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Aliases for PREB Gene

Aliases for PREB Gene

  • Prolactin Regulatory Element Binding 2 3 5
  • Mammalian Guanine Nucleotide Exchange Factor MSec12 3 4
  • SEC12 3 4
  • Prolactin Regulatory Element-Binding Protein 3

External Ids for PREB Gene

Previous GeneCards Identifiers for PREB Gene

  • GC02M027274
  • GC02M027446
  • GC02M027311
  • GC02M027328
  • GC02M027265
  • GC02M027207
  • GC02M027353
  • GC02M027095

Summaries for PREB Gene

Entrez Gene Summary for PREB Gene

  • 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]

GeneCards Summary for PREB Gene

PREB (Prolactin Regulatory Element Binding) is a Protein Coding gene. Diseases associated with PREB include Testicular Leukemia. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for PREB Gene

  • Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitement of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER.

  • 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.

Gene Wiki entry for PREB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PREB Gene

Genomics for PREB Gene

Regulatory Elements for PREB Gene

Enhancers for PREB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027090 1.6 Ensembl ENCODE dbSUPER 10.8 +40.8 40760 6.6 HNRNPUL1 FOXA2 MLX CREB3L1 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 KHK ZNF513 CGREF1 ABHD1 ATRAID SLC5A6 CAD PRR30 TCF23 PREB
GH02G027320 1.8 FANTOM5 ENCODE dbSUPER 9.3 -188.0 -188003 4.2 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 ATRAID ZNF512 ENSG00000235267 DNAJC5G SLC30A3 SNX17 ZNF513 SLC5A6 EMILIN1 KHK
GH02G027169 1.3 Ensembl ENCODE 11.7 -36.6 -36594 2.9 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 ZNF263 SP5 ATRAID GTF3C2 TCF23 PRR30 PREB SLC5A6 ABHD1 CAD SLC30A3 DNAJC5G
GH02G027085 1.4 ENCODE dbSUPER 10.8 +47.2 47189 4.8 HDGF MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
GH02G026911 1.3 ENCODE dbSUPER 9.1 +221.4 221365 3.0 HDGF ATF1 ARNT SIN3A ARID4B DMAP1 ZNF48 YY1 ZNF766 ZNF143 KHK DPYSL5 MAPRE3 PREB PIR42524
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PREB on UCSC Golden Path with GeneCards custom track

Promoters for PREB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114383 175 1401 CREB3L1 MLX AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for PREB Gene

Chromosome:
2
Start:
27,130,756 bp from pter
End:
27,134,675 bp from pter
Size:
3,920 bases
Orientation:
Minus strand

Genomic View for PREB Gene

Genes around PREB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PREB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PREB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PREB Gene

Proteins for PREB Gene

  • Protein details for PREB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCU5-PREB_HUMAN
    Recommended name:
    Prolactin regulatory element-binding protein
    Protein Accession:
    Q9HCU5
    Secondary Accessions:
    • Q53SZ8
    • Q9UH94

    Protein attributes for PREB Gene

    Size:
    417 amino acids
    Molecular mass:
    45468 Da
    Quaternary structure:
    • Interacts with SAR1B (GDP-bound form) (By similarity). Interacts with CTAGE5; recruits PREB to endoplasmic reticulum exit sites (PubMed:25202031, PubMed:27170179).

    Three dimensional structures from OCA and Proteopedia for PREB Gene

neXtProt entry for PREB Gene

Post-translational modifications for PREB Gene

  • Ubiquitination at Lys38, posLast=188188, posLast=209209, Lys224, and posLast=272272
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PREB Gene

Domains & Families for PREB Gene

Gene Families for PREB Gene

Suggested Antigen Peptide Sequences for PREB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PREB: view

No data available for UniProtKB/Swiss-Prot for PREB Gene

Function for PREB Gene

Molecular function for PREB Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitement of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PREB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005090 Sar guanyl-nucleotide exchange factor activity IEA,ISS --
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 25202031
genes like me logo Genes that share ontologies with PREB: view
genes like me logo Genes that share phenotypes with PREB: view

Animal Model Products

CRISPR Products

miRNA for PREB Gene

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PREB Gene

Localization for PREB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PREB Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus. Note=Concentrates at endoplasmic reticulum exit sites. {ECO:0000269 PubMed:25202031}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PREB gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 4
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PREB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IEA,IDA 10194769
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with PREB: view

Pathways & Interactions for PREB Gene

genes like me logo Genes that share pathways with PREB: view

Gene Ontology (GO) - Biological Process for PREB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003400 regulation of COPII vesicle coating IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
genes like me logo Genes that share ontologies with PREB: view

