CREB3

Chr 9

cAMP responsive element binding protein 3

Also known as: LUMAN, LZIP, sLZIP

NCBI Gene: 10488 ENSG00000107175 UniProt: O43889

CREB3 encodes an endoplasmic reticulum-bound transcription factor that regulates the unfolded protein response, cell proliferation, and leukocyte migration by directly binding DNA and activating target gene transcription. Mutations cause autosomal recessive osteogenesis imperfecta with bone fragility and skeletal deformities. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429