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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
  • Cyclic AMP-Responsive Element-Binding Protein 3-Like Protein 1 3
  • 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 B Cell Receptor Signaling Pathway (sino) and Mitotic G1-G1/S phases. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is CREB3L2.

UniProtKB/Swiss-Prot for CREB3L1 Gene

  • 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).

Additional gene information for CREB3L1 Gene

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

Genomics for CREB3L1 Gene

GeneHancer (GH) Regulatory Elements for CREB3L1 Gene

Promoters and enhancers for CREB3L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J046270 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 -1.1 -1122 12.2 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A ZBTB7B ZNF766 ZNF143 SP5 CREB3L1 LINC02489 DGKZ CHST1 MADD LRP4 ARHGAP1 PACSIN3
GH11J046344 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.5 +72.3 72268 10.4 HDGF SMAD1 FOXA2 ARNT SIN3A ZNF2 YY1 E2F8 ZNF143 SP3 GC11P046351 DGKZ C11orf49 LOC105376662 ENSG00000255314 SNORD67 ENSG00000255447 ENSG00000254514 MDK CHRM4
GH11J046236 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -39.3 -39302 4.7 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B CBX5 ENSG00000254639 ENSG00000270060 RPS10P19 DDB2 CREB3L1 LINC02489 AMBRA1 ZNF408 LARGE2 DGKZ
GH11J046246 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -28.6 -28642 4.8 HDGF ATF1 PKNOX1 CLOCK ARNT ARID4B SIN3A YBX1 BRCA1 YY1 CREB3L1 LINC02489 LARGE2 MAPK8IP1 GC11P046245
GH11J046241 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -34.6 -34584 3.9 PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 GC11P046245 ENSG00000270060 DDB2 ZNF408 RPS10P19 LOC101928812 MDK AMBRA1 LINC02489 CREB3L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CREB3L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CREB3L1 gene promoter:
  • deltaCREB
  • CREB
  • AREB6
  • ATF6
  • STAT3
  • USF1

Genomic Locations for CREB3L1 Gene

Genomic Locations for CREB3L1 Gene
chr11:46,277,638-46,321,422
(GRCh38/hg38)
Size:
43,785 bases
Orientation:
Plus strand
chr11:46,299,212-46,342,972
(GRCh37/hg19)
Size:
43,761 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:
    • Interacts with SMAD4, the interaction takes place upon TGFB1 induction and SMAD4 acts as CREB3L1 coactivator to induce the expression of genes involved in assembly of collagen extracellular matrix.
    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

Post-translational modifications for CREB3L1 Gene

  • 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). RIP is induced by TGFB1 and ceramide (PubMed:25310401, PubMed:27499293).
  • 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.
  • Glycosylation at posLast=513513 and Asn492
  • Modification sites at PhosphoSitePlus

Other Protein References for CREB3L1 Gene

Antibody Products

  • R&D Systems Antibodies for CREB3L1 (OASIS/CREB3L1)
  • Abcam antibodies for CREB3L1
  • Boster Bio Antibodies for CREB3L1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CREB3L1

No data available for DME Specific Peptides for CREB3L1 Gene

Domains & Families for CREB3L1 Gene

Gene Families for CREB3L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

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 :
  • Belongs to the bZIP family. ATF subfamily.
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). 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).
UniProtKB/Swiss-Prot Function:
(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).

Phenotypes From GWAS Catalog for CREB3L1 Gene

Gene Ontology (GO) - Molecular Function for CREB3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 27121396
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with CREB3L1: view
genes like me logo Genes that share phenotypes with CREB3L1: view

Animal Models for CREB3L1 Gene

MGI Knock Outs for CREB3L1:

Animal Model Products

CRISPR Products

miRNA for CREB3L1 Gene

miRTarBase miRNAs that target CREB3L1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREB3L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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, ECO:0000269 PubMed:25310401}.
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, ECO:0000269 PubMed:25310401}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CREB3L1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CREB3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 27121396
GO:0005634 nucleus ISS,IEA --
GO:0005783 endoplasmic reticulum IDA 16236796
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA,IEA 25310401
genes like me logo Genes that share ontologies with CREB3L1: view

Pathways & Interactions for CREB3L1 Gene

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

Pathways by source 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:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001649 osteoblast differentiation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
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

mRNA/cDNA for CREB3L1 Gene

Unigene Clusters for CREB3L1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREB3L1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CREB3L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CREB3L1 Gene:

CREB3L1

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.

