BAIT
HNF4A
FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14, RP5-1013A22.1
hepatocyte nuclear factor 4, alpha
GO Process (20)
GO Function (9)
GO Component (3)
Gene Ontology Biological Process
- blood coagulation [IDA]
- endocrine pancreas development [TAS]
- gene expression [TAS]
- glucose homeostasis [ISS]
- lipid homeostasis [IMP]
- negative regulation of cell growth [IMP]
- negative regulation of cell proliferation [IMP]
- ornithine metabolic process [IMP]
- phospholipid homeostasis [ISS]
- positive regulation of cholesterol homeostasis [ISS]
- positive regulation of transcription from RNA polymerase II promoter [IDA, IMP]
- positive regulation of transcription, DNA-templated [IDA]
- regulation of growth hormone receptor signaling pathway [NAS]
- regulation of insulin secretion [ISS]
- regulation of lipid metabolic process [IDA]
- regulation of transcription from RNA polymerase II promoter [IDA, IMP]
- response to glucose [ISS]
- transcription initiation from RNA polymerase II promoter [TAS]
- triglyceride homeostasis [ISS]
- xenobiotic metabolic process [IMP]
Gene Ontology Molecular Function- DNA binding [IDA]
- RNA polymerase II activating transcription factor binding [ISS]
- RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription [ISS]
- fatty acid binding [IDA]
- protein binding [IPI]
- protein homodimerization activity [IDA]
- receptor binding [IDA]
- sequence-specific DNA binding transcription factor activity [IDA]
- transcription regulatory region DNA binding [IDA]
- DNA binding [IDA]
- RNA polymerase II activating transcription factor binding [ISS]
- RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription [ISS]
- fatty acid binding [IDA]
- protein binding [IPI]
- protein homodimerization activity [IDA]
- receptor binding [IDA]
- sequence-specific DNA binding transcription factor activity [IDA]
- transcription regulatory region DNA binding [IDA]
Homo sapiens
PREY
DMD
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, GS1-19O24.1
dystrophin
GO Process (22)
GO Function (8)
GO Component (14)
Gene Ontology Biological Process
- cardiac muscle cell action potential [ISS]
- cardiac muscle contraction [IMP]
- cellular protein complex assembly [ISS]
- cellular protein localization [IMP]
- extracellular matrix organization [TAS]
- motile cilium assembly [TAS]
- muscle filament sliding [TAS]
- muscle organ development [NAS]
- negative regulation of peptidyl-cysteine S-nitrosylation [ISS]
- negative regulation of peptidyl-serine phosphorylation [ISS]
- peptide biosynthetic process [IDA]
- positive regulation of neuron differentiation [IMP]
- positive regulation of neuron projection development [IMP]
- positive regulation of sodium ion transmembrane transporter activity [ISS]
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [ISS]
- regulation of cellular response to growth factor stimulus [IMP]
- regulation of heart rate [IMP]
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [ISS]
- regulation of ryanodine-sensitive calcium-release channel activity [ISS]
- regulation of skeletal muscle contraction [ISS]
- regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [ISS]
- regulation of voltage-gated calcium channel activity [ISS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- actin cytoskeleton [TAS]
- cell surface [IDA]
- costamere [IDA]
- cytosol [TAS]
- dystrophin-associated glycoprotein complex [IDA, NAS, TAS]
- filopodium [IDA]
- filopodium membrane [IDA]
- lateral plasma membrane [TAS]
- membrane raft [TAS]
- nucleus [IDA, TAS]
- plasma membrane [TAS]
- protein complex [IDA]
- sarcolemma [IDA]
- syntrophin complex [TAS]
Homo sapiens
Two-hybrid
Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.
Publication
Widespread macromolecular interaction perturbations in human genetic disorders.
How disease-associated mutations impair protein activities in the context of biological networks remains mostly undetermined. Although a few renowned alleles are well characterized, functional information is missing for over 100,000 disease-associated variants. Here we functionally profile several thousand missense mutations across a spectrum of Mendelian disorders using various interaction assays. The majority of disease-associated alleles exhibit wild-type chaperone binding profiles, ... [more]
Cell Apr. 23, 2015; 161(3);647-60 [Pubmed: 25910212]
Throughput
- High Throughput
Curated By
- BioGRID