 similar to hypothetical protein PAWR 12q21.2-q21.32 PRKC, apoptosis, WT1, regulator PPP1R12A 12q15-q21 protein phosphatase 1, regulatory (inhibitor) subunit 12A LOC120872 12q21.2 similar to ribosomal protein L7 LOC283308 12q21.2 similar to 60S ribosomal protein L26
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 5913 - 401 - 2000 10894922
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Digestiveintestinesmall intestine    Homo sapiens
     intestinelarge intestine    Homo sapiens
    Nervousbraindiencephalonamygdala  
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    Nervousglia Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage developmental neurons
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    proline histidine rich nuclear protein
    HOMOLOGY
    interspecies ortholog to Phlda1, Mus musculus
    ortholog to Phlda1, Rattus norvegicus
    ortholog to phlda1, Danio rerio
    ortholog to PHLDA1, Pan troglodytes
    intraspecies homolog to TSSC3
    Homologene
    FAMILY
    CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text
  • localized in the cytoplasm and the nucleoli
  • mainly expressed in the cytoplasm of neurons and glial cells
  • basic FUNCTION
  • involved in platelet cytoskeletal changes
  • may be playing an important role in the anti-apoptotic effects of insulin-like growth
  • plays a role in programmed cell death and tumorigenesis
  • shows an operon-like organization of two head-to-head oriented transcripts that are inversely regulated in T lymphocytes by a CpG-rich bidirectional promoter
  • possible role of this gene in the evolution of the pathology in intractable epilepsy
  • PHLDA1 upregulation strongly antagonizes Aurora-A-mediated oncogenic pathways
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HSF1
  • Aurora A
  • cell & other
    REGULATION
    Phosphorylated by AURKA
    Other regulated by estrogen via ER
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    is associated with estrogen receptor (ER) expression in breast carcinoma
    constitutional     --over  
    acts synergistically with AURKA inhibition in promoting cell death
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • putative epithelial stem cell marker in the human small and large intestine and contributes to migration and proliferation in colon cancer cells
  • Therapy target
    ANIMAL & CELL MODELS
  • downregulation of PHLDA1 is associated with estrogen receptor expression in breast carcinoma