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FLASH GENE
Symbol TMCO1 contributors: mct/npt - updated : 10-11-2014
HGNC name transmembrane and coiled-coil domains 1
HGNC id 18188
Corresponding disease
CFSMR craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Location 1q24.1      Physical location : 165.693.529 - 165.738.135
Synonym name
  • transmembrane and coiled-coil domains 4
  • xenogeneic cross-immune protein PCIA3
  • putative membrane protein
    • Synonym symbol(s) TMCC4, HP10122, PCIA3, PNAS-136, RP11-466F5.7
    DNA
    TYPE functioning gene
    STRUCTURE 44.61 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 4456 21 188 - 2010 19449125
    7 - 4678 - 176 - 2010 19449125
    7 - 4376 - 205 - 2010 19449125
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeanterior segment    Homo sapiens
     eyeretina    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • transmembrane and coiled-coil domains
    • HOMOLOGY
    Homologene
    FAMILY
  • TMCO1 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleolus
    text
  • endogenous protein localizes to the cytoplasm and nucleus, and in the nucleus, the protein localizes to the nucleoli
    • basic FUNCTION
  • may have a critical role in early fetal growth and development (Yoda 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CFSMR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS