Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90993
Gene name Gene Name - the full gene name approved by the HGNC.
CAMP responsive element binding protein 3 like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CREB3L1
Synonyms (NCBI Gene) Gene synonyms aliases
C16DELp11.2, DEL16p11.2, OASIS, OI16
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OI16
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez 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. Ther
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs779809838 C>A,T Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1555222973 AAG>- Pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT440882 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440882 hsa-miR-218-5p HITS-CLIP 23212916
MIRT908634 hsa-miR-1231 CLIP-seq
MIRT908635 hsa-miR-1253 CLIP-seq
MIRT908636 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IDA 27121396
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616215 18856 ENSG00000157613
Protein
UniProt ID Q96BA8
Protein name Cyclic AMP-responsive element-binding protein 3-like protein 1 (cAMP-responsive element-binding protein 3-like protein 1) (Old astrocyte specifically-induced substance) (OASIS) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like
Protein function [Cyclic AMP-responsive element-binding protein 3-like protein 1]: Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00170 bZIP_1 288 351 bZIP transcription factor Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in several tissues, with highest levels in pancreas and prostate. Expressed at relatively lower levels in brain. {ECO:0000269|PubMed:12054625}.
Sequence
MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFD
DPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALG
HKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQL
PVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKN
KISAQESRRKKKEYVECLEKKVETFTSENNELWKKVETLENANRTLLQQLQ
KLQTLVTNK
ISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS
Sequence length 519
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Osteogenesis Imperfecta osteogenesis imperfecta type 3 GenCC
Hypertension Hypertension GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adjustment Disorders Associate 33280191
Anodontia Associate 32234057
Breast Neoplasms Associate 25625847, 26810754, 29057869, 29530003
Calcinosis Cutis Associate 25353281
Carcinoma Squamous Cell Associate 28186972
Contracture Associate 31207160
Deafness oligodontia syndrome Associate 32234057
Endometrial Stromal Tumors Associate 15640831, 25231134, 29274042
Fibrosarcoma Associate 25353281, 29274042
Fibrosis Associate 36435939