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FLASH GENE
Symbol NIPAL4 contributors: mct/npt - updated : 24-08-2011
HGNC name NIPA-like domain containing 4
HGNC id 28018
Corresponding disease
ARCI6 congenital ichthyosis, autosomal recessive 6
Location 5q33.3      Physical location : 156.887.026 - 156.901.729
Genatlas name ichthyin protein
Synonym symbol(s) LOC348938, DUF803.2, ICTH, ICHYN, ICHTHYIN
DNA
TYPE functioning gene
STRUCTURE 14.70 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3297 - 466 - 2007 17557927
5 - 3232 - 447 - 2007 17557927
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouthtongue   
Nervousbrain   highly
Skin/Tegumentskin   highly Homo sapiens
Urinarybladder    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningepidermisstratum granulosumhighly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight TM domains
    • HOMOLOGY
    intraspecies paralog to NIPA2
    paralog to SPG6
    Homologene
    FAMILY
  • NIPA family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be involved in the formation of the permeability barrier of the skin, an important protection against water loss and physical injury
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    hepoxilin pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies paralog to NIPA2
    paralog to SPG6
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS