CREB3L1
Cyclic AMP-responsive element-binding protein 3-like protein 1
Also known as: CR3L1_HUMAN, OASIS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96BA8
- Gene
- CREB3L1
- Ensembl
- ENSG00000157613
- Chromosome
- 11
- Canonical length
- 519 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
519 residues, UniProt reviewed canonical sequence.
>Q96BA8|CREB3L1
1 MDAVLEPFPA DRLFPGSSFL DLGDLNESDF LNNAHFPEHL DHFTENMEDF SNDLFSSFFD
61 DPVLDEKSPL LDMELDSPTP GIQAEHSYSL SGDSAPQSPL VPIKMEDTTQ DAEHGAWALG
121 HKLCSIMVKQ EQSPELPVDP LAAPSAMAAA AAMATTPLLG LSPLSRLPIP HQAPGEMTQL
181 PVIKAEPLEV NQFLKVTPED LVQMPPTPPS SHGSDSDGSQ SPRSLPPSSP VRPMARSSTA
241 ISTSPLLTAP HKLQGTSGPL LLTEEEKRTL IAEGYPIPTK LPLTKAEEKA LKRVRRKIKN
301 KISAQESRRK KKEYVECLEK KVETFTSENN ELWKKVETLE NANRTLLQQL QKLQTLVTNK
361 ISRPYKMAAT QTGTCLMVAA LCFVLVLGSL VPCLPEFSSG SQTVKEDPLA ADGVYTASQM
421 PSRSLLFYDD GAGLWEDGRS TLLPMEPPDG WEINPGGPAE QRPRDHLQHD HLDSTHETTK
481 YLSEAWPKDG GNGTSPDFSH SKEWFHDRDL GPNTTIKLSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CREB3L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.66
- Highest tissue expression
- 126 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 126 nTPM
- salivary gland: 80 nTPM
- stomach: 64 nTPM
- prostate: 41 nTPM
- rectum: 41 nTPM
- cervix: 41 nTPM
Single-cell type
- breast lactating cells: 607 nCPM
- goblet cells: 406 nCPM
- prostatic club cells: 236 nCPM
- endometrial luminal cells: 194 nCPM
- pancreatic acinar cells: 191 nCPM
- respiratory secretory cells: 182 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 19 nTPM
- cerebral cortex: 16 nTPM
- midbrain: 13 nTPM
- pons: 11 nTPM
- basal ganglia: 11 nTPM
- hippocampal formation: 10 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CREB3L1.
Disease | AllUniProt
Conditions CREB3L1 is implicated in, by any mechanism.
- Osteogenesis imperfecta 16 (OI16) MIM:616229
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 363 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 16
- Osteogenesis imperfecta
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum unfolded protein response
- extracellular matrix constituent secretion
- mitotic G2 DNA damage checkpoint signaling
- negative regulation of DNA-templated transcription
- negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
- negative regulation of fibroblast growth factor receptor signaling pathway
- negative regulation of gene expression
- negative regulation of sprouting angiogenesis
- osteoblast differentiation
- positive regulation of collagen biosynthetic process
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- response to endoplasmic reticulum stress
Molecular functions
- cAMP response element binding
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- sequence-specific double-stranded DNA binding
- SMAD binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CREB3L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CREB3L1 as an antibody target. Whether an autoantibody or antibody against CREB3L1 could matter depends on whether native CREB3L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CREB3L1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CREB3L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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