Aliases for CREB3L3 Gene
Aliases for CREB3L3 Gene
External Ids for CREB3L3 Gene
- HGNC: 18855
- Entrez Gene: 84699
- Ensembl: ENSG00000060566
- OMIM: 611998
- UniProtKB: Q68CJ9
Previous GeneCards Identifiers for CREB3L3 Gene
- GC19P004104
- GC19P003917
Summaries for CREB3L3 Gene
-
This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
GeneCards Summary for CREB3L3 Gene
CREB3L3 (CAMP Responsive Element Binding Protein 3 Like 3) is a Protein Coding gene. Diseases associated with CREB3L3 include Hyperlipoproteinemia, Type V and Hepatocellular Carcinoma. Among its related pathways are Aldosterone synthesis and secretion and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CREB3L4.
UniProtKB/Swiss-Prot for CREB3L3 Gene
-
Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression.
Additional gene information for CREB3L3 Gene
- Monarch Initiative
- Search for CREB3L3 at DataMed
- Search for CREB3L3 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREB3L3 Gene
Genomics for CREB3L3 Gene
GeneHancer (GH) Regulatory Elements for CREB3L3 Gene
Promoters and enhancers for CREB3L3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CREB3L3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CREB3L3 gene promoter:
Regulatory Element Products
Genomic Locations for CREB3L3 Gene
Genomic Locations for CREB3L3 Gene
- chr19:4,153,601-4,173,054
- (GRCh38/hg38)
- Size:
- 19,454 bases
- Orientation:
- Plus strand
- chr19:4,153,598-4,173,051
- (GRCh37/hg19)
Genomic View for CREB3L3 Gene
Genes around CREB3L3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.3 by Ensembl
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
CREB3L3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CREB3L3 Gene
Proteins for CREB3L3 Gene
-
Protein details for CREB3L3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q68CJ9-CR3L3_HUMAN
- Recommended name:
- Cyclic AMP-responsive element-binding protein 3-like protein 3
- Protein Accession:
- Q68CJ9
- B2R7S6
- B7ZL69
- M0QYW7
- Q6ZMC5
- Q96TB9
Protein attributes for CREB3L3 Gene
- Size:
- 461 amino acids
- Molecular mass:
- 49077 Da
- Quaternary structure:
-
- Binds DNA as a dimer (By similarity). Probably homodimerizes. Probably forms a heterodimer with ATF6. Interacts with ATF6.
- SequenceCaution:
-
- Sequence=BAD18804.1; Type=Frameshift; Positions=445; Evidence={ECO:0000305}; Sequence=BAD18804.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
Protein Expression for CREB3L3 Gene
Post-translational modifications for CREB3L3 Gene
- Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2).
- N- and O-glycosylated. N-glycosylation is required for optimal proteolytic activation. O-glycosylated with core 1 or possibly core 8 glycans.
- Glycosylation at posLast=379379, Asn410, Asn413, Asn420, and Asn427
Other Protein References for CREB3L3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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Assay Products
No data available for DME Specific Peptides for CREB3L3 Gene
Domains & Families for CREB3L3 Gene
Gene Families for CREB3L3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
- Transcription factors
Protein Domains for CREB3L3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CREB3L3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q68CJ9- Family:
-
- Belongs to the bZIP family. ATF subfamily.
Function for CREB3L3 Gene
Molecular function for CREB3L3 Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 16469704 |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11353085 |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IMP | 11353085 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
Phenotypes for CREB3L3 Gene
- MGI mutant phenotypes for CREB3L3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CREB3L3:
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- Mammalian expression: PiggyBac
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CREB3L3 Gene
Localization for CREB3L3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CREB3L3 Gene
- Endoplasmic reticulum membrane; Single-pass type II membrane protein.
- Processed cyclic AMP-responsive element-binding protein 3-like protein 3: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 4 |
| golgi apparatus | 4 |
| extracellular | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005634 | nucleus | IDA | 16469704 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005783 | endoplasmic reticulum | IDA | 16236796 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CREB3L3 Gene
Pathways & Interactions for CREB3L3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Aldosterone synthesis and secretion | ||
| 2 | Lipoprotein metabolism | ||
| 3 | Amphetamine addiction | ||
| 4 | Circadian entrainment | ||
| 5 | Relaxin signaling pathway | ||
Pathways by source for CREB3L3 Gene
1 BioSystems pathway for CREB3L3 Gene
5 Reactome pathways for CREB3L3 Gene
27 KEGG pathways for CREB3L3 Gene
Interacting Proteins for CREB3L3 Gene
Selected Interacting proteins:
ENSP00000078445
Q68CJ9-CR3L3_HUMAN
for CREB3L3 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002675 | positive regulation of acute inflammatory response | NAS | 16469704 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | IEA | -- |
| GO:0006986 | response to unfolded protein | IEA | -- |
No data available for SIGNOR curated interactions for CREB3L3 Gene
Drugs & Compounds for CREB3L3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cyclic amp | Experimental | Pharma | 0 |
Transcripts for CREB3L3 Gene
mRNA/cDNA for CREB3L3 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CREB3L3 Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CREB3L3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | - | - | - |
Expression for CREB3L3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for CREB3L3 Gene
This gene is overexpressed in Liver (x47.5) and Small Intestine - Terminal Ileum (x4.0).
