| Type | Description |
|---|---|
| Definition | cAMP responsive element binding protein 3 like 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-04 12:53:00 | Study reports a novel homozygous CREB3L1 mutation in a large Indonesian family with osteogenesis imperfecta (OI); the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene. | 31207160 |
| 2020-02-08 11:05:00 | Here, we presenta Turkish family, in which molecular analysis of the proband revealeda previously unreported homozygous missense variant(c.911C>T,p.(Ala304Val))of the CREB3L1 | 30657919 |
| 2019-03-09 10:22:00 | There was a relationship between the expression levels of both proteins and survival time. CREB3L1 and PTN expression levels serve as biomarkers with utility in grading gliomas. Absence of CREB3L1 and presence of PTN in brain glioma cells correlate with survival time of the glioma patients. | 29531016 |
| 2018-10-27 10:45:00 | These results suggest that CREB3L1 expression level may be used as a biomarker to identify TNBC patients who are more likely to benefit from doxorubicin-based chemotherapy. | 30103710 |
| 2018-09-29 10:31:00 | ConclusionThis report confirms that CREB3L1 is an OI-related gene and suggests the pathogenic mechanism of CREB3L1-associated OI involves the altered regulation of proteins involved in cellular secretion. | 28817112 |
| Type | IDs |
|---|---|
| Synonymous | OASIS, OI16 |
| Gene |
UniProtKB-ID:
CR3L1_HUMAN,
B2RA75_HUMAN
UniprotKB:
Q96BA8,
B2RA75
UniParc:
UPI000004ABFF,
UPI0001526341,
UPI00017506AA
EMBL:
BC015781,
AK314072,
AK075538,
BC014097,
AB063321
Ensembl:
ENSG00000157613
KO:
hsa:90993
|
| Nucleutide sequences |
EMBL-CDS:
AAH14097.1,
BAC01278.1,
BAC11681.1,
AAH15781.1,
BAG36772.1
Gene_ORFName:
PSEC0238
Ensembl_TRS:
ENST00000621158
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000481956
RefSeq:
NP_443086.1,
XP_006718443.1
|
| Others |
UniRef100:
UniRef100_B2RA75,
UniRef100_Q96BA8
UniRef90:
UniRef90_Q96BA8
UniRef50:
UniRef50_Q96BA8
UniGene:
Hs.405961
CCDS:
CCDS53620.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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