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FLASH GENE
Symbol PPHLN1 contributors: mlc/npt - updated : 02-10-2012
HGNC name periphilin 1
HGNC id 19369
Location 12q12      Physical location : 42.719.946 - 42.842.422
Synonym name
  • gastric cancer antigen Ga50
  • Cdc7 expression repressor
  • Synonym symbol(s) HSPC206, HSPC232, MGC48786, CR
    DNA
    TYPE functioning gene
    STRUCTURE 122.47 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC121014 12p11 HSA12cenp11 beta-tubulin 4Q (TUBB4Q) pseudogene LOC390305 12 hypothetical gene supported by BX537850; NM_000267 LOC144245 12q12 similar to alpha2-glucosyltransferase CPNE8 12q12 copine VIII LOC121216 12q12 similar to Sucrase-isomaltase, intestinal KIF21A 12q12 kinesin family member 21A LOC390306 12 similar to Rpl7a protein ABCD2 12q11-q12 ATP-binding cassette, sub-family D (ALD), member 2 FLJ40126 12q12 hypothetical protein FLJ40126 SLC2A13 12p11.23 solute carrier family 2 (facilitated glucose transporter), member 13 DKFZp434H2111 12q12 hypothetical protein DKFZp434H2111 LOC390307 12 similar to submaxillary apomucin MUC19 12q12 mucin 19 CNTN1 12q11.2-q12 contactin 1 DKFZp434B0417 12q12 similar to semaF cytoplasmic domain associated protein 3 LOC283464 12q12 hypothetical protein LOC283464 YAF2 12p11.23 YY1 associated factor 2 LOC283465 12q12 similar to hepatocellular carcinoma autoantigen MADP-1 12q12 MADP-1 protein PPHLN1 12q12 periphilin 1 PRICKLE1 12q12 prickle-like 1 (Drosophila) LOC390308 12 hypothetical gene supported by NM_018464 MRPS36P5 12q12 mitochondrial ribosomal protein S36 pseudogene ADAMTS20 12q12 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20 LOC387852 12 similar to 52 kDa repressor of the inhibitor of the protein kinase (p58IPK-interacting protein) (58 kDa interferon-induced protein kinase-interacting protein) (P52rIPK) (Death associated protein 4) (THAP domain protein 0) LOC390309 12 similar to elongation factor 1 alpha DKFZP434G1415 12q12 hypothetical protein DKFZp434G1415 IRAK4 12q12 interleukin-1 receptor-associated kinase 4 PTK9 12q12 PTK9 protein tyrosine kinase 9 DKFZp434K2435 12q12 hypothetical protein DKFZp434K2435 ZNF75B 12q13 zinc finger protein 75b NELL2 12q13.1-q13.12 NEL-like 2 (chicken) FKSG42 12q12 FKSG42 LOC51054 12q putative glycolipid transfer protein DKFZp313M0720 12q12-q13.11 hypothetical protein DKFZp313M0720 DKFZp686G052 SFRS2IP 12q12-q14.3 splicing factor, arginine/serine-rich 2, interacting protein SLC38A1 12p11.21 solute carrier family 38, member 1 SLC38A2 12q solute carrier family 38, member 2 LOC387853 12 hypothetical gene supported by BC014370
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 3484 52 458 - 2003 12853457
    gastric cancer antigen GA50
    11 splicing 1720 43 374 - 2003 12853457
    a longer N-terminus and a distinct and shorter C-terminus compared to isoform 1
    12 splicing 1677 - 367 - 2003 12853457
    a distinct and shorter C-terminus
    10 splicing 1555 - 319 - 2003 12853457
    a distinct N and C termini
    9 splicing 1338 - 258 - 2003 12853457
    a distinct N and C termini
    - - - - - - 2003 12853457
  • loss of exon 4
  • weak interactor with HDAC1, shows a suppressing effect on PPHLN1 activity
  • 12 - 3412 - 434 - 2003 12853457
    9 - 1620 - 348 - 2003 12853457
    8 - 1455 - 293 - 2003 12853457
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinelarge intestinecolon  
    Hearing/Equilibriumear   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines gastric adenocarcinoma
    fluid/secretion
    at STAGE
    physiological period embryo
    Text umbilical cord blood
    PROTEIN
    PHYSICAL PROPERTIES fibrous
    STRUCTURE
    motifs/domains
  • a putative nuclear localization signal (NLS)
  • a caspase recognition sequence
  • a potential nuclear export signal
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus LOC366975
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • nuclear in undifferentiated keratinocytes and localized to the cell periphery and at cell-cell junctions in differentiated keratinocytes
  • may constitute a new type of nuclear matrix
  • ubiquitously expressed nuclear protein with speckled distribution
  • basic FUNCTION
  • may function as a transcriptional co-repressor
  • incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layer of epidermis, suggesting a role in epithelial cell differentiation and a contribution in epidermal integrity
  • substrate of transglutaminase, involved in the cornification process
  • retards cell cycle progression mainly at the S-phase in part by transcriptionally repressing expression of CDC7, the key regulator of DNA replication, and in part by unknown mechanisms (
  • involved in multiple cellular functions, and the protein is broadly expressed during embryogenesis and in the adult brain
  • displays an antiapoptotic function by reducing caspase-3 activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PPL
  • binds to HDAC1 as well as SIN3A
  • interacts with periplakin, a precursor of the cornified cell envelope
  • novel interactor of SNCAIP
  • cell & other
    REGULATION
    repressed by cleaved by caspase-5 in vitro
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    downregulates CDC7 expression induces S-phase arrest
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS