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SIX4 | SIX homeobox 4 (781 aa) | |||
CSNK1G2 | casein kinase 1, gamma 2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteas [...] (415 aa) | |||
DHH | desert hedgehog; Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development (396 aa) | |||
LRRC46 | leucine rich repeat containing 46 (321 aa) | |||
IHH | Indian hedgehog; Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification- may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity) (411 aa) | |||
SHH | sonic hedgehog; Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the constitutive signaling activity of SMO. Also regulates another target, the gli oncogene. Intercellular signal essential for a variety of patterning events during development- signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- [...] (462 aa) | |||
CSNK1G1 | casein kinase 1, gamma 1; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN (422 aa) | |||
EYA2 | eyes absent homolog 2 (Drosophila) (538 aa) | |||
EYA1 | eyes absent homolog 1 (Drosophila); Tyrosine phosphatase that specifically dephosphorylates ’Tyr-142’ of histone H2AX (H2AXY142ph). ’Tyr-142’ phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be [...] (592 aa) | |||
EYA4 | eyes absent homolog 4 (Drosophila); Tyrosine phosphatase that specifically dephosphorylates ’Tyr-142’ of histone H2AX (H2AXY142ph). ’Tyr-142’ phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By si [...] (639 aa) | |||
CSNK1G3 | casein kinase 1, gamma 3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity) (455 aa) | |||
MIXL1 | Mix paired-like homeobox; Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity) (232 aa) | |||
TSHZ2 | teashirt zinc finger homeobox 2; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential) (1034 aa) | |||
EYA3 | eyes absent homolog 3 (Drosophila); Tyrosine phosphatase that specifically dephosphorylates ’Tyr-142’ of histone H2AX (H2AXY142ph). ’Tyr-142’ phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, [...] (573 aa) | |||
PAX7 | paired box 7; Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation (By similarity) (520 aa) | |||
KDM6A | lysine (K)-specific demethylase 6A; Histone demethylase that specifically demethylates ’Lys- 27’ of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 ’Lys-27’. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of ’Lys-27’ of histone H3 is concomitant with methylation of ’Lys-4’ of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (1401 aa) | |||
PAX6 | paired box 6; Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes (436 aa) | |||
PAX3 | paired box 3 (505 aa) | |||
DUX4L2 | double homeobox 4 like 2 (485 aa) | |||
TCOF1 | Treacher Collins-Franceschetti syndrome 1; May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex (By similarity). May participate in certain stages of ribosome biogenesis (1488 aa) | |||
ENSG00000214325 | Uncharacterized protein (152 aa) | |||
DUX4L6 | double homeobox 4 like 6 (485 aa) | |||
DUX4L7 | double homeobox 4 like 7 (485 aa) | |||
DUX4L3 | double homeobox 4 like 3 (485 aa) | |||
DUX4L5 | double homeobox 4 like 5 (485 aa) | |||
DUXA | double homeobox A; Putative transcription factor (By similarity) (204 aa) |