No data available for SIGNOR curated interactions for PREB Gene

Drugs & Compounds for PREB Gene

(3) Drugs for PREB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PREB: view

Transcripts for PREB Gene

Unigene Clusters for PREB Gene

Prolactin regulatory element binding:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PREB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a ·
SP1: - - - - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6: - - - - - - - - -
SP7:
SP8: - -
SP9:
SP10: -
SP11: -
SP12: - - - - - -
SP13: - -

ExUns: 11b ^ 12a · 12b · 12c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for PREB Gene

GeneLoc Exon Structure for
PREB
ECgene alternative splicing isoforms for
PREB

Expression for PREB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PREB Gene

Protein differential expression in normal tissues from HIPED for PREB Gene

This gene is overexpressed in Nasal epithelium (21.3) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PREB Gene



Protein tissue co-expression partners for PREB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PREB Gene:

PREB

SOURCE GeneReport for Unigene cluster for PREB Gene:

Hs.279784

mRNA Expression by UniProt/SwissProt for PREB Gene:

Q9HCU5-PREB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PREB Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Liver(4.4)
  • Bone marrow(2.9)
  • Blood(2.7)
  • Skin(2.7)
  • Intestine(2.2)
  • Muscle(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with PREB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PREB Gene

Orthologs for PREB Gene

This gene was present in the common ancestor of animals.

Orthologs for PREB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PREB 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia PREB 34 35
  • 91.53 (n)
cow
(Bos Taurus)
Mammalia PREB 34 35
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia Preb 34
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Preb 34 16 35
  • 87.05 (n)
oppossum
(Monodelphis domestica)
Mammalia PREB 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PREB 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PREB 34 35
  • 70.4 (n)
lizard
(Anolis carolinensis)
Reptilia PREB 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia preb 34
  • 64.99 (n)
Str.2368 34
zebrafish
(Danio rerio)
Actinopterygii preb 34 35
  • 60.11 (n)
sbcb385 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9088 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009942 34
  • 48.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9175 36 34 35
  • 48.05 (n)
worm
(Caenorhabditis elegans)
Secernentea sec-12 34 35
  • 41.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5504 35
  • 40 (a)
OneToOne
Species where no ortholog for PREB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PREB Gene

ENSEMBL:
Gene Tree for PREB (if available)
TreeFam:
Gene Tree for PREB (if available)

Paralogs for PREB Gene

No data available for Paralogs for PREB Gene

Variants for PREB Gene

Sequence variations from dbSNP and Humsavar for PREB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000375652 -- 27,136,241(+) TGCAC(C/T)CTCCA upstream-variant-2KB
rs1000427670 -- 27,130,334(+) GCAGC(A/T)AGCCC intron-variant, downstream-variant-500B, reference, synonymous-codon, missense, utr-variant-3-prime
rs1000700536 -- 27,134,783(+) CACCG(A/T)CTTCG upstream-variant-2KB
rs1000767687 -- 27,135,956(+) TAACC(G/T)AAGGT upstream-variant-2KB
rs1001454647 -- 27,131,710(+) TGTCC(A/C)CAGCC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PREB Gene

Variant ID Type Subtype PubMed ID
dgv6744n54 CNV loss 21841781
nsv817673 CNV gain 17921354
nsv833603 CNV loss 17160897

Variation tolerance for PREB Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PREB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PREB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PREB Gene

Disorders for PREB Gene

MalaCards: The human disease database

(1) MalaCards diseases for PREB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
testicular leukemia
- elite association - COSMIC cancer census association via MalaCards
Search PREB in MalaCards View complete list of genes associated with diseases

Relevant External Links for PREB

Genetic Association Database (GAD)
PREB
Human Genome Epidemiology (HuGE) Navigator
PREB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PREB
genes like me logo Genes that share disorders with PREB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PREB Gene

Publications for PREB Gene

  1. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. (PMID: 12735795) Edgar A.J. (BMC Genomics 2003) 2 3 4 22 64
  2. Expression cloning and characterization of PREB (prolactin regulatory element binding), a novel WD motif DNA-binding protein with a capacity to regulate prolactin promoter activity. (PMID: 10194769) Fliss M.S. … Bancroft C. (Mol. Endocrinol. 1999) 2 3 22 64
  3. Dual function of cTAGE5 in collagen export from the endoplasmic reticulum. (PMID: 27170179) Tanabe T. … Katada T. (Mol. Biol. Cell 2016) 3 4 64
  4. Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export. (PMID: 25202031) Saito K. … Katada T. (J. Cell Biol. 2014) 3 4 64
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64

Products for PREB Gene

Sources for PREB Gene

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