This gene is overexpressed in Peripheral blood mononuclear cells (60.1) and NK cells (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CREB3L3 Gene
NURSA nuclear receptor signaling pathways regulating expression of CREB3L3 Gene:
CREB3L3SOURCE GeneReport for Unigene cluster for CREB3L3 Gene:
Hs.247744mRNA Expression by UniProt/SwissProt for CREB3L3 Gene:
Q68CJ9-CR3L3_HUMAN
Tissue specificity:
Exclusively expressed in liver. Underexpressed in hepatocellular carcinoma tissues.
Evidence on tissue expression from TISSUES for CREB3L3 Gene
- Liver(4.7)
- Intestine(4.3)
- Nervous system(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CREB3L3 Gene
Germ Layers:
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
Regions:
Head and neck:
- ear
Thorax:
- heart
Abdomen:
- duodenum
- intestine
- liver
- pancreas
- small intestine
General:
- blood vessel
Primer Products
-
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Orthologs for CREB3L3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CREB3L3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CREB3L3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CREB3L3 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Creb3l3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Creb3l3 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CREB3L3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CREB3L3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CREB3L3 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101733496 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | creb3l3a 33 34 |
|
||
| CREB3L3 (2 of 2) 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | let-607 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CREB3L3 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)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- 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)
Paralogs for CREB3L3 Gene
(1) SIMAP similar genes for CREB3L3 Gene using alignment to 4 proteins:
Variants for CREB3L3 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000061108 | -- | 4,172,722(+) | C/T | 3_prime_UTR_variant | |
| rs1000233955 | -- | 4,153,637(+) | G/A | 5_prime_UTR_variant | |
| rs1000310191 | -- | 4,156,802(+) | C/G | intron_variant | |
| rs1000394031 | -- | 4,170,978(+) | C/G | intron_variant | |
| rs1000468498 | -- | 4,161,826(+) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv962993 | CNV | duplication | 23825009 |
| nsv833716 | CNV | loss | 17160897 |
| nsv1109160 | CNV | deletion | 24896259 |
| esv3643489 | CNV | loss | 21293372 |
| esv3643488 | CNV | gain | 21293372 |
| esv2717979 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CREB3L3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREB3L3 Gene
Disorders for CREB3L3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperlipoproteinemia, type v |
|
|
| hepatocellular carcinoma |
|
|
Search CREB3L3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CREB3L3
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CREB3L3 Gene
Publications for CREB3L3 Gene
- CREB-H: a novel mammalian transcription factor belonging to the CREB/ATF family and functioning via the box-B element with a liver-specific expression. (PMID: 11353085) Omori Y … Sugano S (Nucleic acids research 2001) 2 3 4 58
- Endoplasmic reticulum stress activates cleavage of CREBH to induce a systemic inflammatory response. (PMID: 16469704) Zhang K … Kaufman RJ (Cell 2006) 3 4 58
- Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 58
- β-TrCP-mediated ubiquitination and degradation of liver-enriched transcription factor CREB-H. (PMID: 27029215) Cheng Y … Jin DY (Scientific reports 2016) 3 58
- Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia. (PMID: 26427795) Cefalù AB … Averna MR (Arteriosclerosis, thrombosis, and vascular biology 2015) 3 58
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- Santa Cruz Biotechnology (SCBT) CRISPR for CREB3L3
- Horizon Cell Lines for CREB3L3
- genomics-online: cdna clones - Search results for 101 available CREB3L3 gene related products
- Overview of 101 available CREB3L3 gene related products
- orf clones - Search results for 101 available CREB3L3 gene related products
- Overview of 101 available CREB3L3 gene related products
- genomics-online: gRNA clones - Search results for 101 available CREB3L3 gene related products
- Overview of 101 available CREB3L3 gene related products
- genomics-online: primer clones - Search results for 101 available CREB3L3 gene related products
- Overview of 101 available CREB3L3 gene related products
- genomics-online: shRNA clones - Search results for 101 available CREB3L3 gene related products
- Overview of 101 available CREB3L3 gene related products
Sources for CREB3L3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew