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ATXN1 | ataxin 1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function (815 aa) | |||
SNX25 | sorting nexin 25; May be involved in several stages of intracellular trafficking (By similarity) (840 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) | |||
ERCC3 | excision repair cross-complementing rodent repair deficiency, complementation group 3; ATP-dependent 3’-5’ DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage (782 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) | |||
SIX5 | SIX homeobox 5; Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5’-GGTGTCAG-3’ motif present in the ARE regulatory element of ATP1A1. Binds a 5’- TCA[AG][AG]TTNC-3’ motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity) (739 aa) | |||
SOX2 | SRY (sex determining region Y)-box 2; Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiat [...] (317 aa) | |||
EYA2 | eyes absent homolog 2 (Drosophila) (538 aa) | |||
PAX4 | paired box 4; Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity (343 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) | |||
HMGB1 | high mobility group box 1; DNA binding proteins that associates with chromatin and has the ability to bend DNA. Binds preferentially single-stranded DNA. Involved in V(D)J recombination by acting as a cofactor of the RAG complex. Acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS). Heparin-binding protein that has a role in the extension of neurite-type cytoplasmic processes in developing cells (By similarity) (215 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) | |||
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) | |||
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) | |||
DUX4L4 | double homeobox 4 like 4 (483 aa) | |||
ENSG00000214325 | Uncharacterized protein (152 aa) | |||
DUX4 | double homeobox 4 (485 aa) | |||
DUX4L7 | double homeobox 4 like 7 (485 aa) | |||
DUX4L3 | double homeobox 4 like 3 (485 aa) | |||
DUXA | double homeobox A; Putative transcription factor (By similarity) (204 aa) |