CREB3L1 (cAMP responsive element binding protein 3 like 1)

Gene

• Entrez ID: 90993
• Gene name: CAMP responsive element binding protein 3 like 1
• Gene symbol: CREB3L1
• Synonyms: OASIS, OI16
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: 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. [provided by RefSeq, Jun 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779809838	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1555222973	AAG>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440882	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IDA	27121396
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	27121396
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0003682	Function	Chromatin binding	ISS
GO:0005515	Function	Protein binding	IPI	21516116, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	25310401
GO:0005634	Component	Nucleus	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	16236796
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007275	Process	Multicellular organism development	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	27121396
GO:0016020	Component	Membrane	IDA	25310401
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	25310401
GO:0035497	Function	CAMP response element binding	IBA	21873635
GO:0035497	Function	CAMP response element binding	ISS
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IDA	27121396
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	27121396
GO:0046332	Function	SMAD binding	IPI	25310401
GO:0070278	Process	Extracellular matrix constituent secretion	ISS
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1903671	Process	Negative regulation of sprouting angiogenesis	IGI	27121396
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 616215
• HGNC: 18856
• e!Ensembl: ENSG00000157613

Protein

• UniProt ID: Q96BA8
• Protein name: Cyclic AMP-responsive element-binding protein 3-like protein 1 (cAMP-responsive element-binding protein 3-like protein 1) (Old astrocyte specifically-induced substance) (OASIS) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 1]
• Protein function: Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3' (PubMed:21767813). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Directly binds to the UPR element (UPRE)-like sequence in an osteoblast-specific COL1A1 promoter region and induces its transcription. Does not regulate COL1A1 in other tissues, such as skin (By similarity). Required to protect astrocytes from ER stress-induced cell death. In astrocytes, binds to the cAMP response element (CRE) of the BiP/HSPA5 promoter and participate in its transcriptional activation (By similarity). Required for TGFB1 to activate genes involved in the assembly of collagen extracellular matrix (PubMed:25310401). ; (Microbial infection) May play a role in limiting virus spread by inhibiting proliferation of virus-infected cells. Upon infection with diverse DNA and RNA viruses, inhibits cell-cycle progression by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (PubMed:21767813).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00170	bZIP_1	288 → 351	bZIP transcription factor	Coiled-coil

• Sequence:

  MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFD
  DPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALG
  HKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQL
  PVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
  ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKN
  KISAQESRRKKKEYVECLEKKVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNK
  ISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
  PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
  YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS

• Sequence length: 519