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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]
CREB3L3 (CAMP Responsive Element Binding Protein 3 Like 3) is a Protein Coding gene. Diseases associated with CREB3L3 include Spondyloepimetaphyseal Dysplasia, Strudwick Type and Platyspondylic Lethal Skeletal Dysplasia, Torrance Type. Among its related pathways are Lipoprotein metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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.
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:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 11353085 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IDA | 16469704 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005783 | endoplasmic reticulum | IDA | 16236796 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aldosterone synthesis and secretion |
.41
|
.41
|
2 | Relaxin signaling pathway | ||
3 | Lipoprotein metabolism | ||
4 | cGMP-PKG signaling pathway | ||
5 | Amphetamine addiction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002675 | positive regulation of acute inflammatory response | NAS | 16469704 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006986 | response to unfolded protein | IEA | -- |
GO:0030968 | endoplasmic reticulum unfolded protein response | TAS | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP | 11353085 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CREB3L3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CREB3L3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CREB3L3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Creb3l3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Creb3l3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CREB3L3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CREB3L3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CREB3L3 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101733496 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | creb3l3a 30 31 |
|
OneToMany | |
CREB3L3 (2 of 2) 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | let-607 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714753 | Benign: not provided | 4,171,828(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
731136 | Benign: not provided | 4,171,930(+) | A/G | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
845893 | Uncertain Significance: not provided | 4,157,190(+) | C/T | MISSENSE_VARIANT | |
852932 | Likely Pathogenic: not provided | 4,164,502(+) | G/A | SPLICE_ACCEPTOR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2717979 | CNV | deletion | 23290073 |
esv3643488 | CNV | gain | 21293372 |
esv3643489 | CNV | loss | 21293372 |
nsv1109160 | CNV | deletion | 24896259 |
nsv833716 | CNV | loss | 17160897 |
nsv962993 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondyloepimetaphyseal dysplasia, strudwick type |
|
|
platyspondylic lethal skeletal dysplasia, torrance type |
|
|
hepatocellular carcinoma |
|
|
otospondylomegaepiphyseal dysplasia, autosomal recessive |
|
|