Human Gene PREB (ENST00000260643.7) from GENCODE V44
  Description: Homo sapiens prolactin regulatory element binding (PREB), transcript variant 6, non-coding RNA. (from RefSeq NR_138479)
RefSeq Summary (NM_013388): 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].
Gencode Transcript: ENST00000260643.7
Gencode Gene: ENSG00000138073.14
Transcript (Including UTRs)
   Position: hg38 chr2:27,130,756-27,134,636 Size: 3,881 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr2:27,131,414-27,134,421 Size: 3,008 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:27,130,756-27,134,636)mRNA (may differ from genome)Protein (417 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PREB_HUMAN
DESCRIPTION: RecName: Full=Prolactin regulatory element-binding protein; AltName: Full=Mammalian guanine nucleotide exchange factor mSec12;
FUNCTION: Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription (By similarity). Guanine nucleotide exchange factor that activates SARA2. Required for the formation of COPII transport vesicles from the ER.
SUBUNIT: Binds SARA2.
SUBCELLULAR LOCATION: Nucleus (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Contains 3 WD repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PREB
Diseases sorted by gene-association score: testicular leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.97 RPKM in Uterus
Total median expression: 1212.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.10215-0.503 Picture PostScript Text
3' UTR -231.30658-0.352 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q9HCU5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005090 Sar guanyl-nucleotide exchange factor activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0051020 GTPase binding

Biological Process:
GO:0003400 regulation of COPII vesicle coating
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0009306 protein secretion
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0032527 protein exit from endoplasmic reticulum
GO:0036498 IRE1-mediated unfolded protein response
GO:0043547 positive regulation of GTPase activity
GO:0048208 COPII vesicle coating
GO:0050790 regulation of catalytic activity

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0070971 endoplasmic reticulum exit site


-  Descriptions from all associated GenBank mRNAs
  AF203687 - Homo sapiens SEC12 (SEC12) mRNA, complete cds.
AF226684 - Homo sapiens prolactin regulatory element-binding protein (PREB) mRNA, complete cds.
BC008658 - Homo sapiens cDNA clone IMAGE:3450490, containing frame-shift errors.
BC012890 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone MGC:18264 IMAGE:4158577), complete cds.
BC036185 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone IMAGE:4831230), with apparent retained intron.
AK001976 - Homo sapiens cDNA FLJ11114 fis, clone PLACE1005951.
AK023405 - Homo sapiens cDNA FLJ13343 fis, clone OVARC1001987, highly similar to Homo sapiens prolactin regulatory element-binding protein (PREB) mRNA.
BC002765 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone MGC:3467 IMAGE:3631721), complete cds.
BC016906 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone MGC:21042 IMAGE:4427483), complete cds.
BC016472 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone MGC:17244 IMAGE:4178911), complete cds.
BC041032 - Homo sapiens prolactin regulatory element binding, mRNA (cDNA clone MGC:52403 IMAGE:4638313), complete cds.
AK023064 - Homo sapiens cDNA FLJ13002 fis, clone NT2RP3000393, highly similar to Rattus norvegicus DNA-binding protein PREB (Preb) mRNA.
AK292178 - Homo sapiens cDNA FLJ77763 complete cds, highly similar to Homo sapiens prolactin regulatory element binding (PREB), mRNA.
KJ906023 - Synthetic construct Homo sapiens clone ccsbBroadEn_15693 PREB gene, encodes complete protein.
DQ892120 - Synthetic construct clone IMAGE:100004750; FLH183209.01X; RZPDo839H06140D prolactin regulatory element binding (PREB) gene, encodes complete protein.
KJ892925 - Synthetic construct Homo sapiens clone ccsbBroadEn_02319 PREB gene, encodes complete protein.
AB463192 - Synthetic construct DNA, clone: pF1KB5408, Homo sapiens PREB gene for prolactin regulatory element binding protein, without stop codon, in Flexi system.
JD170019 - Sequence 151043 from Patent EP1572962.
JD225097 - Sequence 206121 from Patent EP1572962.
JD087614 - Sequence 68638 from Patent EP1572962.
JD377332 - Sequence 358356 from Patent EP1572962.
JD436896 - Sequence 417920 from Patent EP1572962.
JD385414 - Sequence 366438 from Patent EP1572962.
JD071484 - Sequence 52508 from Patent EP1572962.
JD150439 - Sequence 131463 from Patent EP1572962.
JD051935 - Sequence 32959 from Patent EP1572962.
JD083947 - Sequence 64971 from Patent EP1572962.
JD427774 - Sequence 408798 from Patent EP1572962.
JD257252 - Sequence 238276 from Patent EP1572962.
JD477409 - Sequence 458433 from Patent EP1572962.
JD255650 - Sequence 236674 from Patent EP1572962.
JD235640 - Sequence 216664 from Patent EP1572962.
JD166801 - Sequence 147825 from Patent EP1572962.
JD024538 - Sequence 5562 from Patent EP1572962.
JD464985 - Sequence 446009 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HCU5 (Reactome details) participates in the following event(s):

R-HSA-5694433 CTAGE5 binds PREB
R-HSA-5694436 CTAGE5 and MIA3 dissociate from procollagen VII vesicle
R-HSA-5694435 CTAGE5 and MIA3 load procollagen VII into COPII vesicles
R-HSA-203977 SAR1 Activation And Membrane Binding
R-HSA-5694530 Cargo concentration in the ER
R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000260643.1, ENST00000260643.2, ENST00000260643.3, ENST00000260643.4, ENST00000260643.5, ENST00000260643.6, NR_138479, PREB_HUMAN, Q53SZ8, Q9HCU5, Q9UH94, SEC12, uc002rix.1, uc002rix.2, uc002rix.3, uc002rix.4
UCSC ID: ENST00000260643.7
RefSeq Accession: NM_013388
Protein: Q9HCU5 (aka PREB_HUMAN)
CCDS: CCDS1738.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.