• Gene id: 10113

Gene Summary

• Gene Symbol: PREB   Gene   UCSC   Ensembl
• Aliases: SEC12
• Gene name: prolactin regulatory element binding
• Alternate names: prolactin regulatory element-binding protein, mammalian guanine nucleotide exchange factor mSec12,
• Gene location: 2p23.3 (27134674: 27130755)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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 patient
• OMIM: 114019

Protein Summary

• Protein general information: Q9HCU5  
  • Name: Prolactin regulatory element binding protein (Mammalian guanine nucleotide exchange factor mSec12)
  • Length: 417  
  • Mass: 45468
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGRRRAPELYRAPFPLYALQVDPSTGLLIAAGGGGAAKTGIKNGVHFLQLELINGRLSASLLHSHDTETRATMNL
  ALAGDILAAGQDAHCQLLRFQAHQQQGNKAEKAGSKEQGPRQRKGAAPAEKKCGAETQHEGLELRVENLQAVQTD
  FSSDPLQKVVCFNHDNTLLATGGTDGYVRVWKVPSLEKVLEFKAHEGEIEDLALGPDGKLVTVGRDLKASVWQKD
  QLVTQLHWQENGPTFSSTPYRYQACRFGQVPDQPAGLRLFTVQIPHKRLRQPPPCYLTAWDGSNFLPLRTKSCGH
  EVVSCLDVSESGTFLGLGTVTGSVAIYIAFSLQCLYYVREAHGIVVTDVAFLPEKGRGPELLGSHETALFSVAVD
  SRCQLHLLPSRRSVPVWLLLLLCVGLIIVTILLLQSAFPGFL

• Structural information:
  • Interpro: IPR011047  IPR001680  IPR017986  
  • Prosite: PS50082 PS50294
  • PDB: 5TF2
  • PDBsum: 5TF2
  • STRING: ENSP00000260643
• Other Databases: GeneCards:  PREB  Malacards:  PREB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0003400	regulation of COPII vesicle coating	IBA	biological process
GO:0051020	GTPase binding	IBA	molecular function
GO:0009306	protein secretion	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005090	Sar guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component
GO:0048208	COPII vesicle coating	ISS	biological process
GO:0032527	protein exit from endoplasmic reticulum	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	ISS	biological process
GO:0005090	Sar guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0051020	GTPase binding	IEA	molecular function
GO:0005090	Sar guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq