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Aliases for CREB3L1 Gene

Aliases for CREB3L1 Gene

  • CAMP Responsive Element Binding Protein 3-Like 1 2 3 5
  • CAMP-Responsive Element-Binding Protein 3-Like Protein 1 3 4
  • Old Astrocyte Specifically-Induced Substance 3 4
  • OASIS 3 4
  • BBF-2 Homolog (Drosophila) 2
  • BBF-2 Homolog 3

External Ids for CREB3L1 Gene

Previous GeneCards Identifiers for CREB3L1 Gene

  • GC11P046263
  • GC11P046256
  • GC11P046255
  • GC11P046006

Summaries for CREB3L1 Gene

Entrez Gene Summary for CREB3L1 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]

GeneCards Summary for CREB3L1 Gene

CREB3L1 (CAMP Responsive Element Binding Protein 3-Like 1) is a Protein Coding gene. Diseases associated with CREB3L1 include Myxofibrosarcoma and Osteogenesis Imperfecta, Type Iii. Among its related pathways are TNF signaling pathway and cAMP signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is CREB3L3.

UniProtKB/Swiss-Prot for CREB3L1 Gene

  • Transcription factor involved in unfolded protein response (UPR). 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). 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). Binds the DNA consensus sequence 5-GTGXGCXGC-3 (PubMed:21767813).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREB3L1 Gene

Genomics for CREB3L1 Gene

Regulatory Elements for CREB3L1 Gene

Enhancers for CREB3L1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CREB3L1 on UCSC Golden Path with GeneCards custom track

Promoters for CREB3L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CREB3L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CREB3L1 Gene

Chromosome:
11
Start:
46,277,638 bp from pter
End:
46,321,422 bp from pter
Size:
43,785 bases
Orientation:
Plus strand

Genomic View for CREB3L1 Gene

Genes around CREB3L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CREB3L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CREB3L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CREB3L1 Gene

Proteins for CREB3L1 Gene

  • Protein details for CREB3L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BA8-CR3L1_HUMAN
    Recommended name:
    Cyclic AMP-responsive element-binding protein 3-like protein 1
    Protein Accession:
    Q96BA8
    Secondary Accessions:
    • Q8N2D5
    • Q96CP0

    Protein attributes for CREB3L1 Gene

    Size:
    519 amino acids
    Molecular mass:
    57005 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11681.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CREB3L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CREB3L1 Gene

Proteomics data for CREB3L1 Gene at MOPED

Post-translational modifications for CREB3L1 Gene

  • N-glycosylated.
  • Ubiquitinated by HRD1/SYVN1; undergoes Lys-48-linked ubiquitination, followed by rapid proteasomal degradation under normal conditions. Upon ER stress, SYVN1 E3 ubiquitin-protein ligase dissociates from its substrate, ubiquitination does not occur and CREB3L1 is stabilized.
  • Upon ER stress, translocated to the Golgi apparatus, where it is processed by regulated intramembrane proteolysis (RIP) to release the cytosol-facing N-terminal transcription factor domain. The cleavage is performed sequentially by site-1 and site-2 proteases (S1P/MBTPS1 and S2P/MBTPS2).
  • Glycosylation at Asn 492 and Asn 513
  • Modification sites at PhosphoSitePlus

Other Protein References for CREB3L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CREB3L1 (OASIS/CREB3L1)

No data available for DME Specific Peptides for CREB3L1 Gene

Domains & Families for CREB3L1 Gene

Gene Families for CREB3L1 Gene

Protein Domains for CREB3L1 Gene

Suggested Antigen Peptide Sequences for CREB3L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BA8

UniProtKB/Swiss-Prot:

CR3L1_HUMAN :
  • Contains 1 bZIP (basic-leucine zipper) domain.
  • Belongs to the bZIP family. ATF subfamily.
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. ATF subfamily.
genes like me logo Genes that share domains with CREB3L1: view

Function for CREB3L1 Gene

Molecular function for CREB3L1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in unfolded protein response (UPR). 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). 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). Binds the DNA consensus sequence 5-GTGXGCXGC-3 (PubMed:21767813).

