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FLASH GENE
Symbol SIX4 contributors: mct - updated : 22-01-2014
HGNC name sine oculis homeobox homolog 4 (Drosophila)
HGNC id 10890
Location 14q23.1      Physical location : 61.176.255 - 61.190.852
Synonym symbol(s) AREC3
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 14.78 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
DACT1 14q22.3 dapper homolog 1, antagonist of beta-catenin (xenopus) LOC387991 14 similar to ribosomal protein L31 LOC390482 14 similar to Aldo-keto reductase family 1, member B1 PPIAP5 14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 DAAM1 14q22.3 dishevelled associated activator of morphogenesis 1 GPR135 14q23.1 G protein-coupled receptor 135 FLJ25436 14q23.1 hypothetical protein FLJ25436 C14orf100 14q22.3 chromosome 14 open reading frame 100 RTN1 14q21-q22 reticulon 1 FLJ46156 14q23.1 FLJ46156 protein C14orf135 14q23.1 chromosome 14 open reading frame 135 DHRS7 14q23.1 dehydrogenase/reductase (SDR family) member 7 PSMA3P 14 proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene PPM1A 14q22.3-q23.1 protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform RBM8B 14q22.1-q22.3 RNA binding motif protein 8B pseudogene C14orf39 14q23.1 chromosome 14 open reading frame 39 LOC390483 14 similar to sal-like 4 SIX6 14q22.3-q23 sine oculis homeobox homolog 6 (Drosophila) LOC387992 14 LOC387992 SIX1 14q22-q23 sine oculis homeobox homolog 1 (Drosophila) SIX4 14q23 sine oculis homeobox homolog 4 (Drosophila) MNAT1 14q23 menage a trois 1 (CAK assembly factor) MAD2L1P 14 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene SRMP2 14 spermidine synthase pseudogene 2 SLC38A6 14q23.1 solute carrier family 38, member 6 LOC161291 14q23.1 hypothetical protein LOC161291 PRKCH 14q22-q23 protein kinase C, eta HIF1A 14q21-q24 hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) SNAPC1 14q22 small nuclear RNA activating complex, polypeptide 1, 43kDa LOC122867 14q23.1 similar to cytochrome c oxidase subunit IV (COXIV) pseudogene (E.C. 1.9.3.1) MOCS3P 14 molybdenum cofactor synthesis 3 pseudogene SYT14L 14q23.2 synaptotagmin XIV-like LOC390484 14 similar to ATP synthase alpha subunit KCNH5 14q23.1 potassium voltage-gated channel, subfamily H (eag-related), member 5
regionally located mapped in a cluster with the SIX1 and SIX6 genes
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 6277 - 781 - -
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuterus  moderately
 female systembreastmammary gland moderately
 female systemplacenta  moderately
Respiratorylung   moderately
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a six domain
  • a helix-turn-helix (homeo) DNA binding domain
  • an intervening region of unknown function
  • a transactivation domain
  • HOMOLOGY
    interspecies homolog to Drosophila sine oculis homeo box SIX4
    ortholog to rattus Six 4 predicted
    ortholog to murine Six4
    Homologene
    FAMILY
  • SIX/Sine oculis homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • putatively involved in differentiation or maturation of neuronal cells and retinal development
  • SIX1 and SIX4 regulate SLC12A2
  • SIX1 and SIX4 may act synergistically to mediate olfactory placode specification and patterning through FGF and BMP signaling pathways
  • SIX1 and SIX4 are essential global regulators of muscle gene expression, as well as a central switch to drive the skeletal muscle fast phenotype during fetal development
  • SIX1 and SIX4 function synergistically to form gustatory papillae during development of the tongue
  • SMARCD3-SIX4 transcriptional complex inducing DEPTOR and mediating activation of AKT1 and glycolytic metabolism by SMARCD3 in a cell-autonomous manner
  • SIX1 and SIX4 are required for male gonadal differentiation
  • combinatorial expression of SIX1, SIX2, and SIX4 is required for the molecular programs governing craniofacial and cerebral development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • morphogenesis
  • eye development
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • SIX4 cooperates with SIX1 in the metanephric mesenchyme to regulate the level of GDNF expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Six1/Six4-deficient mice exhibited more severe kidney phenotypes than the Six1-deficient mice