QuickView for PTC;jsessionid=7D76EEE52B588B5B9DE3B0F5142DAE02;jsessionid=5313BC6529EDA198D5690C4A07E01D92 (gene)

Gene Symbol:

PTCH1 Homo sapiens

Full name:

patched 1

Synonyms:

BCNS, NBCCS, PTC, PTC1, PTCH, protein patched homolog 1

Genomic Location:

Chr 9: 97245085-97319068

Description:

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one...

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This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  FOXO1_02 ,  GATTGGY_NFY_Q6_01 ,  RTAAACA_FREAC2_01 ,  GTATTAT_MIR3693P ,  FREAC7_01 ,  DR3_Q4 ,  CCCAGAG_MIR326 ,  TTANTCA_UNKNOWN ,  ZIC1_01 ,  RSRFC4_01 ,  EFC_Q6 ,  VDR_Q3 ,  MIF1_01 ,  AML_Q6 ,  FOXO4_01 ,  MYCMAX_03 ,  CACGTG_MYC_Q2 ,  SRF_Q6 ,  CTATGCA_MIR153 ,  EVI1_04 ,  RSRFC4_Q2 ,  VDR_Q6 ,  GTACTGT_MIR101 ,  ZIC3_01 ,  CTTTGA_LEF1_Q2 ,  CYTAGCAAY_UNKNOWN ,  CTAWWWATA_RSRFC4_Q2 ,  RFX1_01 ,  TAAWWATAG_RSRFC4_Q2 ,  MEF2_02 ,  AR_Q6 ,  MYCMAX_02 ,  CEBPDELTA_Q6 ,  CEBPB_01 ,  DBP_Q6 ,  GCTTGAA_MIR498 ,  CACCCBINDINGFACTOR_Q6 ,  FOXO3_01 ,  CAGGTA_AREB6_01 ,  EGR_Q6 ,  GTTTGTT_MIR495 ,  GGGCGGR_SP1_Q6 ,  SRF_Q4 ,  E4F1_Q6 ,  NFY_Q6 ,  TGCCAAR_NF1_Q6 ,  GCCNNNWTAAR_UNKNOWN ,  TGTTTGY_HNF3_Q6 ,  SOX5_01 ,  PAX8_B ,  YCATTAA_UNKNOWN ,  RNGTGGGC_UNKNOWN ,  FREAC2_01 ,  POU3F2_02 ,  TTGTTT_FOXO4_01 ,  WGGAATGY_TEF1_Q6 ,  CHOP_01 ,  CART1_01 ,  RYTGCNNRGNAAC_MIF1_01 ,  IK2_01 ,  STAT5A_04 ,  MEF2_03 ,  IK1_01 ,  ZIC2_01 ,  CTGCAGY_UNKNOWN ,  KMCATNNWGGA_UNKNOWN ,  SRF_Q5_01 ,  TGACAGNY_MEIS1_01 ,  EGR1_01 ,  YWATTWNNRGCT_UNKNOWN ,  ISRE_01 ,  SMAD_Q6 ,  AACTTT_UNKNOWN ,  MZF1_02 ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  PAX2_02 ,  CCAWWNAAGG_SRF_Q4 ,  FOXO4_02 ,  PAX4_01 ,  SRF_C ,  GGGTGGRR_PAX4_03 ,  TCF11MAFG_01 ,  STAT5A_02 ,  TCF11_01 ,  OLF1_01

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Cytogenetic Map:

9q22.32

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