Camp Response Element-Binding Protein 3-Like 1

Alternative Names

  • CREB3L1
  • Old Astrocyte Specifically Induced Substance
  • Oasis
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OMIM Number

616215

NCBI Gene ID

90993

Uniprot ID

Q96BA8

Length

43,749 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Cyclic AMP-responsive element-binding protein 3-like protein 1

Molecular Mass

57005 Da

Amino Acid Count

519

Genomic Location

chr11:46,277,660-46,321,408

Gene Map Locus
11p11.2

Description

The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_052854.4:c.928_930AAG[2]LebanonNC_000011.10:g.46312636_46312638AAG[2]PathogenicPathogenicOsteogenesis Imperfecta, Type XVING_033264.1:g.39999_40001AAG[2]; NM_052854.4:c.928_930AAG[2]; NP_443086.1:p.Lys312del1555222973559483
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