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FLASH GENE
Symbol HOXC13 contributors: mct - updated : 05-12-2012
HGNC name homeo box C13
HGNC id 5125
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
helix-turn-helix, DNA binding domain
HOMOLOGY
Homologene
FAMILY ABD-B homeobox family
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
  • HOXC13 and FOXQ1 control medulla differentiation of the hair through a common regulatory pathway
  • have an affinity for a DNA fragment corresponding to the sequence covered by the pre-replicative complex of the human lamin B2 replication origin
  • importance of HOXC13 in hair and nail development
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound to TAAT and TTAT core motifs concentrated in the proximal promoter region of hair keratin gene
  • binds the lamin B2 replication origin and the origins located near the TOP1 and MCM4 genes in asynchronously growing cells, whereas it does not bind these origins in G(0) resting cells, consistently with its involvement in origin function
  • HOXC13-dependent activation of FOXN1 is part of a regulatory cascade controlling the expression of terminal differentiation markers
  • can regulate, directly or via the FOXN1 transcription factor, the expression of a number of hair and nail keratins, keratin-associated proteins, and desmosomal cadherins
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EDHN3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with NUP98 in t(11;12) (p15;q13) in acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Hoxc13-null mice and transgenic Hoxc13-overexpressing mice presented with alopecia, indicating that Hoxc13 is a vital regulator in hair morphogenesis and postnatal cycling