PREB - prolactin regulatory element binding Gene

Homo sapiens

Also known as SEC12

Gene ID: 10113 | Gene type: protein coding

About PREB

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,130,756-27,134,636 (from NCBI)

This gene has 9 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in ovary (RPKM 22.2), fat (RPKM 20.3) and 25 other tissues.

Summary

This gene encodes a protein that specifically binds to a Pit1-binding element of the Prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

PREB Products(5)

mRNA	Protein	Name
NM_001330484.2	NP_001317413.1	prolactin regulatory element-binding protein isoform 2
NM_001330485.2	NP_001317414.1	prolactin regulatory element-binding protein isoform 3
NM_001330486.2	NP_001317415.1	prolactin regulatory element-binding protein isoform 4
NM_001330487.2	NP_001317416.1	prolactin regulatory element-binding protein isoform 5
NM_013388.6	NP_037520.1	prolactin regulatory element-binding protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	32358066	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25202031	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: Inferred from direct assay	32358066	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	25202031	GOA
involved in regulation of COPII vesicle coating	IDA IDA: Inferred from direct assay	32358066	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in endoplasmic reticulum exit site	IDA IDA: Inferred from direct assay	25202031	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10194769	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PREB Protein Structure

WD40

0
100
200
300
417 a.a.

Protein Preferred Names

Protein Names

prolactin regulatory element-binding protein

mammalian guanine nucleotide exchange factor mSec12

Related Diseases

Diseases

Alias

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Chylomicron Retention Disease

CMRD	Anderson Disease
Lipid Transport Defect Of Intestine	Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells
Andd	Anderson Syndrome
Crd	Andersons Disease
Malabsorption Syndrome

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116170	SN34037		/	Unkown
HY-E70016	Terminal deoxyribonucleotidyltransferase		/	Unkown
HY-RS11080	PREB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PREB	MGD	MGI:1355326
Bos taurus	PREB	VGNC	VGNC:33305
Felis catus	PREB	VGNC	VGNC:69039
Canis familiaris	PREB	VGNC	VGNC:44954
Macaca mulatta	PREB	VGNC	VGNC:103847
Rattus norvegicus	PREB	RGD	RGD:61929

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