Entrez Summary: This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [provided by RefSeq, Jul 2016].
UniProt Summary: Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity). {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
KRAB
zf-C2H2
GO Terms
negative regulation of DNA-binding transcription factor activity
chromatin binding
regulation of DNA-binding transcription factor activity
RNA polymerase II proximal promoter sequence-specific DNA binding
negative regulation of transcription by RNA polymerase II
negative regulation of molecular function
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process