Aliases for HEYL Gene
External Ids for HEYL Gene
Previous GeneCards Identifiers for HEYL Gene
This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for HEYL Gene
HEYL (Hes Related Family BHLH Transcription Factor With YRPW Motif-Like) is a Protein Coding gene. Diseases associated with HEYL include Glaucoma 1, Open Angle, E. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HEY2.
UniProtKB/Swiss-Prot for HEYL Gene
Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.