Evidence on tissue expression from TISSUES for CREB3L1 Gene

  • Intestine(4.7)
  • Lung(3.1)
  • Nervous system(2.2)
  • Heart(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CREB3L1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CREB3L1: view

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
chimpanzee
(Pan troglodytes)
Mammalia CREB3L1 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CREB3L1 34 33
  • 93.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CREB3L1 34 33
  • 91.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Creb3l1 16 34 33
  • 89.02 (n)
rat
(Rattus norvegicus)
Mammalia Creb3l1 33
  • 88.35 (n)
oppossum
(Monodelphis domestica)
Mammalia CREB3L1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CREB3L1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859610 33
  • 72.56 (n)
CREB3L1 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CREB3L1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia creb3l1 33
  • 64.25 (n)
zebrafish
(Danio rerio)
Actinopterygii creb3l1 34 33
  • 68.39 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CrebA 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea crh-2 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6977 34
  • 27 (a)
OneToMany
Cin.3640 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3640 33
Species where no ortholog for CREB3L1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CREB3L1: view image

Paralogs for CREB3L1 Gene

Paralogs for CREB3L1 Gene

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

  • CR3L1_HUMAN
  • E9PK33_HUMAN
  • H0YEU7_HUMAN
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 Variation AA Info Type
rs747612049 uncertain-significance, not specified 46,307,972(+) C/G/T coding_sequence_variant, missense_variant
rs776460030 uncertain-significance, not specified 46,316,363(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs79068197 benign, not specified 46,320,709(+) GGG/GGGG coding_sequence_variant, genic_downstream_transcript_variant, splice_acceptor_variant
rs1000040913 -- 46,301,721(+) G/T intron_variant
rs1000054123 -- 46,318,203(+) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv197e214 CNV gain 21293372
esv2744433 CNV deletion 23290073
esv2744434 CNV deletion 23290073
esv3626183 CNV gain 21293372
esv3626184 CNV gain 21293372
nsv554201 CNV loss 21841781
nsv554202 CNV loss 21841781
nsv825867 CNV gain 20364138

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)

Additional Variant Information for CREB3L1 Gene

Human Gene Mutation Database (HGMD)
CREB3L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CREB3L1

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

Disorders for CREB3L1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CREB3L1 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
myxofibrosarcoma
  • fibromyxosarcoma
osteogenesis imperfecta, type iii
  • oi3
sarcomatosis
kidney fibrosarcoma
  • fibrosarcoma of the kidney
small cell osteogenic sarcoma
  • round cell 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}.

Additional Disease Information for 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. Inverting the Topology of a Transmembrane Protein by Regulating the Translocation of the First Transmembrane Helix. (PMID: 27499293) Chen Q … Ye J (Molecular cell 2016) 3 4 58
  2. Sustained induction of collagen synthesis by TGF-β requires regulated intramembrane proteolysis of CREB3L1. (PMID: 25310401) Chen Q … Ye J (PloS one 2014) 3 4 58
  3. Activation of OASIS family, ER stress transducers, is dependent on its stabilization. (PMID: 22705851) Kondo S … Imaizumi K (Cell death and differentiation 2012) 3 4 58
  4. The membrane-bound transcription factor CREB3L1 is activated in response to virus infection to inhibit proliferation of virus-infected cells. (PMID: 21767813) Denard B … Ye J (Cell host & microbe 2011) 3 4 58
  5. OASIS is a transcriptional activator of CREB/ATF family with a transmembrane domain. (PMID: 12054625) Omori Y … Sugano S (Biochemical and biophysical research communications 2002) 3 4 58

Products for CREB3L1 Gene

Sources for CREB3L1 Gene

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