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]
Function:
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.
Subcellular Location:
Nucleus.
Similarity:
Belongs to the HEY family.
Contains 1 basic helix-loop-helix (bHLH) domain.
Contains 1 Orange domain.
SWISS:
Q9NQ87
Gene ID:
26508
Database links:
Entrez Gene: 26508 Human
Entrez Gene: 538609 Cow
Entrez Gene: 56198 Mouse
Entrez Gene: 313575 Rat
SwissProt: Q2NL18 Cow
SwissProt: Q58CQ8 Cow
SwissProt: Q9NQ87 Human
SwissProt: Q9DBX7 Mouse
Unigene: 472566 Human
Unigene: 103615 Mouse
Unigene: 22252 Rat
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