Gene Ontology (GO) - Molecular Function for CREB3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with CREB3L1: view
genes like me logo Genes that share phenotypes with CREB3L1: view

Human Phenotype Ontology for CREB3L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CREB3L1 Gene

MGI Knock Outs for CREB3L1:

Animal Model Products

CRISPR Products

miRNA for CREB3L1 Gene

miRTarBase miRNAs that target CREB3L1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CREB3L1 Gene

Localization for CREB3L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CREB3L1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=ER membrane resident protein. Upon ER stress, translocated to the Golgi apparatus where it is cleaved. The cytosolic N-terminal fragment (processed cyclic AMP-responsive element-binding protein 3-like protein 1) is transported into the nucleus. {ECO:0000269 PubMed:12054625, ECO:0000269 PubMed:16417584, ECO:0000269 PubMed:21767813}.
Processed cyclic AMP-responsive element-binding protein 3-like protein 1: Nucleus. Note=Upon ER stress, transported into the nucleus. {ECO:0000269 PubMed:12054625, ECO:0000269 PubMed:21767813, ECO:0000269 PubMed:24079343}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CREB3L1 Gene COMPARTMENTS Subcellular localization image for CREB3L1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
cytosol 3
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for CREB3L1 Gene

Pathways & Interactions for CREB3L1 Gene

genes like me logo Genes that share pathways with CREB3L1: view

Pathways by source for CREB3L1 Gene

Interacting Proteins for CREB3L1 Gene

SIGNOR curated interactions for CREB3L1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CREB3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation ISS --
GO:0006366 transcription from RNA polymerase II promoter ISS --
GO:0030968 endoplasmic reticulum unfolded protein response IEA,ISS --
genes like me logo Genes that share ontologies with CREB3L1: view

Drugs & Compounds for CREB3L1 Gene

(1) Drugs for CREB3L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with CREB3L1: view

Transcripts for CREB3L1 Gene

Unigene Clusters for CREB3L1 Gene

CAMP responsive element binding protein 3-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CREB3L1 Gene

No ASD Table

Relevant External Links for CREB3L1 Gene

GeneLoc Exon Structure for
CREB3L1
ECgene alternative splicing isoforms for
CREB3L1

Expression for CREB3L1 Gene

mRNA expression in normal human tissues for CREB3L1 Gene

mRNA differential expression in normal tissues according to GTEx for CREB3L1 Gene

This gene is overexpressed in Pancreas (x5.1), Stomach (x4.6), and Minor Salivary Gland (x4.4).

Protein differential expression in normal tissues from HIPED for CREB3L1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CREB3L1 Gene



SOURCE GeneReport for Unigene cluster for CREB3L1 Gene Hs.405961

mRNA Expression by UniProt/SwissProt for CREB3L1 Gene

Q96BA8-CR3L1_HUMAN
Tissue specificity: Expressed in several tissues, with highest levels in pancreas and prostate. Expressed at relatively lower levels in brain.
genes like me logo Genes that share expression patterns with CREB3L1: view

Protein tissue co-expression partners for CREB3L1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CREB3L1 Gene

Orthologs for CREB3L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CREB3L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CREB3L1 35
  • 91.84 (n)
  • 94.03 (a)
CREB3L1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CREB3L1 35
  • 93.58 (n)
  • 94.98 (a)
CREB3L1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Creb3l1 35
  • 89.02 (n)
  • 92.29 (a)
Creb3l1 16
Creb3l1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CREB3L1 35
  • 99.42 (n)
  • 99.04 (a)
CREB3L1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Creb3l1 35
  • 88.35 (n)
  • 91.12 (a)
oppossum
(Monodelphis domestica)
Mammalia CREB3L1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CREB3L1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859610 35
  • 72.56 (n)
  • 73.49 (a)
CREB3L1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CREB3L1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creb3l1 35
  • 64.25 (n)
  • 65.57 (a)
zebrafish
(Danio rerio)
Actinopterygii creb3l1 35
  • 68.39 (n)
  • 68.24 (a)
creb3l1 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CrebA 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crh-2 36
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3640 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6977 36
  • 27 (a)
OneToMany
Species with no ortholog for CREB3L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CREB3L1 Gene

