ZNF148
The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies.
Full Name
zinc finger protein 148
Function
Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.
Biological Process
Biological Process cellular defense response Source:ProtInc1 Publication
Biological Process gamete generation Source:Ensembl
Biological Process negative regulation of DNA-templated transcription Source:UniProtKB1 Publication
Biological Process negative regulation of gene expression Source:UniProtKB1 Publication
Biological Process negative regulation of transcription by RNA polymerase II Source:NTNU_SB1 Publication
Biological Process positive regulation of transcription by RNA polymerase II Source:Ensembl
Biological Process protein-containing complex assembly Source:Ensembl
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process substantia nigra development Source:UniProtKB1 Publication
Cellular Location
Nucleus
Involvement in disease
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF):
An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.
PTM
Sumoylated with SUMO2. Desumoylated by SENP3, resulting in the stimulation of transcription of its target genes (By similarity).
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