1. Gene
  2. CREB3L1 - cAMP responsive element binding protein 3 like 1 Gene

CREB3L1 - cAMP responsive element binding protein 3 like 1 Gene

Homo sapiens

Also known as OI16; OASIS

Gene ID: 90993 | Gene type: protein coding

About CREB3L1

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:46,277,662-46,321,409 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues, 9 paralogues and is associated with 72 phenotypes. Broad expression in stomach (RPKM 29.2), colon (RPKM 23.7) and 16 other tissues.

Summary

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]

CREB3L1 Products(1)

mRNA Protein Name
NM_052854.4 NP_443086.1 cyclic AMP-responsive element-binding protein 3-like protein 1

CREB3L1 Protein Structure

bZIP_1

bZIP_1: bZIP transcription factor (288 - 350)

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  • 519 a.a.
Protein Preferred Names Protein Names

cyclic AMP-responsive element-binding protein 3-like protein 1

BBF-2 homolog

Recombinant CREB3L1 Proteins

Cat. No. Product Name Accession Purity
HY-P76284 CREB3L1 Protein, Human (HEK293, His) Q96BA8 (E396-S519) ≥95%

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Xvi

Osteogenesis Imperfecta Type 16

OI16

Oi, Type Xvi

Osteogenesis Imperfecta Type Xvi

Chromosome 11p11.2 Deletion Syndrome 91.3-Kb

Osteogenesis Imperfecta 16

Chromosome 11p11.2 Deletion Syndrome, 91.3-Kb

Myxofibrosarcoma

Fibromyxosarcoma

Fibromyxoid Sarcoma

Myxoid Malignant Fibrous Histiocytoma

Dermatofibrosarcoma Protuberans, Myxoid

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Kidney Fibrosarcoma

Fibrosarcoma Of The Kidney

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Small Cell Osteogenic Sarcoma

Small Cell Osteosarcoma

Round Cell Osteosarcoma

Osteosarcoma Small Cell

Osteogenesis Imperfecta, Type Xix

OI19

Osteogenesis Imperfecta Type 19

Osteogenesis Imperfecta Type Xix

Osteogenesis Imperfecta, Type 19

Osteogenesis Imperfecta 19

Keratosis Follicularis Spinulosa Decalvans

Kfsd

Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Keratosis Pilaris Atrophicans

KPA

Burnett Schwartz Berberian Syndrome

Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Sarcomatosis
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

PLSD-T

PLSDT

Platyspondylic Dysplasia, Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type

Thanatophoric Dysplasia, Torrance Variant

Platyspondylic Skeletal Dysplasia, Torrance Type

Torrance Type Platyspondylic Dysplasia

Platyspondylic Dysplasia, Torrance-Luton Type

Platyspondylic Lethal Skeletal Dysplasia Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type

Thanatophoric Dysplasia Torrance Variant

Platyspondylic Chondrodysplasia, Torrance-Luton Type

Plsd-Tl

Dysplasia, Skeletal, Platyspondylic, Torrance Type

Conventional Osteosarcoma

Intracortical Osteosarcoma

Conventional Central Osteosarcoma

Intracortical Osteogenic Sarcoma

Medullary Osteosarcoma

Spindle Cell Liposarcoma
Pseudosarcomatous Fibromatosis

Nodular Fasciitis

Pseudosarcomatous Fasciitis

Fasciitis - Nodular

Fasciitis Nodular

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Adult Fibrosarcoma
Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14

OI14

Osteogenesis Imperfecta Type Xiv

Oi, Type Xiv

Osteogenesis Imperfecta 14

Oi Type Xiv

Oi-Xiv

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Spondyloepiphyseal Dysplasia Congenita

SEDC

Sed Congenita

Spondyloepiphyseal Dysplasia, Congenital Type

Late Spondyloepiphyseal Dysplasia

Sed, Congenital Type

Congenital Spondyloepiphyseal Dysplasia

Spranger-Wiedemann Disease

Spondyloepiphyseal Dysplasia Congenital Type

Dysplasia, Spondyloepiphyseal, Congenita

Spondyloepiphyseal Dysplasia, Congenita

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma

Liposarcoma, Myxoid

Mrcls

Myxoliposarcoma

MXLIPO

Liposarcoma Myxoid

Liposarcoma

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CREB3L1 MGD MGI:1347062
Bos taurus CREB3L1 VGNC VGNC:27694
Felis catus CREB3L1 VGNC VGNC:61166
Rattus norvegicus CREB3L1 RGD RGD:1359613
Canis familiaris CREB3L1 VGNC VGNC:39597
Macaca mulatta CREB3L1 VGNC VGNC:71438
Others CREB3L1 NCBI