ENSEMBL:
Gene Tree for CREB3L1 (if available)
TreeFam:
Gene Tree for CREB3L1 (if available)

Paralogs for CREB3L1 Gene

Paralogs for CREB3L1 Gene

(4) SIMAP similar genes for CREB3L1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CREB3L1: view

Variants for CREB3L1 Gene

Sequence variations from dbSNP and Humsavar for CREB3L1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs35652107 - 46,317,460(-) GTCTG(C/T)GGCCA reference, missense
rs1044796 -- 46,321,392(+) AAAAC(C/T)AAAAA utr-variant-3-prime
rs2288249 -- 46,312,688(+) GGAGG(A/G)GTGGG intron-variant
rs2303434 -- 46,310,945(+) GGCTG(A/G)TGCAA intron-variant
rs2303435 -- 46,310,953(+) CAAGC(C/T)CATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CREB3L1 Gene

Variant ID Type Subtype PubMed ID
nsv825867 CNV Gain 20364138
esv2744433 CNV Deletion 23290073
esv2744434 CNV Deletion 23290073

Variation tolerance for CREB3L1 Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.01; 68.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CREB3L1 Gene

Human Gene Mutation Database (HGMD)
CREB3L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREB3L1 Gene

Disorders for CREB3L1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CREB3L1 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
myxofibrosarcoma
  • fibromyxosarcoma
osteogenesis imperfecta, type iii
  • oi type iii
sarcomatosis
  • sarcomatosis nos
small cell osteogenic sarcoma
  • small cell osteosarcoma
conventional central osteosarcoma
  • conventional osteosarcoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CR3L1_HUMAN
  • Osteogenesis imperfecta 16 (OI16) [MIM:616229]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI16 is a severe form. {ECO:0000269 PubMed:24079343}. Note=The disease may be caused by mutations affecting the gene represented in this entry. OI16 affected patients show a genomic deletion encompassing CREB3L1 and the first exon of DGKZ. The absence of this exon does not affect all DGKZ isoforms, some are still produced at normal level. It cannot be ruled out that DGKZ could contribute to the phenotype, but in view of its role in bone formation, CREB3L1 is a strong OI16-causing candidate (PubMed:24079343). This hypothesis is corroborated by the observation of CREB3L1 knockout mice which exhibit features reminiscent of severe human osteogenesis imperfecta. {ECO:0000269 PubMed:24079343}.

Relevant External Links for CREB3L1

Genetic Association Database (GAD)
CREB3L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CREB3L1
genes like me logo Genes that share disorders with CREB3L1: view

No data available for Genatlas for CREB3L1 Gene

Publications for CREB3L1 Gene

  1. Activation of OASIS family, ER stress transducers, is dependent on its stabilization. (PMID: 22705851) Kondo S. … Imaizumi K. (Cell Death Differ. 2012) 3 4 67
  2. Identification of CREB3L1 as a Biomarker Predicting Doxorubicin Treatment Outcome. (PMID: 26110425) Denard B. … Ye J. (PLoS ONE 2015) 3
  3. Physiological functions of endoplasmic reticulum stress transducer OASIS in central nervous system. (PMID: 24242870) Saito A. (Anat Sci Int 2014) 3
  4. Recurrent EWSR1-CREB3L1 gene fusions in sclerosing epithelioid fibrosarcoma. (PMID: 24441665) Arbajian E. … Mertens F. (Am. J. Surg. Pathol. 2014) 3
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3

Products for CREB3L1 Gene

Sources for CREB3L1 Gene

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